SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia

Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation

(2015) Silvia E. Racedo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease

(2013) Wei Zhao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

(2012) Rachel Soemedi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

(2012) Mauro Longoni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

(2012) Judith M.A. Verhagen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia

(2012) Karla Bermudez-Wagner et al.   CLINICAL DYSMORPHOLOGY

De novo copy number variants are associated with congenital diaphragmatic hernia

(2012) Lan Yu et al.   JOURNAL OF MEDICAL GENETICS

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

(2012) Paulo Ricardo Gazzola Zen et al.   Sao Paulo Medical Journal

Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features

(2011) Kosuke Izumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2

(2011) E.F. Sanford et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings

(2011) S. Yu et al.   CYTOGENETIC AND GENOME RESEARCH

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia

(2011) Florence Petit et al.   European Journal of Medical Genetics

Prenatally Diagnosed 17q12 Microdeletion Syndrome with a Novel Association with Congenital Diaphragmatic Hernia

(2011) Nancy W. Hendrix et al.   FETAL DIAGNOSIS AND THERAPY

Copy number imbalances detected with a BAC-based array comparative genomic hybridization platform in congenital diaphragmatic hernia fetuses

(2011) I.N. Machado et al.   GENETICS AND MOLECULAR RESEARCH

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

(2011) M. J. Wat et al.   JOURNAL OF MEDICAL GENETICS

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

(2010) Sibel Kantarci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond-Blackfan anaemia

(2010) M. J. Wat et al.   JOURNAL OF MEDICAL GENETICS

Understanding variable expressivity in microdeletion syndromes

(2010) Joris A Veltman et al.   NATURE GENETICS

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

(2010) Kasemsri Srisupundit et al.   PRENATAL DIAGNOSIS

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

(2009) Luis Fernández et al.   BMC Medical Genetics

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos et al.   European Journal of Medical Genetics

PTCH1 duplication in a family with microcephaly and mild developmental delay

(2008) Katarzyna Derwińska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS