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Literature DB >> 12566524

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome.

A Karmiloff-Smith, J Grant, S Ewing, M J Carette, K Metcalfe, D Donnai, A P Read, M Tassabehji.

Abstract

Entities: Disease

Mesh：

Year: 2003 PMID： 12566524 PMCID： PMC1735363 DOI： 10.1136/jmg.40.2.136

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

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25 in total

1. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Authors: Lisa Edelmann; Aaron Prosnitz; Sherly Pardo; Jahnavi Bhatt; Ninette Cohen; Tara Lauriat; Leonid Ouchanov; Patricia J González; Elina R Manghi; Pamela Bondy; Marcela Esquivel; Silvia Monge; Marietha F Delgado; Alessandra Splendore; Uta Francke; Barbara K Burton; L Alison McInnes
Journal: J Med Genet Date: 2006-09-13 Impact factor: 6.318

2. 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

3. 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

4. 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

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome.

1. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

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

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

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

Review 5. Copy number variants at Williams-Beuren syndrome 7q11.23 region.

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

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

8. Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.

Review 9. CNV and nervous system diseases--what's new?

Review 10. Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.