SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
about
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic developmentCandidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohortPleiotropic effects of Sox2 during the development of the zebrafish epithalamusAssociation of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.Genetic regulation of pituitary gland development in human and mouseExamination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypesSOX2 is required for inner ear neurogenesis.SOX2 hypomorphism disrupts development of the prechordal floor and optic cupNovel SOX2 partner-factor domain mutation in a four-generation familySepto-optic dysplasiaOTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotypeIsolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringEye development genes and known syndromesParent-of-origin effects in SOX2 anophthalmia syndromeIdentification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.A practical guide to the management of anophthalmia and microphthalmia.Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification AssayChromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomaliesMLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies.Stage-dependent modes of Pax6-Sox2 epistasis regulate lens development and eye morphogenesis.Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome.An interaction network of mental disorder proteins in neural stem cellsMutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Negative forSOX2MutationAnal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassingSOX2
P2860
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P2860
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
SOX2 anophthalmia syndrome: 12 ...... uency of large gene deletions.
@ast
SOX2 anophthalmia syndrome: 12 ...... uency of large gene deletions.
@en
type
label
SOX2 anophthalmia syndrome: 12 ...... uency of large gene deletions.
@ast
SOX2 anophthalmia syndrome: 12 ...... uency of large gene deletions.
@en
prefLabel
SOX2 anophthalmia syndrome: 12 ...... uency of large gene deletions.
@ast
SOX2 anophthalmia syndrome: 12 ...... uency of large gene deletions.
@en
P2093
P2860
P356
P1476
SOX2 anophthalmia syndrome: 12 ...... uency of large gene deletions.
@en
P2093
D J Bunyan
D O Robinson
D Pascuel-Salcedo
P2860
P304
P356
10.1136/BJO.2007.117929
P407
P577
2007-05-23T00:00:00Z