Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
about
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsSTRA6: role in cellular retinol uptake and effluxHeterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsA trans-acting protein effect causes severe eye malformation in the Mp mouseSTRA6 is critical for cellular vitamin A uptake and homeostasis.Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.Carbonic anhydrase 9 expression increases with vascular endothelial growth factor-targeted therapy and is predictive of outcome in metastatic clear cell renal cancer.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromePericonceptional folate consumption is associated with neonatal DNA methylation modifications in neural crest regulatory and cancer development genesNovel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.The zebrafish eye-a paradigm for investigating human ocular genetics.Genetic Advances in Microphthalmia.Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient.De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.
P2860
Q24298949-20598F89-43AA-4D35-AD1C-A6C107FCD0C1Q26796608-DFBC5AC4-C0D9-420E-AE42-64FEBDA3E7C8Q28306581-A4A2607F-7016-4F78-9DF4-7CA6A12529FEQ28508709-903C0D9F-F07A-4377-9BD0-742CF6FFAD00Q34211826-AC59822B-36C3-4E30-A8DB-D05C81CBDB93Q34237629-81532F99-D9E2-48D1-941F-0C7B010AFAFDQ35540063-37DD2801-4193-4B9F-AC88-F7F2B4FE7E65Q36001944-A653A766-BFCE-4CFE-9889-B2CE8A76E18FQ36833380-EB8422CA-0653-49F1-80B8-336854E74E1AQ37058029-87732D70-4351-4066-8A06-B8B38BFB2283Q38517281-0385C166-F9D7-46D4-B126-AC0953759E0EQ38797075-AB574175-FA11-4E15-AF33-F6569A89B312Q38822858-C3F8CC25-60F2-4AB4-8D1A-8A80692D42C1Q39023010-FF5BD5BF-D26C-44CA-941F-0B7BB1FBAE8BQ39140500-B2ED50E0-1A3A-4AC8-B5BE-B09B2E3EF9A6Q41490178-407BD5C4-B070-4D25-96D1-326FAD59E226Q47100462-2C9133EC-5805-4EB1-B724-4FD3B6C5C490Q48721676-E6DF589D-257E-4DC0-B73E-598C0E56231FQ52113860-95F39FBA-29DC-4FC2-A78A-BBF459847B41Q52127630-97E80974-ED02-4098-B42A-1CCB848EFB9BQ52138689-9E8A5FF6-8E7A-40D3-9365-0F61F5A29417Q52772454-41FDD37E-97F3-4A5F-8952-9239577E9BC3
P2860
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 27 March 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Clinical and mutation analysis ...... hthalmia from a single center.
@en
Clinical and mutation analysis ...... hthalmia from a single center.
@nl
type
label
Clinical and mutation analysis ...... hthalmia from a single center.
@en
Clinical and mutation analysis ...... hthalmia from a single center.
@nl
prefLabel
Clinical and mutation analysis ...... hthalmia from a single center.
@en
Clinical and mutation analysis ...... hthalmia from a single center.
@nl
P2093
P2860
P356
P1476
Clinical and mutation analysis ...... hthalmia from a single center.
@en
P2093
David R Fitzpatrick
Jacqueline K Rainger
Kathleen Williamson
Morad Ansari
Rudolf F Guthoff
Stefani Tech
Theodor Zimmermann
Volker Hingst
P2860
P356
10.1002/MGG3.2
P577
2013-03-27T00:00:00Z