Item Type | Name |
Academic Article
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Role of the 5' upstream sequence and tandem promoters in regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon.
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Academic Article
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Cloning, sequencing, and species relatedness of the Escherichia coli cca gene encoding the enzyme tRNA nucleotidyltransferase.
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Academic Article
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Possible new genes as revealed by molecular analysis of a 5-kb Escherichia coli chromosomal region 5' to the rpsU-dnaG-rpoD macromolecular-synthesis operon.
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Academic Article
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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
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Academic Article
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Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.
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Academic Article
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Settling the myelin protein zero question in CMT1B.
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Academic Article
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Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
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Academic Article
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Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.
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Academic Article
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Molecular genetics of Charcot-Marie-Tooth neuropathy.
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Academic Article
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A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
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Academic Article
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Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
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Academic Article
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Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.
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Academic Article
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Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.
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Academic Article
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Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17.
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Academic Article
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Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.
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Academic Article
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Chromosomal duplications in bacteria, fruit flies, and humans.
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Academic Article
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Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
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Academic Article
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A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
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Academic Article
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Charcot-Marie-Tooth disease and related inherited neuropathies.
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Academic Article
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Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
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Academic Article
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Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
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Academic Article
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The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.
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Academic Article
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Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
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Academic Article
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Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
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Academic Article
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Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
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Academic Article
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Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.
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Academic Article
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Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
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Academic Article
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Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR.
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Academic Article
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Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
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Academic Article
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Detection of tandem duplications and implications for linkage analysis.
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Academic Article
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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
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Academic Article
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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
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Academic Article
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DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
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Academic Article
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A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
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Academic Article
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Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.
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Academic Article
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Localization of the human nuclear receptor corepressor (hN-CoR) gene between the CMT1A and the SMS critical regions of chromosome 17p11.2.
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Academic Article
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Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.
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Academic Article
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Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
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Academic Article
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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
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Academic Article
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Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.
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Academic Article
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Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
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Academic Article
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Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
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Academic Article
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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
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Academic Article
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Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers.
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Academic Article
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Ophthalmic manifestations of Smith-Magenis syndrome.
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Academic Article
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Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
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Academic Article
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Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.
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Academic Article
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The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.
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Academic Article
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Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.
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Academic Article
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A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.
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Academic Article
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Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
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Academic Article
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Genome architecture, rearrangements and genomic disorders.
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Academic Article
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Localization of mariner DNA transposons in the human genome by PRINS.
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Academic Article
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Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
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Academic Article
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Missense mutations in the 3' end of the Escherichia coli dnaG gene do not abolish primase activity but do confer the chromosome-segregation-defective (par) phenotype.
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Academic Article
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Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.
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Academic Article
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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
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Academic Article
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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
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Academic Article
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Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.
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Academic Article
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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.
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Academic Article
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Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
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Academic Article
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Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
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Academic Article
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Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites.
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Academic Article
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
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Academic Article
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Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.
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Academic Article
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Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.
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Academic Article
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Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3.
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Academic Article
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Two MspI RFLPs at the D17S258 locus.
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Academic Article
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Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
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Academic Article
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Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
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Academic Article
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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
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Academic Article
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
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Academic Article
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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome.
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Academic Article
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Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
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Academic Article
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Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)
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Academic Article
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Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.
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Academic Article
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Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.
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Academic Article
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Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
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Academic Article
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New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.
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Academic Article
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The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.
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Academic Article
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Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
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Academic Article
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The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.
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Academic Article
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Molecular characterization of a patient with del(1)(q23-q25).
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Academic Article
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Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.
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Academic Article
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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
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Academic Article
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Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.
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Academic Article
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Three polymorphisms at the D17S29 locus.
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Academic Article
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The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats.
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Academic Article
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Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
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Academic Article
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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
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Academic Article
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AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
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Academic Article
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2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
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Academic Article
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The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis.
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Academic Article
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Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
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Academic Article
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Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.
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Academic Article
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Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.
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Academic Article
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Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.
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Academic Article
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Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
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Academic Article
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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
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Academic Article
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COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast.
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Academic Article
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Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
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Academic Article
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
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Academic Article
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Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
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Academic Article
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Increased LIS1 expression affects human and mouse brain development.
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Academic Article
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Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
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Academic Article
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Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.
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Academic Article
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A girl with duplication 17p10-p12 associated with a dicentric chromosome.
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Academic Article
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Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
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Academic Article
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Complex human chromosomal and genomic rearrangements.
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Academic Article
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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.
