Whole exome analysis identifies dominantCOL4A1mutations in patients with complex ocular phenotypes involving microphthalmia

Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia

(2013) Naiara Akizu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

(2013) Lucas Fares-Taie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

(2013) Fatema Zahrani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

(2013) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing identified a homozygousFNBP4mutation in a family with a condition similar to microphthalmia with limb anomalies

(2013) Yukiko Kondo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

(2013) S. Anazi et al.   CLINICAL GENETICS

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

(2013) KF Schilter et al.   CLINICAL GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Phenotypic Spectrum ofCOL4A1Mutations: Porencephaly to Schizencephaly

(2012) Yuriko Yoneda et al.   ANNALS OF NEUROLOGY

Childhood presentation of COL4A1 mutations

(2012) SIDDHARTH SHAH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Homozygous null mutation in ODZ3 causes microphthalmia in humans

(2012) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

(2012) D. S. Kuo et al.   HUMAN MOLECULAR GENETICS

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

(2012) T. J. Dixon-Salazar et al.   Science Translational Medicine

Prenatal genetic confirmation of aCOL4A1mutation presenting with sonographic fetal intracranial hemorrhage

(2012) K. D. Lichtenbelt et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

The genetics of anophthalmia and microphthalmia

(2011) Tanya M. Bardakjian et al.   CURRENT OPINION IN OPHTHALMOLOGY

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

(2011) M. E. C. Meuwissen et al.   NEUROLOGY

COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification

(2011) J. Livingston et al.   NEUROPEDIATRICS

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

(2011) Cassandre Labelle-Dumais et al.   PLoS Genetics

Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain

(2010) Emmanuelle Plaisier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FOXE3plays a significant role in autosomal recessive microphthalmia

(2010) Linda M. Reis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ophthalmological Features Associated With COL4A1 Mutations

(2010) Isabelle Coupry   ARCHIVES OF OPHTHALMOLOGY

Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006

(2010) Samantha E. Parker et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

(2010) KF Schilter et al.   CLINICAL GENETICS

Distribution of α(IV) collagen chains in the ocular anterior segments of adult mice

(2010) Kenji Saito et al.   CONNECTIVE TISSUE RESEARCH

ACUTE URINARY RETENTION DUE TO A NOVEL COLLAGEN COL4A1 MUTATION

(2010) T. Rouaud et al.   NEUROLOGY

NovelSOX2mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

(2009) Adele Schneider et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

(2009) Linda S. de Vries et al.   ANNALS OF NEUROLOGY

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly

(2009) Siddharth Shah et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY