GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region
暂无分享,去创建一个
C. Mervis | C. Morris | C. Moore | R. Hopkin | M. Keating | J. Bertrand | R. Gregg | Annemarie Sommer | G. Ensing | Lucy Osborne | L. Osborne | P. Spallone | A. Stock | Jacquelyn Bertrand | Carolyn B. Mervis | Colleen A. Morris | Holly H. Hobart | Ronald G. Gregg | Gregory J. Ensing | Cynthia A. Moore | Robert J. Hopkin | Patricia A. Spallone | Mark T. Keating | Kendra W. Kimberley | A. Dean Stock | Holly H. Hobart | A. Sommer | K. W. Kimberley | C. Moore
[1] A. Wessel,et al. Statural growth in Williams-Beuren syndrome , 1992, European Journal of Pediatrics.
[2] M. Bayés,et al. Mutational mechanisms of Williams-Beuren syndrome deletions. , 2003, American journal of human genetics.
[3] R. Shiekhattar,et al. A Candidate X-linked Mental Retardation Gene Is a Component of a New Family of Histone Deacetylase-containing Complexes* , 2003, The Journal of Biological Chemistry.
[4] A. Karmiloff-Smith,et al. Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome , 2003, Journal of medical genetics.
[5] C. Mervis,et al. Language Abilities of Individuals with Williams Syndrome , 2003 .
[6] Stephen W. Scherer,et al. A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome , 2001, Nature Genetics.
[7] Carolyn B. Mervis,et al. The Williams Syndrome Cognitive Profile , 2000, Brain and Cognition.
[8] C. Cytrynbaum,et al. Elastin: mutational spectrum in supravalvular aortic stenosis , 2000, European Journal of Human Genetics.
[9] I. Rapin. Handbook of neurodevelopmental and genetic disorders in children , 2000 .
[10] Rumiko Matsuoka,et al. VI. Genome Structure and Cognitive Map of Williams Syndrome , 2000, Journal of Cognitive Neuroscience.
[11] Stephan Eliez,et al. IV. Neuroanatomy of Williams Syndrome: A High-Resolution MRI Study , 2000, Journal of Cognitive Neuroscience.
[12] C A Morris,et al. Williams syndrome and related disorders. , 2000, Annual review of genomics and human genetics.
[13] A Mari,et al. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes , 1999, Journal of medical genetics.
[14] L R Osborne,et al. Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. , 1999, Molecular genetics and metabolism.
[15] N. Bayley. Bayley Scales of Infant Development , 1999 .
[16] C. Mervis,et al. Long deletions of the Williams syndrome region on chromosome 7 result in more severe mental retardation , 1999, Genetics in Medicine.
[17] J M Davidson,et al. Cutis Laxa Arising from Frameshift Mutations in Exon 30 of the Elastin Gene (ELN)* , 1999, The Journal of Biological Chemistry.
[18] Carolyn B. Mervis,et al. Williams syndrome: Findings from an integrated program of research , 1999 .
[19] C. Mervis,et al. Visuospatial construction. , 1999, American journal of human genetics.
[20] A. Karmiloff-Smith,et al. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. , 1999, American journal of human genetics.
[21] U. Francke. Williams-Beuren syndrome: genes and mechanisms. , 1999, Human molecular genetics.
[22] B. Trask,et al. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes , 1998, Human Genetics.
[23] D. Wen,et al. Transmembrane Neuregulins Interact with LIM Kinase 1, a Cytoplasmic Protein Kinase Implicated in Development of Visuospatial Cognition* , 1998, The Journal of Biological Chemistry.
[24] E. Nishida,et al. Cofilin phosphorylation by LIM-kinase 1 and its role in Rac-mediated actin reorganization , 1998, Nature.
[25] P. Caroni,et al. Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase , 1998, Nature.
[26] L. Shaffer,et al. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. , 1998, American journal of medical genetics.
[27] M. Tassabehji,et al. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. , 1998, Human molecular genetics.
[28] U. Francke,et al. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. , 1998, Human molecular genetics.
