Null mutations in LTBP2 cause primary congenital glaucoma.
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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thicknessThe phylogeography of Y-chromosome haplogroup h1a1a-m82 reveals the likely Indian origin of the European Romani populationsReconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspectiveLatent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrilsX-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment developmentThe Genetics and the Genomics of Primary Congenital GlaucomaExtracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucomaLatent TGF-β-binding proteinsGenetic, Biochemical and Clinical Insights into Primary Congenital GlaucomaA Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucomaGenotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and BrazilLTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucomaHypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variabilityLocalization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucomaIdentification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital GlaucomaA genome-wide association study of optic disc parameters.Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.Demographic features of subjects with congenital glaucoma.Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.Elevated transforming growth factor β1 in plasma of primary open-angle glaucoma patientsGlaucoma: genes, phenotypes, and new directions for therapy.Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.Gene expression and functional annotation of the human ciliary body epithelia.A novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucomaA genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel LociThe clinical spectrum of complete FBN1 allele deletions.LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.Common and rare genetic risk factors for glaucoma.Genome-wide association study identifies a novel canine glaucoma locusCarrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population.Removal of potentially confounding phenotypes from a Siamese-derived feline glaucoma breeding colony.CYP1B1 copy number variation is not a major contributor to primary congenital glaucomaMutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucomaHomozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaScreening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.Glaucoma in iran and contributions of studies in iran to the understanding of the etiology of glaucoma.
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Null mutations in LTBP2 cause primary congenital glaucoma.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 09 April 2009
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Null mutations in LTBP2 cause primary congenital glaucoma.
@en
Null mutations in LTBP2 cause primary congenital glaucoma.
@en-gb
Null mutations in LTBP2 cause primary congenital glaucoma.
@nl
type
label
Null mutations in LTBP2 cause primary congenital glaucoma.
@en
Null mutations in LTBP2 cause primary congenital glaucoma.
@en-gb
Null mutations in LTBP2 cause primary congenital glaucoma.
@nl
prefLabel
Null mutations in LTBP2 cause primary congenital glaucoma.
@en
Null mutations in LTBP2 cause primary congenital glaucoma.
@en-gb
Null mutations in LTBP2 cause primary congenital glaucoma.
@nl
P2093
P2860
P50
P1476
Null mutations in LTBP2 cause primary congenital glaucoma.
@en
P2093
Adam Booth
Anna-Louise Murphy
David F Gilmour
Dimitar Azmanov
Hussain Jafri
Ivailo Tournev
J Fielding Hejtmancik
Jamie Craig
Katherine Towns
Luba Kalaydjieva
P2860
P304
P356
10.1016/J.AJHG.2009.03.017
P407
P577
2009-04-09T00:00:00Z