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29 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. A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.

Authors: L M Delgado; M Gutierrez; B Augello; C Fusco; L Micale; G Merla; E A Pastene
Journal: Mol Syndromol Date: 2013-02-28

4. 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

5. Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.

Authors: Maria B Lazebnik; Maria Isabel Tussie-Luna; Philip W Hinds; Ananda L Roy
Journal: J Biol Chem Date: 2009-10-30 Impact factor: 5.157

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

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.

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. A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.

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

5. Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.

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

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

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

9. Enhanced prefrontal serotonin 5-HT(1A) currents in a mouse model of Williams-Beuren syndrome with low innate anxiety.

Review 10. CNV and nervous system diseases--what's new?