Aortopathy in the 7q11.23 microduplication syndrome

Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature

(2014) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

(2013) Jennifer Gladys Mulle et al.   BIOLOGICAL PSYCHIATRY

Elastic fibres in health and disease

(2013) Andrew K. Baldwin et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

7q11.23 Microduplication: a recognizable phenotype

(2012) A Dixit et al.   CLINICAL GENETICS

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease

(2010) Loren F. Hiratzka et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

(2009) Nathalie Van der Aa et al.   European Journal of Medical Genetics

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS