Molecular pathogenesis and management strategies of ectopia lentis

Ectopia lentis et pupillae in four generations caused by novel mutations in theADAMTSL4gene

(2013) Yassi Sharifi et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Grading in ectopia lentis (GEL): a novel classification system

(2013) Aman Chandra et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina

(2013) Aman Chandra et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations inADAMTS18

(2013) Mohammed A. Aldahmesh et al.   HUMAN MUTATION

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

(2013) Ivana Peluso et al.   Orphanet Journal of Rare Diseases

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

(2012) Ramona Haji-Seyed-Javadi et al.   HUMAN MUTATION

Familial spherophakia with short stature caused by a novel homozygousADAMTS17mutation

(2012) Arif O. Khan et al.   OPHTHALMIC GENETICS

Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)

(2012) Jun-Hong Zhao et al.   OPHTHALMIC GENETICS

Ectopia lentis as the presenting and primary feature in Marfan syndrome

(2011) Neda Zadeh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Artisan iris-claw lenses for the correction of aphakia in children following lensectomy for ectopia lentis

(2011) Catherine Cleary et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

The ADAMTS(L) family and human genetic disorders

(2011) C. Le Goff et al.   HUMAN MOLECULAR GENETICS

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

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients

(2010) Jose Antonio Aragon-Martin et al.   HUMAN MUTATION

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

Confirmation ofADAMTSL4mutations for autosomal recessive isolated bilateral Ectopia Lentis

(2010) V. Bennouna Greene et al.   OPHTHALMIC GENETICS

A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis

(2009) Dina Ahram et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

(2009) Jose Morales et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

(2009) L. Faivre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Disintegrin-like and Metalloprotease (Reprolysin-type) with Thrombospondin Type 1 Motif (ADAMTS) Superfamily: Functions and Mechanisms

(2009) Suneel S. Apte   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical features of the congenital vitreoretinopathies

(2008) A O Edwards   EYE

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme

(2008) Wendy E. Kutz et al.   HUMAN MUTATION

Focus on molecules: Homeobox protein Chx10

(2007) Li Liang et al.   EXPERIMENTAL EYE RESEARCH