Literature DB >> 10329018

Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.

L R Osborne1.   

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Year:  1999        PMID： 10329018     DOI： 10.1006/mgme.1999.2844

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  15 in total

1.  Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.

Authors:  Udaya DeSilva; Laura Elnitski; Jacquelyn R Idol; Johannah L Doyle; Weiniu Gan; James W Thomas; Scott Schwartz; Nicole L Dietrich; Stephen M Beckstrom-Sternberg; Jennifer C McDowell; Robert W Blakesley; Gerard G Bouffard; Pamela J Thomas; Jeffrey W Touchman; Webb Miller; Eric D Green
Journal:  Genome Res       Date:  2002-01       Impact factor: 9.043

2.  A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Authors:  L R Osborne; M Li; B Pober; D Chitayat; J Bodurtha; A Mandel; T Costa; T Grebe; S Cox; L C Tsui; S W Scherer
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

3.  Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.

Authors:  Michael A Crackower; Nadine K Kolas; Junko Noguchi; Renu Sarao; Kazuhiro Kikuchi; Hiroyuki Kaneko; Eiji Kobayashi; Yasuhiro Kawai; Ivona Kozieradzki; Rushin Landers; Rong Mo; Chi-Chung Hui; Edward Nieves; Paula E Cohen; Lucy R Osborne; Teiji Wada; Tetsuo Kunieda; Peter B Moens; Josef M Penninger
Journal:  Science       Date:  2003-05-23       Impact factor: 47.728

4.  High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Authors:  B R Pober; E Wang; S Caprio; K F Petersen; C Brandt; T Stanley; L R Osborne; J Dzuria; B Gulanski
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-05-15       Impact factor: 3.908

5.  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

6.  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

7.  Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.

Authors:  Timothy A Hinsley; Pamela Cunliffe; Hannah J Tipney; Andrew Brass; May Tassabehji
Journal:  Protein Sci       Date:  2004-10       Impact factor: 6.725

8.  SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

Authors:  Binita M Kamath; Brian D Thiel; Xiaowu Gai; Laura K Conlin; Pedro S Munoz; Joseph Glessner; Dinah Clark; Daniel M Warthen; Tamim H Shaikh; Ercan Mihci; David A Piccoli; Struan F A Grant; Hakon Hakonarson; Ian D Krantz; Nancy B Spinner
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878

Review 9.  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

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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