相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Genome-Wide Analysis Shows Increased Frequency of Copy Number Variation Deletions in Dutch Schizophrenia Patients
Jacobine E. Buizer-Voskamp et al.
BIOLOGICAL PSYCHIATRY (2011)
The causality of de novo copy number variants is overestimated
Joris R. Vermeesch et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Heredity of bicuspid aortic valve: is family screening indicated?
Kim L. McBride et al.
HEART (2011)
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
Dan Levy et al.
NEURON (2011)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
VEGF signaling has distinct spatiotemporal roles during heart valve development
Kryn Stankunas et al.
DEVELOPMENTAL BIOLOGY (2010)
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
C. Bonnet et al.
JOURNAL OF MEDICAL GENETICS (2010)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al.
NATURE GENETICS (2010)
Genetics of Congenital Heart Disease
Ashleigh A. Richards et al.
CURRENT CARDIOLOGY REVIEWS (2010)
Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies
Lisa Edelmann et al.
YEAR IN HUMAN AND MEDICAL GENETICS 2009 (2009)
Recurrence of Congenital Heart Defects in Families
Nina Oyen et al.
CIRCULATION (2009)
Hypoplastic Left Heart Syndrome Links to Chromosomes 10q and 6q and Is Genetically Related to Bicuspid Aortic Valve
Robert B. Hinton et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2009)
Hypoplastic left heart syndrome
David J. Barron et al.
LANCET (2009)
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
Steven C. Greenway et al.
NATURE GENETICS (2009)
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
Kim L. McBride et al.
HUMAN MOLECULAR GENETICS (2008)
Cryptic chromosomal abnormalities identified in children with congenital heart disease
Ashleigh A. Richards et al.
PEDIATRIC RESEARCH (2008)
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
K. Osoegawa et al.
JOURNAL OF MEDICAL GENETICS (2008)
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
F. Erdogan et al.
JOURNAL OF MEDICAL GENETICS (2008)
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients
Bernard Thienpont et al.
EUROPEAN HEART JOURNAL (2007)
Hypoplastic left heart syndrome is heritable
Robert B. Hinton et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2007)
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
Pawel Stankiewicz et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2007)
Hypoplastic left heart syndrome
Jean Anne Connor et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
A faster circular binary segmentation algorithm for the analysis of array CGH data
E. S. Venkatraman et al.
BIOINFORMATICS (2007)
Global variation in copy number in the human genome
Richard Redon et al.
NATURE (2006)
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
SR Lalani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Mutations in NOTCH1 cause aortic valve disease
V Garg et al.
NATURE (2005)
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability
KL McBride et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
LELM Vissers et al.
NATURE GENETICS (2004)
Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions
MB Lewin et al.
PEDIATRICS (2004)
The incidence of congenital heart disease
JIE Hoffman et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2002)
分享论文
