Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk.
about
Mutation of SALL2 causes recessive ocular coloboma in humans and miceThe small eye phenotype in the EPIC-Norfolk eye study: prevalence and visual impairment in microphthalmos and nanophthalmosTargeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsWhole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaSystemic diagnostic testing in patients with apparently isolated uveal coloboma.STRA6 is critical for cellular vitamin A uptake and homeostasis.Active surveillance of visual impairment due to adverse drug reactions: findings from a national study in the United Kingdom.Severe visual impairment and blindness in infants: causes and opportunities for control.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for researchClinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.Neural crest derivatives in ocular development: discerning the eye of the stormSpectrum of congenital defects of the eye and its adnexia in the pediatric age group; experience at a tertiary facility in Nigeria.Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark.Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation.Successful conjunctival socket expansion in anophthalmic patients until the age of 2 years: an outpatient procedure.New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.Congenital eye anomaly surveillance in England and Wales. How effective is the national system?Survey of microphthalmia in Japan.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.Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.Cell Behaviors during Closure of the Choroid Fissure in the Developing Eye.3D Orbital Reconstruction in a Patient with Microphthalmos and a Large Orbital Cyst-A Case Report.Chromosomal microarray analysis in ocular developmental anomalies.Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.
P2860
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P2860
Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Anophthalmos, microphthalmos, ...... e study of incidence and risk.
@en
Anophthalmos, microphthalmos, ...... e study of incidence and risk.
@nl
type
label
Anophthalmos, microphthalmos, ...... e study of incidence and risk.
@en
Anophthalmos, microphthalmos, ...... e study of incidence and risk.
@nl
prefLabel
Anophthalmos, microphthalmos, ...... e study of incidence and risk.
@en
Anophthalmos, microphthalmos, ...... e study of incidence and risk.
@nl
P2093
P356
P1476
Anophthalmos, microphthalmos, ...... e study of incidence and risk.
@en
P2093
Amy E Taylor
Clare E Gilbert
Isabelle Russell-Eggitt
Nicola K Ragge
Shaheen P Shah
Surveillance of Eye Anomalies (SEA-UK) Special Interest Group
P304
P356
10.1167/IOVS.10-5263
P407
P577
2011-01-01T00:00:00Z