Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

(2012) Redouane Allache et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Maternal PCMT1 gene polymorphisms and the risk of neural tube defects in a Chinese population of Lvliang high-risk area

(2012) Huizhi Zhao et al.   GENE

Identification of novel rare mutations of DACT1 in human neural tube defects

(2012) Yan Shi et al.   HUMAN MUTATION

Association Study of PARD3 Gene Polymorphisms With Neural Tube Defects in a Chinese Han Population

(2012) Yonghui Gao et al.   Reproductive Sciences

Chromosomal abnormalities in fetuses with ultrasonographically detected neural tube defects

(2011) Hakan Kant et al.   CLINICAL DYSMORPHOLOGY

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

(2011) Ji E Lee et al.   CURRENT OPINION IN NEUROLOGY

Clinical utility gene card for: Meckel syndrome

(2011) R Salonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

(2011) J. H. Seo et al.   HUMAN MOLECULAR GENETICS

FZD6is a novel gene for human neural tube defects

(2011) Patrizia De Marco et al.   HUMAN MUTATION

Mutations in the planar cell polarity genesCELSR1andSCRIBare associated with the severe neural tube defect craniorachischisis

(2011) Alexis Robinson et al.   HUMAN MUTATION

Identification and characterization of novel rare mutations in the planar cell polarity genePRICKLE1in human neural tube defects

(2011) Ciprian M. Bosoi et al.   HUMAN MUTATION

Association Between a 45-bp 3′Untranslated Insertion/Deletion Polymorphism in Exon 8 of UCP2 Gene and Neural Tube Defects in a High-Risk Area of China

(2011) Jianhua Wang et al.   Reproductive Sciences

Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study

(2010) Xiaoli Chen et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Contribution of VANGL2 mutations to isolated neural tube defects

(2010) Z Kibar et al.   CLINICAL GENETICS

Identification of Signaling Pathways Regulating Primary Cilium Length and Flow-Mediated Adaptation

(2010) Tatiana Y. Besschetnova et al.   CURRENT BIOLOGY

The polarity protein Pard3 is required for centrosome positioning during neurulation

(2010) Elim Hong et al.   DEVELOPMENTAL BIOLOGY

Primary Cilium-Dependent and -Independent Hedgehog Signaling Inhibits p16INK4A

(2010) Cleo L. Bishop et al.   MOLECULAR CELL

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

(2010) Hansoo Park et al.   NATURE GENETICS

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

(2010) Josée Dupuis et al.   NATURE GENETICS

VANGL2Mutations in Human Cranial Neural-Tube Defects

(2010) Yun-Ping Lei et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

Microarray-Based Genomic DNA Profiling Technologies in Clinical Molecular Diagnostics

(2009) Y. Shen et al.   CLINICAL CHEMISTRY

Recent Studies on Neural Tube Defects in Embryos of Diabetic Pregnancy: An Overview

(2009) S. Dheen et al.   CURRENT MEDICINAL CHEMISTRY

The Par3/aPKC interaction is essential for end bud remodeling and progenitor differentiation during mammary gland morphogenesis

(2009) L. M. McCaffrey et al.   GENES & DEVELOPMENT

A genome-wide survey of copy number variations in Han Chinese residing in Taiwan

(2009) Chien-Hsing Lin et al.   GENOMICS

Genetics of human neural tube defects

(2009) N. D.E. Greene et al.   HUMAN MOLECULAR GENETICS

Novel mutations inVANGL1in neural tube defects

(2009) Zoha Kibar et al.   HUMAN MUTATION

Interaction between PAR-3 and the aPKC-PAR-6 complex is indispensable for apical domain development of epithelial cells

(2009) Y. Horikoshi et al.   JOURNAL OF CELL SCIENCE

Genomic changes detected by array CGH in human embryos with developmental defects

(2009) E. Rajcan-Separovic et al.   MOLECULAR HUMAN REPRODUCTION

Prenatal screening and diagnosis of neural tube defects

(2009) Martin Cameron et al.   PRENATAL DIAGNOSIS

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

(2009) B. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

(2008) Iuliana Ionita-Laza et al.   GENOMICS

Singleton deletions throughout the genome increase risk of bipolar disorder

(2008) D Zhang et al.   MOLECULAR PSYCHIATRY

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Maternal serum vitamin B12, folate and homocysteine and the risk of neural tube defects in the offspring in a high-risk area of China

(2008) Ting Zhang et al.   PUBLIC HEALTH NUTRITION

Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (I)

(2008) Chih-Ping Chen   Taiwanese Journal of Obstetrics & Gynecology

Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (III)

(2008) Chih-Ping Chen   Taiwanese Journal of Obstetrics & Gynecology

Correlation of polymorphism ofMTHFRs andRFC-1 genes with neural tube defects in China

(2007) Yali Shang et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY