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Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome

published in: Molecular Vision

date of publication: 2014-06-12

main subject: India

Cites articles 22

Date

Title

Authors

2013-06

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans

Mark Lathrop, Franz P W Radner
2012-04-09

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

Mohammed A Aldahmesh, Fowzan S Alkuraya, Arif O. Khan
2012-05-29

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

Catherine Boileau
2011-03-14

ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts
2011-08-03

ADAMTS17 mutation associated with primary lens luxation is widespread among breeds.

Hannes Lohi, David R Sargan, Saija Ahonen
2010-07-09

A homozygous mutation in LTBP2 causes isolated microspherophakia
2010-07

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

Julie Désir
2010-04-07

An ADAMTS17 splice donor site mutation in dogs with primary lens luxation

Robert D. Schnabel, Stephanie McKay, Puya Gharahkhani, Mike Boursnell, Saija Ahonen, Hannes Lohi, David R Sargan
2009-11-01

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

Nada Al Tassan, Brian F Meyer, Fowzan S Alkuraya
2009-04-09

Null mutations in LTBP2 cause primary congenital glaucoma

Chris F. Inglehearn, Carmel Toomes, David Parry, David A. Mackey, Luba Kalaydjieva, Jamie E Craig
2009-08-04

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma
2008-12-01

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

Valérie Cormier-Daire
2007-05-01

LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein
2007-09-01

Cardiac findings in Weill-Marchesani syndrome

Javad Kojuri, Amir Aslani
2006-03-01

Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis

Byoung Sun Chu
2004-11

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

Valérie Cormier-Daire, Laurence Faivre, Arnold Munnich, André Mégarbané, Hélène Dollfus, Laurence Legeai-Mallet, Celine Huber, Catherine Benoist-Lasselin
2003-01-01

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Catherine Boileau, Valérie Cormier-Daire
1997-04-01

Weill-Marchesani syndrome: report of an unusual case

Nicola Giordano
1992

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

David N. Cooper
1986-11-01

[Weill-Marchesani syndrome]
1985-07-01

Weill-Marchesani syndrome with bilateral angle-closure glaucoma.
1969-06-01

The Marchesani syndrome. A brief review

Article - wd:Q33753825

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