Haploinsufficiency ofRCBTB1is associated with Coats disease and familial exudative vitreoretinopathy

Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish

(2015) Fatma O. Kok et al.   DEVELOPMENTAL CELL

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability

(2014) Moran Gal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial exudative vitreoretinopathy mimicking macular telangiectasia type 1

(2014) Matthew P. Simunovic et al.   CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE

Familial exudative vitreoretinopathy and related retinopathies

(2014) D F Gilmour   EYE

Diversity of Retinal Vascular Anomalies in Patients with Familial Exudative Vitreoretinopathy

(2014) Amir H. Kashani et al.   OPHTHALMOLOGY

High Prevalence of Peripheral Retinal Vascular Anomalies in Family Members of Patients with Familial Exudative Vitreoretinopathy

(2013) Amir H. Kashani et al.   OPHTHALMOLOGY

A Novel Cell Lysis Approach Reveals That Caspase-2 Rapidly Translocates from the Nucleus to the Cytoplasm in Response to Apoptotic Stimuli

(2013) Alexander A. Tinnikov et al.   PLoS One

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

(2013) R. W. J. Collin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fbxw7 Controls Angiogenesis by Regulating Endothelial Notch Activity

(2012) Nanae Izumi et al.   PLoS One

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

(2010) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

(2010) James A. Poulter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease

(2010) J. M. Robitaille et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Clld7, A Candidate Tumor Suppressor on Chromosome 13q14, Regulates Pathways of DNA Damage/Repair and Apoptosis

(2010) X. Zhou et al.   CANCER RESEARCH

A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis

(2010) B Morris et al.   EYE

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

(2010) Konstantinos Nikopoulos et al.   HUMAN MUTATION

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband

(2010) Phoebe Lin et al.   JOURNAL OF AAPOS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

The molecular basis of human retinal and vitreoretinal diseases

(2010) Wolfgang Berger et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The Ubiquitin Conjugating Enzyme, UbcM2, Engages in Novel Interactions with Components of Cullin-3 Based E3 Ligases†

(2009) Kendra S. Plafker et al.   BIOCHEMISTRY

TSPAN12 Regulates Retinal Vascular Development by Promoting Norrin- but Not Wnt-Induced FZD4/β-Catenin Signaling

(2009) Harald J. Junge et al.   CELL

Vascular morphogenesis in the zebrafish embryo

(2009) Elín Ellertsdóttir et al.   DEVELOPMENTAL BIOLOGY

A NovelNDPMutation in an Infant with Unilateral Persistent Fetal Vasculature and Retinal Vasculopathy

(2009) Elisabeth P. Aponte et al.   OPHTHALMIC GENETICS

Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused byFZD4Mutations in two Distinct Pedigrees

(2009) Johane M. Robitaille et al.   OPHTHALMIC GENETICS

The RCC1 superfamily: From genes, to function, to disease

(2008) Ouadah Hadjebi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH