JAMES LUPSKI to Chromosomes, Human, Pair 17
This is a "connection" page, showing publications JAMES LUPSKI has written about Chromosomes, Human, Pair 17.
Connection Strength
10.609
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.543
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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat. 2016 Feb; 37(2):160-4.
Score: 0.434
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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77.
Score: 0.416
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Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic. Genet Med. 2013 Mar; 15(3):172-3.
Score: 0.348
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Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010 Jun 11; 86(6):892-903.
Score: 0.296
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Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet A. 2010 May; 152A(5):1101-10.
Score: 0.294
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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet. 2010 Mar 12; 86(3):462-70.
Score: 0.291
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Copy number variation at the breakpoint region of isochromosome 17q. Genome Res. 2008 Nov; 18(11):1724-32.
Score: 0.262
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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. Am J Hum Genet. 2007 Apr; 80(4):633-49.
Score: 0.236
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Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 2006 Feb; 8(2):86-92.
Score: 0.219
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Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res. 2004 Nov; 14(11):2209-20.
Score: 0.201
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Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet. 2005 Jan; 116(1-2):1-7.
Score: 0.201
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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. Am J Hum Genet. 2004 Jul; 75(1):75-81.
Score: 0.195
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Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet. 2004 Jun; 115(1):1-7.
Score: 0.194
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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet. 2004 Feb; 41(2):113-9.
Score: 0.191
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A girl with duplication 17p10-p12 associated with a dicentric chromosome. Am J Med Genet A. 2004 Jan 15; 124A(2):173-8.
Score: 0.190
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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. Am J Hum Genet. 2003 Dec; 73(6):1302-15.
Score: 0.189
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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003 Nov-Dec; 5(6):430-4.
Score: 0.188
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Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet. 2003 May; 72(5):1101-16.
Score: 0.180
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The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis. Pediatr Radiol. 2003 Mar; 33(3):173-6.
Score: 0.176
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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. Genome Res. 2002 May; 12(5):713-28.
Score: 0.169
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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Clin Genet. 2001 Nov; 60(5):336-44.
Score: 0.163
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A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980.
Score: 0.157
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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet. 2000 Jan; 24(1):84-7.
Score: 0.144
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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. Genomics. 1999 Apr 01; 57(1):180-2.
Score: 0.137
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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. Am J Hum Genet. 1999 Feb; 64(2):471-8.
Score: 0.135
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Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity. Pediatr Res. 1999 Feb; 45(2):159-65.
Score: 0.135
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Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 1997 Jan 01; 39(1):99-103.
Score: 0.117
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A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 1996 May 15; 34(1):128-33.
Score: 0.112
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Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy. Hum Genet. 1996 May; 97(5):642-9.
Score: 0.112
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A clinical and molecular study of mosaicism for trisomy 17. Hum Genet. 1996 Jan; 97(1):69-72.
Score: 0.109
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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 05; 97(5):691-707.
Score: 0.108
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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. Am J Med Genet. 1995 Jan 02; 55(1):30-2.
Score: 0.102
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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. Am J Hum Genet. 1995 Jan; 56(1):175-82.
Score: 0.102
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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. Am J Hum Genet. 1995 Jan; 56(1):91-8.
Score: 0.102
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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet. 1994 Feb; 3(2):223-8.
Score: 0.096
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Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A. 2014 Feb; 164A(2):500-4.
Score: 0.094
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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. Am J Med Sci. 1993 Sep; 306(3):177-84.
Score: 0.093
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Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. Am J Med Genet. 1993 Jan 01; 45(1):92-6.
Score: 0.089
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Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome. Hum Mol Genet. 2013 Feb 15; 22(4):749-56.
Score: 0.088
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Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathol. 1992 Oct; 2(4):337-49.
Score: 0.087
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Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement. Neuro Oncol. 2012 Jul; 14(7):831-40.
Score: 0.085
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec; 49(6):1207-18.
Score: 0.082
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Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet. 2011 Oct 07; 89(4):580-8.
Score: 0.081
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26; 66(2):219-32.
Score: 0.080
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Two MspI RFLPs at the D17S258 locus. Nucleic Acids Res. 1990 Dec 11; 18(23):7196.
Score: 0.077
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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. Am J Hum Genet. 1990 Dec; 47(6):926-34.
Score: 0.077
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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. Am J Hum Genet. 1990 Apr; 46(4):801-9.
Score: 0.073
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Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]. Nucleic Acids Res. 1990 Feb 25; 18(4):1087.
Score: 0.073
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Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A. 2010 Jan 26; 107 Suppl 1:1765-71.
Score: 0.072
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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. J Med Genet. 2009 Dec; 46(12):825-33.
Score: 0.070
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CNV and nervous system diseases--what's new? Cytogenet Genome Res. 2008; 123(1-4):54-64.
Score: 0.068
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The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. Am J Med Genet A. 2008 Apr 01; 146A(7):917-24.
Score: 0.064
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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet. 2007 Jun; 71(6):540-50.
Score: 0.060
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Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet. 2007 Jul; 121(6):697-709.
Score: 0.060
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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet. 2007 Jan; 71(1):67-75.
Score: 0.058
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Genome structural variation and sporadic disease traits. Nat Genet. 2006 Sep; 38(9):974-6.
