14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
about
Deletions of chromosomal regulatory boundaries are associated with congenital disease.Genetic insights into the functional elements of language.Dysregulation of FOXG1 by ring chromosome 14.Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.Genetic disorders associated with postnatal microcephaly.FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.Regulatory variants of FOXG1 in the context of its topological domain organisation.Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.Foxg1 deletion impairs the development of the epithalamus.Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.
P2860
Q34271260-FB548979-DDB7-4E85-9530-81A3352EEA45Q34349576-8983F920-5CC1-4962-B6BF-8A6670613B5CQ35503955-35DBCC25-E73B-44C8-8E13-BA31A091FDF8Q37145746-DB38F916-FC9C-4D60-B8CE-ED00BC65D842Q37317012-EAFA7044-1860-485B-AE80-772BC6F7C34CQ38212652-B20E1A62-5E30-4BFE-8338-40B3860034BAQ38702643-A13DC558-83DE-40DF-9CA3-C62D3DA9872AQ47229502-5CD23CBA-EE5A-41D1-A3D0-89048F8D8323Q48266844-66952A4C-1DEC-47A8-823E-6EEE4265BD8BQ49396272-0800E4C6-96F4-44E4-8EDD-1FFD06D1CAECQ50482296-0A3A6A0C-3336-4DEE-8A89-844478066FC5Q54199836-E9B091E4-6DC9-4AAB-82AB-46175EE3F94D
P2860
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
14q12 and severe Rett-like phe ...... of FOXG1-regulatory elements.
@ast
14q12 and severe Rett-like phe ...... of FOXG1-regulatory elements.
@en
type
label
14q12 and severe Rett-like phe ...... of FOXG1-regulatory elements.
@ast
14q12 and severe Rett-like phe ...... of FOXG1-regulatory elements.
@en
prefLabel
14q12 and severe Rett-like phe ...... of FOXG1-regulatory elements.
@ast
14q12 and severe Rett-like phe ...... of FOXG1-regulatory elements.
@en
P2093
P2860
P356
P1476
14q12 and severe Rett-like phe ...... g of FOXG1-regulatory elements
@en
P2093
Adeline Vigouroux
Aissa Moustaïne
Aline Saunier
Anne Destrée
Christophe Nemos
Christophe Philippe
Daniel Amsallem
Elizabeth Thompson
Eric Bieth
François Rivier
P2860
P2888
P304
P356
10.1038/EJHG.2012.127
P50
P577
2012-06-27T00:00:00Z