[29] L. Biesecker. Lumping and splitting: molecular biology in the genetics clinic , 1998, Clinical genetics.
[30] J. Mallet,et al. Fine genetic mapping of LCN1/D9S1826 within 9q34 , 1997, Annals of Human Genetics.
[31] S. Scherer,et al. Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. , 1997, American journal of human genetics.
[32] A. Gosch,et al. Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome , 1997, Developmental medicine and child neurology.
[33] C. Morris,et al. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. , 1997, Human molecular genetics.
[34] L. Sadler,et al. Reduced stereoacuity in Williams syndrome. , 1996, American journal of medical genetics.
[35] A. Schinzel,et al. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. , 1996, Human molecular genetics.
[36] A. Munnich,et al. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. , 1996, American journal of human genetics.
[37] U. Francke,et al. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. , 1996, American journal of human genetics.
[38] Mark Noble,et al. LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition , 1996, Cell.
[39] A. Wessel,et al. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. , 1996, American journal of medical genetics.
[40] A. Wessel,et al. The spectrum of ocular features in the Williams‐Beuren syndrome , 1996, Clinical genetics.
[41] S. Thibodeau,et al. A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. , 1995, Human molecular genetics.
[42] C. Morris,et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. , 1995, American journal of human genetics.
[43] L. Shaffer,et al. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. , 1995, American journal of human genetics.
[44] Charles E. Kahn,et al. Williams elfin-facies syndrome , 1995 .
[45] B. Pober,et al. Williams syndrome--oral presentation of 45 cases. , 1994, Pediatric dentistry.
[46] C A Morris,et al. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. , 1994, The Journal of clinical investigation.
[47] S. Kotthoff,et al. Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course. , 1993, European heart journal.
[48] C. Morris,et al. Williams syndrome: autosomal dominant inheritance. , 1993, American journal of medical genetics.
[49] L. Sadler,et al. The Williams syndrome: evidence for possible autosomal dominant inheritance. , 1993, American journal of medical genetics.
[50] Patricia Spallone,et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome , 1993, Nature Genetics.
[51] C. Morris,et al. Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene. , 1993, American journal of medical genetics.
[52] J. Weber,et al. Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. , 1993, Human molecular genetics.
[53] B. Pober,et al. Renal findings in 40 individuals with Williams syndrome. , 1993, American journal of medical genetics.
[54] M. Leppert,et al. A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[55] Colleen A. Morris,et al. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis , 1993, Cell.
[56] L. Hildman,et al. Kaufman Brief Intelligence Test , 1993 .
[57] S. Bain. Differential Ability Scales , 1991 .
[58] C. Morris,et al. Adults with Williams syndrome. , 1991, American journal of medical genetics. Supplement.
[59] E. Conway,et al. Myocardial infarction leading to sudden death in the Williams syndrome: report of three cases. , 1990, The Journal of pediatrics.
[60] P. Kaplan,et al. Contractures in patients with Williams syndrome. , 1989, Pediatrics.
[61] D. Hagler,et al. Autosomal dominant supravalvular aortic stenosis: large three-generation family. , 1989, American journal of medical genetics.
[62] D. Hagler,et al. Spectrum of Findings in a Family with Nonsyndromic Autosomal Dominant Supravalvular Aortic Stenosis: A Doppler Echocardiographic Study , 1989, Journal of the American College of Cardiology.
[63] C A Morris,et al. Natural history of Williams syndrome: physical characteristics. , 1988, The Journal of pediatrics.
[64] C. Cottrill,et al. Supravalvular aortic stenosis. Clinical and pathologic observations in six patients. , 1985, Archives of pathology & laboratory medicine.
[65] H. Wesselhoeft,et al. [The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's transl)]. , 1980, Zeitschrift fur Kardiologie.
[66] M. Dumoulin,et al. Familial supravalvular aortic stenosis. , 1978, Acta paediatrica Belgica.
[67] David W. Smith,et al. The Williams elfin facies syndrome. A new perspective. , 1975, The Journal of pediatrics.
[68] P. Beighton. The dominant and recessive forms of cutis laxa. , 1972, Journal of medical genetics.