Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
about
Cognition and Behaviour in Sotos Syndrome: A Systematic ReviewNonsense-mediated mRNA decay: inter-individual variability and human diseaseHeterozygosity for nuclear factor one x affects hippocampal-dependent behaviour in miceOvergrowth Syndromes.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection.A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delayClinical and molecular heterogeneity in brazilian patients with sotos syndrome.Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.PAX6 does not regulate Nfia and Nfib expression during neocortical development.Nuclear factor one transcription factors: Divergent functions in developmental versus adult stem cell populations.Truncating mutation in NFIA causes brain malformation and urinary tract defects.Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.Proteome dynamics during postnatal mouse corpus callosum development.One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.Approach to the Diagnosis of Overgrowth Syndromes.Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.Histone Lysine Methylation and Neurodevelopmental Disorders.DIAMUND: direct comparison of genomes to detect mutations.Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.Novel isoforms of the bovine Nuclear factor I/X (CCAAT-binding transcription factor) transcript products and their diverse expression profiles.Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.Molecular mechanisms of childhood overgrowth.Differential neuronal and glial expression of nuclear factor I proteins in the cerebral cortex of adult mice.19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene.Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma.Perinatal findings in a patient with a novel large chromosome 19p deletionAnalysis of hippocampal-dependent learning and memory behaviour in mice lacking Nfix from adult neural stem cellsNFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
P2860
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P2860
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@ast
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@en
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@nl
type
label
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@ast
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@en
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@nl
prefLabel
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@ast
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@en
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@nl
P2093
P2860
P50
P1476
Distinct effects of allelic NF ...... or a Marshall-Smith syndrome.
@en
P2093
Adam C Shaw
Arie van Haeringen
Diana Rajan
Hélène Louis Dit Picard
Marianne Till
Michel Vekemans
Nigel P Carter
Raoul C Hennekam
Sheela Nampoothiri
Silvija Puseljić
P2860
P304
P356
10.1016/J.AJHG.2010.07.001
P407
P50
P577
2010-07-30T00:00:00Z