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Academic Article
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
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Academic Article
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Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.
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Academic Article
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Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
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Academic Article
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Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications.
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Academic Article
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Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.
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Academic Article
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Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype.
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Academic Article
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Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
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Academic Article
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Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
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Academic Article
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Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.
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Academic Article
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Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.
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Academic Article
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Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
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Academic Article
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Exome capture sequencing identifies a novel mutation in BBS4.
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Academic Article
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Cardiovascular findings in duplication 17p11.2 syndrome.
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Academic Article
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Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
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Academic Article
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Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis.
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Academic Article
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Genome structural variation and sporadic disease traits.
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Academic Article
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Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
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Academic Article
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Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
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Academic Article
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Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
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Academic Article
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Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.
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Academic Article
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Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
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Academic Article
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Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
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Academic Article
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Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].
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Academic Article
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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.
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Academic Article
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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.
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Academic Article
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Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike.
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Academic Article
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Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
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Academic Article
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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
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Academic Article
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Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
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Academic Article
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Population bottlenecks as a potential major shaping force of human genome architecture.
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Academic Article
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
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Academic Article
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The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients.
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Academic Article
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Copy number variation at the breakpoint region of isochromosome 17q.
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Academic Article
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Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.
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Academic Article
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Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
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Academic Article
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A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
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Academic Article
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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
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Academic Article
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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
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Academic Article
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Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
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Academic Article
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Genomic and clinical characteristics of microduplications in chromosome 17.
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Academic Article
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Detection of clinically relevant exonic copy-number changes by array CGH.
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Academic Article
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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
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Academic Article
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Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.
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Academic Article
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Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
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Academic Article
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High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
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Academic Article
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
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Academic Article
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Structural variation of the human genome: mechanisms, assays, and role in male infertility.
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Academic Article
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Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
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Academic Article
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Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
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Academic Article
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The phenotype of recurrent 10q22q23 deletions and duplications.
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Academic Article
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
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Academic Article
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Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement.
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Academic Article
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Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.
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Academic Article
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Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
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Academic Article
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Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.
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Academic Article
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Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
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Academic Article
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Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
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Academic Article
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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
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Academic Article
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Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.
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Academic Article
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
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Academic Article
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Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
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Academic Article
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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
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Academic Article
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De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.
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Academic Article
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Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition.
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Academic Article
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Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
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Academic Article
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Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
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Academic Article
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A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.
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Academic Article
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A clinical and molecular study of mosaicism for trisomy 17.
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Academic Article
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Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient.
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Academic Article
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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
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Academic Article
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DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies.
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Academic Article
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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
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Academic Article
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Charcot-Marie-Tooth disease: lessons in genetic mechanisms.
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Academic Article
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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
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Academic Article
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Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.
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Academic Article
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A novel locus for Leber congenital amaurosis on chromosome 14q24.
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Academic Article
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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
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Academic Article
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Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
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Academic Article
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Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
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Academic Article
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Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.
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Academic Article
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An evaluation of the draft human genome sequence.
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Academic Article
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Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.
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Academic Article
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Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
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Academic Article
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Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
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Academic Article
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Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
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Academic Article
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Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).
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Academic Article
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Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.
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Academic Article
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Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.
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Academic Article
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The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3.
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Academic Article
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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
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Academic Article
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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
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Academic Article
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Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
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Academic Article
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Serial segmental duplications during primate evolution result in complex human genome architecture.
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Academic Article
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Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.
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Academic Article
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
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Academic Article
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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
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Academic Article
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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
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Academic Article
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Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2).
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Academic Article
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Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
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Academic Article
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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
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Academic Article
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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
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Academic Article
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Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.
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Academic Article
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Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
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Academic Article
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
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Academic Article
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Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
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Academic Article
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Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning.
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Academic Article
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Completing the map of human genetic variation.
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Academic Article
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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
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Academic Article
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Genomic rearrangements and sporadic disease.
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Academic Article
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
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Academic Article
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Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
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Academic Article
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Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
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Academic Article
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CNV and nervous system diseases--what's new?
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Academic Article
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
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Academic Article
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Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
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Academic Article
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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
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Academic Article
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Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.
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Academic Article
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Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
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Academic Article
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
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Academic Article
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Olfactory copy number association with age at onset of Alzheimer disease.
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Academic Article
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Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
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Academic Article
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A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
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Academic Article
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Incidental copy-number variants identified by routine genome testing in a clinical population.
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Academic Article
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DUF1220-domain copy number implicated in human brain-size pathology and evolution.
