4.0 Review

Current Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

Arif O. Khan et al.

OPHTHALMIC GENETICS (2015)

Letter Ophthalmology

Prevalence of ectopia lentis and retinal detachment in Marfan syndrome

Aman Chandra et al.

ACTA OPHTHALMOLOGICA (2014)

Article Genetics & Heredity

Autosomal Recessive Stickler Syndrome Due to a Loss of Function Mutation in the COL9A3 Gene

Flavio Faletra et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Article Ophthalmology

Epidemiology of myopia

P. J. Foster et al.

Article Genetics & Heredity

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

Mohammed A. Aldahmesh et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Biochemistry & Molecular Biology

Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment

Mirna Kirin et al.

HUMAN MOLECULAR GENETICS (2013)

Review Genetics & Heredity

Bringing genome-wide association findings into clinical use

Teri A. Manolio

NATURE REVIEWS GENETICS (2013)

Review Ophthalmology

X-linked Juvenile Retinoschisis (XLRS): A Review of Genotype-Phenotype Relationships

David Y. Kim et al.

SEMINARS IN OPHTHALMOLOGY (2013)

Article Ophthalmology

The distinct ophthalmic phenotype of Knobloch syndrome in children

Arif O. Khan et al.

BRITISH JOURNAL OF OPHTHALMOLOGY (2012)

Article Genetics & Heredity

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

Shikma Mordechai et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Genetics & Heredity

A Loss of Function Mutation in the COL9A2 Gene Cause Autosomal Recessive Stickler Syndrome

Stuart Baker et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Ophthalmology

Population-Based Estimate of the Sibling Recurrence Risk Ratio for Rhegmatogenous Retinal Detachment

Danny Mitry et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)

Review Ophthalmology

PATHOGENESIS OF RHEGMATOGENOUS RETINAL DETACHMENT Predisposing Anatomy and Cell Biology

Danny Mitry et al.

RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2010)

Article Ophthalmology

Retinal detachment

Ragnar Törnquist et al.

ACTA OPHTHALMOLOGICA (2009)

Article Ophthalmology

COL1A1 and COL2A1 Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the COL2A1 Locus

Ravikanth Metlapally et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)

Article Genetics & Heredity

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration

J. Fielding Hejtmancik et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Ophthalmology

Adult vitreous structure and postnatal changes

M. M. Le Goff et al.

Article Ophthalmology

Molecular Genetics of Human Myopia: An Update

Terri L. Young

OPTOMETRY AND VISION SCIENCE (2008)

Article Biochemistry & Molecular Biology

Characterization of ceramide synthase 2 - Tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate

Elad L. Laviad et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Ophthalmology

Collagen distribution in the human vitreoretinal interface

Theodorus L. Ponsioen et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)

Article Genetics & Heredity

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene

Guy Van Camp et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Ophthalmology

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment

AJ Richards et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)

Article Ophthalmology

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene

SL Go et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)

Article Ophthalmology

Retinal detachment in Marfan syndrome - Clinical characteristics and surgical outcome

T Sharma et al.

RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2002)

Article Ophthalmology

Molecular genetics of rhegmatogenous retinal detachment

AJ Richards et al.

Article Ophthalmology

Pathology and pathogenesis of retinal detachment

NG Ghazi et al.