Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
about
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsFunctional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment diseaseNovel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese familyAssociation of rs6982567 near GDF6 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Han Chinese cohort.Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNovel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Genetic Advances in Microphthalmia.Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.The role of the Rx homeobox gene in retinal progenitor proliferation and cell fate specification.Mandibular dysostosis without microphthalmia caused by OTX2 deletion.Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and MicrophthalmiaNew insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review
P2860
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P2860
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Molecular findings and clinica ...... h anophthalmia/microphthalmia.
@ast
Molecular findings and clinica ...... h anophthalmia/microphthalmia.
@en
type
label
Molecular findings and clinica ...... h anophthalmia/microphthalmia.
@ast
Molecular findings and clinica ...... h anophthalmia/microphthalmia.
@en
prefLabel
Molecular findings and clinica ...... h anophthalmia/microphthalmia.
@ast
Molecular findings and clinica ...... h anophthalmia/microphthalmia.
@en
P2093
P2860
P50
P356
P1433
P1476
Molecular findings and clinica ...... th anophthalmia/microphthalmia
@en
P2093
A Delahaye
A Vigouroux
B Duban-Bedu
C Thauvin-Robinet
D Martin-Coignard
F Giuliano
P2860
P304
P356
10.1111/CGE.12275
P577
2013-10-07T00:00:00Z