about
GPR158, an orphan member of G protein-coupled receptor Family C: glucocorticoid-stimulated expression and novel nuclear roleThe Genetics and the Genomics of Primary Congenital GlaucomaMutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisGenetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypesPeroxidasin is essential for eye development in the mouseNovel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.Whole exome sequence analysis of Peters anomaly.Lhx4 deficiency: increased cyclin-dependent kinase inhibitor expression and pituitary hypoplasia.Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeStrain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.Using genetic mouse models to gain insight into glaucoma: Past results and future possibilities.PITX2 and FOXC1 spectrum of mutations in ocular syndromesIdentification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.Absence of NR2E1 mutations in patients with aniridia.Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkGene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome.Peters plus anomaly in a Cameroonian child: a case report.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris developmentCongenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf.Evidence of the phenotypic expression of a lethal recessive allele under inbreeding in a wild population of conservation concern.An examination of the regulatory mechanism of Pxdn mutation-induced eye disorders using microarray analysis.Deficiency of the RNA binding protein caprin2 causes lens defects and features of Peters anomaly.Ocular surface development and gene expression.Surgical management and scheimpflug analysis of an atypical lens coloboma.Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia.Ocular and uteroplacental pathology in a macaque pregnancy with congenital Zika virus infection.Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.PITX2 deficiency and associated human disease: insights from the zebrafish model.A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.Ciliary margin-derived BMP4 does not have a major role in ocular development.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Genetics of anterior segment dysgenesis disorders.
@ast
Genetics of anterior segment dysgenesis disorders.
@en
type
label
Genetics of anterior segment dysgenesis disorders.
@ast
Genetics of anterior segment dysgenesis disorders.
@en
prefLabel
Genetics of anterior segment dysgenesis disorders.
@ast
Genetics of anterior segment dysgenesis disorders.
@en
P2860
P1476
Genetics of anterior segment dysgenesis disorders.
@en
P2093
Linda M Reis
P2860
P304
P356
10.1097/ICU.0B013E328349412B
P577
2011-09-01T00:00:00Z