Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

How to Include Chromosome X in Your Genome-Wide Association Study

(2014) Inke R. König et al.   GENETIC EPIDEMIOLOGY

eXclusion: Toward Integrating the X Chromosome in Genome-wide Association Analyses

(2013) Anastasia L. Wise et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

(2013) Yi Lu et al.   NATURE GENETICS

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

(2012) Tom R. Webb et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness

(2012) René Hoehn et al.   HUMAN GENETICS

LTBP2gene analysis in theGLC3C-linked family and 94CYP1B1-negative cases with primary congenital glaucoma

(2012) Roshanak Sharafieh et al.   OPHTHALMIC GENETICS

The UK Adult Twin Registry (TwinsUK Resource)

(2012) Alireza Moayyeri et al.   Twin Research and Human Genetics

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

(2010) Annabel C. Whibley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bone morphogenetic protein and growth differentiation factor cytokine families and their protein antagonists

(2010) Christopher C. Rider et al.   BIOCHEMICAL JOURNAL

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia and secondary glaucoma

(2010) Julie Désir et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Collagen-related genes influence the glaucoma risk factor, central corneal thickness

(2010) Eranga N. Vithana et al.   HUMAN MOLECULAR GENETICS

New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8

(2010) Veronique Vitart et al.   HUMAN MOLECULAR GENETICS

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

(2010) Yi Lu et al.   PLoS Genetics

MEGALOCORNEA IN A DANISH GIPSY FAMILY1)

(2009) Erik Rud   ACTA OPHTHALMOLOGICA

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

(2009) Manir Ali et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

(2009) Bertrand Isidor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association of Age, Stature, and Education With Ocular Dimensions in an Older White Population

(2009) Kristine E. Lee   ARCHIVES OF OPHTHALMOLOGY

SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans

(2009) F. Piva et al.   BIOINFORMATICS

The genetics of central corneal thickness

(2009) D. P. Dimasi et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

A novel nonsense mutation inCUL4Bgene in three brothers with X-linked mental retardation syndrome

(2009) M Badura-Stronka et al.   CLINICAL GENETICS

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma

(2009) Mehrnaz Narooie-Nejad et al.   HUMAN MOLECULAR GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

(2008) Almogit Abu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

(2008) Preeti Bakrania et al.   AMERICAN JOURNAL OF HUMAN GENETICS