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Title
Phenotype of 7q11.23 duplication: A family clinical series
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 173, Issue 1, Pages 114-119
Publisher
Wiley
Online
2016-09-12
DOI
10.1002/ajmg.a.37966
References
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Related references
Note: Only part of the references are listed.- Children with 7q11.23 duplication syndrome: Psychological characteristics
- (2015) Carolyn B. Mervis et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Aortopathy in the 7q11.23 microduplication syndrome
- (2014) Ashley Parrott et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- ELN gene triplication responsible for familial supravalvular aortic aneurysm
- (2014) Anne-Sophie Guemann et al. CARDIOLOGY IN THE YOUNG
- Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature
- (2014) Lucia Margari et al. EUROPEAN JOURNAL OF PEDIATRICS
- Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia
- (2013) Jennifer Gladys Mulle et al. BIOLOGICAL PSYCHIATRY
- 7q11.23 Microduplication: a recognizable phenotype
- (2012) A Dixit et al. CLINICAL GENETICS
- Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome
- (2012) Judith L. Ross et al. PEDIATRICS
- Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
- (2011) Dan Levy et al. NEURON
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
- (2011) Stephan J. Sanders et al. NEURON
- Copy number variants at Williams–Beuren syndrome 7q11.23 region
- (2010) Giuseppe Merla et al. HUMAN GENETICS
- 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
- Further clinical description of duplication of Williams–Beuren region presenting with congenital glaucoma and brachycephaly
- (2008) J.L. Merritt et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion
- (2008) Claudia Torniero et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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