Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

Atypical Deletion in Williams–Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty

(2012) Rachel Sayuri Honjo et al.   Journal of Genetics and Genomics

14-3-3 proteins as signaling integration points for cell cycle control and apoptosis

(2011) Alexandra K. Gardino et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

(2010) Melissa B. Ramocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion of 7q11.21-q11.23 and infantile spasms without deletion ofMAGI2

(2010) Benno Röthlisberger et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Giuseppe Merla et al.   HUMAN GENETICS

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice

(2009) Hong Hua Li et al.   EMBO Molecular Medicine

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

(2009) Giovanni Battista Ferrero et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile

(2009) A. Antonell et al.   JOURNAL OF MEDICAL GENETICS

Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF)

(2009) K. Yoshimura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype

(2008) Marilee A. Martens et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development

(2008) B. Enkhmandakh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

(2008) Alyson Ashe et al.   GENOME BIOLOGY