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Academic Article
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Generation of the Sotos syndrome deletion in mice.
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Academic Article
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
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Academic Article
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Inverted low-copy repeats and genome instability--a genome-wide analysis.
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Academic Article
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Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic.
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Academic Article
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Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
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Concept
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Chromosomes, Human, Pair 18
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Concept
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Chromosomes, Human, Pair 12
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Concept
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Chromosomes, Human, Pair 15
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Concept
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X Chromosome Inactivation
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Concept
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Sex Chromosome Aberrations
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Concept
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Y Chromosome
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Concept
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Chromosomes, Human, Pair 16
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Concept
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Chromosomes, Human, Pair 17
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Concept
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Chromosome Banding
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Concept
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Chromosome Breakage
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Concept
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Chromosomes, Human, Pair 14
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Concept
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Physical Chromosome Mapping
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Concept
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Chromosomes, Human, Pair 11
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Concept
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Chromosome Fragility
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Concept
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Chromosomes, Human, Pair 1
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Concept
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Chromosomes, Human, Pair 19
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Concept
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Chromosomes, Human, Pair 3
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Concept
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Chromosomes, Human, Pair 20
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Concept
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Philadelphia Chromosome
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Concept
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Chromosomes, Human, Pair 4
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Concept
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Chromosomes, Human, Pair 5
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Concept
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Chromosome Segregation
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Concept
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Chromosomes, Human, Pair 21
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Concept
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Chromosomes, Human, Pair 8
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Concept
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Chromosome Mapping
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Concept
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Chromosome Aberrations
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Concept
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Chromosome Deletion
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Concept
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Chromosomes, Human, Pair 10
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Concept
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Chromosome Inversion
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Concept
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Chromosomes, Human, Pair 7
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Concept
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Chromosome Pairing
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Concept
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Chromosomes, Human, Pair 6
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Concept
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Chromosome Breakpoints
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Concept
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Chromosomes, Human, Pair 2
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Concept
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X Chromosome
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Concept
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Chromosomes, Human, Pair 13
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Concept
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Chromosomes, Human, Pair 9
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Concept
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Chromosome Disorders
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Concept
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Chromosomes, Human, Pair 22
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Concept
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Chromosome Fragile Sites
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Academic Article
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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
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Academic Article
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
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Academic Article
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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
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Academic Article
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Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
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Academic Article
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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
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Academic Article
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Passage number is a major contributor to genomic structural variations in mouse iPSCs.
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Academic Article
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
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Academic Article
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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
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Academic Article
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
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Academic Article
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Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.
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Academic Article
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Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
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Academic Article
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
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Academic Article
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Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
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Academic Article
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Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
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Academic Article
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TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
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Academic Article
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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
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Academic Article
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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
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Academic Article
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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
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Academic Article
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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
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Academic Article
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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
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Academic Article
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Chimeric transcripts resulting from complex duplications in chromosome Xq28.
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Academic Article
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Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
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Academic Article
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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
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Academic Article
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
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Academic Article
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Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
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Academic Article
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Two male sibs with severe micrognathia and a missense variant in MED12.
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Academic Article
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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
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Academic Article
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
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Academic Article
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Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
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Academic Article
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Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
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Academic Article
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Mechanisms for Complex Chromosomal Insertions.
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Academic Article
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Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of?Psychosis.
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Academic Article
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Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
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Academic Article
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
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Academic Article
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
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Academic Article
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22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
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Academic Article
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Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
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Academic Article
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
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Academic Article
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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.
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Academic Article
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Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.
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Academic Article
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
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Academic Article
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A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
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Grant
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Molecular basis of the craniofacial anomalies in SMS
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Grant
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Exploring the Reversibilty of the Smith-Magenis Syndrome Phenotype
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Grant
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Chromosome Rearrangements and Mental Retardation
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Academic Article
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2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.
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Academic Article
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
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Academic Article
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Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
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Academic Article
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
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Concept
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Sex Chromosome Disorders of Sex Development
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Concept
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Chromosome Duplication
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Academic Article
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
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Academic Article
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Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.
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Academic Article
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
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Academic Article
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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
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Academic Article
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Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
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Academic Article
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Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
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Academic Article
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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
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Academic Article
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Cytogenetically visible inversions are formed by multiple molecular mechanisms.
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Academic Article
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
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Academic Article
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A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
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Academic Article
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Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.
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Academic Article
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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
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