| Item Type | Name |
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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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Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).
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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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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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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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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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Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
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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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Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.
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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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Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.
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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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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.
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Academic Article
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Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
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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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Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.
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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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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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Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).
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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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Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.
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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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HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
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Academic Article
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
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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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The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.
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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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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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Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.
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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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Trisomy 14 mosaicism: a case report and review of the literature.
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Academic Article
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Congenital diaphragmatic hernia in WAGR syndrome.
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Academic Article
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Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies.
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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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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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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
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Concept
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Chromosomes, Artificial, P1 Bacteriophage
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Concept
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Chromosomes, Human, Pair 15
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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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Chromosomes, Artificial, Yeast
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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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Chromosomes, Human, Pair 7
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Concept
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Chromosomes, Artificial, Bacterial
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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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Chromosomes, Human, Pair 13
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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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Academic Article
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Stress and well-being among parents of children with Potocki-Lupski syndrome.
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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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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
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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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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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Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.
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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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Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
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Academic Article
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
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Grant
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MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME
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Academic Article
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Hypertension in Potocki-Shaffer syndrome: A case report.
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Academic Article
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Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.
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Concept
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Chromosome Duplication
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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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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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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
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Academic Article
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Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.
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