Literature DB >> 12920091

Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome.

R Heller1, A Rauch, S Lüttgen, B Schröder, A Winterpacht.   

Abstract

Entities:  

Mesh：

Year:  2003        PMID： 12920091      PMCID： PMC1735549          DOI： 10.1136/jmg.40.8.e99

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  18 in total

1.  Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.

Authors:  Giuseppe Merla; Cédric Howald; Charlotte N Henrichsen; Robert Lyle; Carine Wyss; Marie-Thérèse Zabot; Stylianos E Antonarakis; Alexandre Reymond
Journal:  Am J Hum Genet       Date:  2006-06-23       Impact factor: 11.025

2.  An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

Authors:  Giovanni Battista Ferrero; Cédric Howald; Lucia Micale; Elisa Biamino; Bartolomeo Augello; Carmela Fusco; Maria Giuseppina Turturo; Serena Forzano; Alexandre Reymond; Giuseppe Merla
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

3.  Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

Authors:  C Howald; G Merla; M C Digilio; S Amenta; R Lyle; S Deutsch; U Choudhury; A Bottani; S E Antonarakis; H Fryssira; B Dallapiccola; A Reymond
Journal:  J Med Genet       Date:  2005-07-01       Impact factor: 6.318

Review 4.  Animal models of Williams syndrome.

Authors:  Lucy R Osborne
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-05-15       Impact factor: 3.908

5.  Autism, language delay and mental retardation in a patient with 7q11 duplication.

Authors:  C Depienne; D Heron; C Betancur; B Benyahia; O Trouillard; D Bouteiller; A Verloes; E Leguern; M Leboyer; A Brice
Journal:  BMJ Case Rep       Date:  2009-06-18

6.  Autism, language delay and mental retardation in a patient with 7q11 duplication.

Authors:  C Depienne; D Heron; C Betancur; B Benyahia; O Trouillard; D Bouteiller; A Verloes; E LeGuern; M Leboyer; A Brice
Journal:  J Med Genet       Date:  2007-03-30       Impact factor: 6.318

7.  Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.

Authors:  Nathan Kopp; Katherine McCullough; Susan E Maloney; Joseph D Dougherty
Journal:  Hum Mol Genet       Date:  2019-10-15       Impact factor: 6.150

Review 8.  CNV and nervous system diseases--what's new?

Authors:  W Gu; J R Lupski
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

Review 9.  Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.

Authors:  Lucy R Osborne; Carolyn B Mervis
Journal:  Expert Rev Mol Med       Date:  2007-06-13       Impact factor: 5.600

10.  Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.

Authors:  L Dai; U Bellugi; X-N Chen; A M Pulst-Korenberg; A Järvinen-Pasley; T Tirosh-Wagner; P S Eis; J Graham; D Mills; Y Searcy; J R Korenberg
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802
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