Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors
about
Intellectual disability associated with a homozygous missense mutation in THOC6tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humansNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentHuman USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.The Long and the Short of it: Gene and Environment Interactions During Early Cortical Development and Consequences for Long-Term Neurological Disease.Exome sequencing can improve diagnosis and alter patient management.Analysis of the Bile Salt Export Pump (ABCB11) Interactome Employing Complementary Approaches.COL4A2 mutation associated with familial porencephaly and small-vessel disease.Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensitiesSevere congenital microcephaly with AP4M1 mutation, a case report.A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and MicrocephalyDiabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorderIER3IP1 deficiency leads to increased β-cell death and decreased β-cell proliferation.Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.Phylogenetic Analysis Supports a Link between DUF1220 Domain Number and Primate Brain Expansion.A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation.Influence of luteinizing hormone support on granulosa cells transcriptome in cattle.A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?
P2860
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P2860
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors
description
2011 nî lūn-bûn
@nan
2011 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Microcephaly with simplified g ...... poptosis of neural progenitors
@ast
Microcephaly with simplified g ...... poptosis of neural progenitors
@en
Microcephaly with simplified g ...... poptosis of neural progenitors
@en-gb
Microcephaly with simplified g ...... poptosis of neural progenitors
@nl
type
label
Microcephaly with simplified g ...... poptosis of neural progenitors
@ast
Microcephaly with simplified g ...... poptosis of neural progenitors
@en
Microcephaly with simplified g ...... poptosis of neural progenitors
@en-gb
Microcephaly with simplified g ...... poptosis of neural progenitors
@nl
prefLabel
Microcephaly with simplified g ...... poptosis of neural progenitors
@ast
Microcephaly with simplified g ...... poptosis of neural progenitors
@en
Microcephaly with simplified g ...... poptosis of neural progenitors
@en-gb
Microcephaly with simplified g ...... poptosis of neural progenitors
@nl
P2093
P2860
P921
P3181
P1476
Microcephaly with simplified g ...... poptosis of neural progenitors
@en
P2093
Aida M Bertoli-Avella
Cathryn J Poulton
Esther de Graaff
Frans W Verheijen
Grazia M S Mancini
Marie-Claire Y de Wit
Marta Jones
Rachel Schot
Sima Kheradmand Kia
P2860
P304
P3181
P356
10.1016/J.AJHG.2011.07.006
P407
P577
2011-08-01T00:00:00Z