Score: 0.057
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Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr. 2006 Jun; 27(3):188-92.
Score: 0.056
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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20; 440(7087):1045-9.
Score: 0.056
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Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol. 2006 Feb; 21(2):93-8.
Score: 0.055
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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. Am J Med Genet A. 2005 Oct 01; 138A(2):175-80.
Score: 0.054
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Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis. Am J Hematol. 2005 Aug; 79(4):309-13.
Score: 0.053
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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. Am J Hum Genet. 2005 Apr; 76(4):652-62.
Score: 0.051
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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. Hum Mol Genet. 2004 Nov 01; 13(21):2613-24.
Score: 0.050
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Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Hum Mol Genet. 2004 Feb 15; 13(4):367-78.
Score: 0.048
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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. Am J Hum Genet. 2004 Jan; 74(1):1-10.
Score: 0.047
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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. Mol Cell Biol. 2003 May; 23(10):3646-55.
Score: 0.045
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Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits. Cold Spring Harb Symp Quant Biol. 2003; 68:445-54.
Score: 0.044
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Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res. 2002 May; 12(5):729-38.
Score: 0.042
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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. Genome Res. 2001 Jul; 11(7):1205-10.
Score: 0.040
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New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis. Clin Chem. 2001 May; 47(5):838-43.
Score: 0.039
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
Score: 0.038
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Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era. Genomics. 2000 Jul 01; 67(1):78-82.
Score: 0.037
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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet. 2000 Jun; 37(6):428-33.
Score: 0.037
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Localization of mariner DNA transposons in the human genome by PRINS. Genome Res. 1999 Sep; 9(9):839-43.
Score: 0.035
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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. Genomics. 1999 Aug 01; 59(3):339-41.
Score: 0.035
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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). Genomics. 1999 Feb 01; 55(3):348-52.
Score: 0.034
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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. Clin Genet. 1998 Nov; 54(5):413-6.
Score: 0.033
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Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet. 1998 May; 62(5):1023-33.
Score: 0.032
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Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics. 1998 May 01; 49(3):394-400.
Score: 0.032
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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. Am J Hum Genet. 1998 Apr; 62(4):904-15.
Score: 0.032
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Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med. 1998 Jan; 4(1):3-11.
Score: 0.031
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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet. 1997 Oct; 17(2):154-63.
Score: 0.031
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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 1997 Sep; 6(9):1595-603.
Score: 0.031
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Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics. 1997 May 15; 42(1):161-4.
Score: 0.030
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Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet. 1996 Dec; 98(6):710-8.
Score: 0.029
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Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine (Baltimore). 1996 Sep; 75(5):233-50.
Score: 0.029
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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. Hum Genet. 2016 10; 135(10):1161-74.
Score: 0.028
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DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin Chem. 1996 Jul; 42(7):995-8.
Score: 0.028
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Ophthalmic manifestations of Smith-Magenis syndrome. Ophthalmology. 1996 Jul; 103(7):1084-91.
Score: 0.028
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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996 May; 58(5):998-1007.
Score: 0.028
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Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) Am J Med Genet. 1996 Mar 29; 62(3):247-54.
Score: 0.028
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Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. Am J Med Genet. 1995 Nov 20; 59(3):406-7.
Score: 0.027
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Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. Am J Med Genet. 1995 Sep 11; 58(3):286-91.
Score: 0.027
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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. Am J Hum Genet. 2014 Nov 06; 95(5):565-78.
Score: 0.025
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Molecular genetics of Charcot-Marie-Tooth neuropathy. Adv Hum Genet. 1994; 22:117-52.
Score: 0.024
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Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. JAMA. 1993 Nov 17; 270(19):2326-30.
Score: 0.024
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Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet. 1993 Oct; 53(4):853-63.
Score: 0.023
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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. Am J Med Genet. 1993 Sep 15; 47(4):504-11.
Score: 0.023
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Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology. 1993 Sep; 43(9):1806-8.
Score: 0.023
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Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 1993 Jul 08; 329(2):96-101.
Score: 0.023
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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. Nat Genet. 1992 Dec; 2(4):292-300.
Score: 0.022
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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. Genomics. 1992 Jul; 13(3):551-9.
Score: 0.021
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Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Apr; 1(1):29-33.
Score: 0.021
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Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. PLoS Genet. 2011 Aug; 7(8):e1002247.
Score: 0.020
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Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. J Allergy Clin Immunol. 2011 Jun; 127(6):1579-86.
Score: 0.020
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Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics. 1991 Jan; 9(1):31-6.
Score: 0.019
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Three polymorphisms at the D17S29 locus. Nucleic Acids Res. 1990 Aug 25; 18(16):4958.
Score: 0.019
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Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009 Feb; 41(2):168-77.
Score: 0.017
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Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet. 2006 Sep; 120(2):227-37.
Score: 0.014
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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. Am J Med Genet A. 2004 Jan 15; 124A(2):179-91.
Score: 0.012
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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. Hum Genet. 2001 Nov; 109(5):535-41.
Score: 0.010
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Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci. 1999 Sep 14; 883:457-9.
Score: 0.009
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Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet. 1994 Jun; 54(6):1110-21.
Score: 0.006
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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun; 1(3):159-65.
Score: 0.005