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Mediator kinase module and human tumorigenesisDisorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesFurther delineation of the KAT6B molecular and phenotypic spectrumNonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].Mediator subunit Med12 contributes to the maintenance of neural stem cell identity.Redefining the MED13L syndromeFibroids: Genotype and Phenotype.A novel MED12 mutation associated with non-specific X-linked intellectual disability.An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.Long non-coding RNAs in neurodevelopmental disorders.Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.Chromatin regulators in neurodevelopment and disease: Analysis of fly neural circuits provides insights: Networks of chromatin regulators and transcription factors underlie Drosophila neurogenesis and cognitive defects in intellectual disability andYY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.MED12 regulates a transcriptional network of calcium-handling genes in the heart.Chronic lymphocytic leukemia: Time to go past genomics?MED12 in hematopoietic stem cells-cell specific function despite ubiquitous expressionMED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.A novel variant in MED12 gene: Further delineation of phenotype.Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.A novel MED12 mutation: Evidence for a fourth phenotype.Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms.Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations
P2860
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P2860
description
2013 nî lūn-bûn
@nan
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
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2013年论文
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2013年论文
@zh-cn
name
Mutations in MED12 cause X-linked Ohdo syndrome
@ast
Mutations in MED12 cause X-linked Ohdo syndrome
@en
type
label
Mutations in MED12 cause X-linked Ohdo syndrome
@ast
Mutations in MED12 cause X-linked Ohdo syndrome
@en
prefLabel
Mutations in MED12 cause X-linked Ohdo syndrome
@ast
Mutations in MED12 cause X-linked Ohdo syndrome
@en
P2093
P2860
P50
P1476
Mutations in MED12 cause X-linked Ohdo syndrome
@en
P2093
Anneke T Vulto-van Silfhout
Anthonie J van Essen
Arjan P M de Brouwer
Ben C J Hamel
Bert B A de Vries
Bregje W M van Bon
Fangjian Gao
Han G Brunner
Hans van Bokhoven
Helger G Yntema
P2860
P304
P356
10.1016/J.AJHG.2013.01.007
P407
P577
2013-02-07T00:00:00Z