CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
about
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndromeGlobal increase in replication fork speed during a p57KIP2-regulated erythroid cell fate switchBeckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same geneThe KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome casesLhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57Kip2.Dnmt3a Regulates Proliferation of Muscle Satellite Cells via p57Kip2.Maternal-fetal conflict, genomic imprinting and mammalian vulnerabilities to cancer.(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndromePrenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.let-7 and miR-140 microRNAs coordinately regulate skeletal development.Clinical utility gene card for: Beckwith-Wiedemann Syndrome.Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase.Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism.Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
P2860
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P2860
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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name
CDKN1C (p57(Kip2)) analysis in ...... mutations, and polymorphisms.
@en
CDKN1C (p57(Kip2)) analysis in ...... mutations, and polymorphisms.
@nl
type
label
CDKN1C (p57(Kip2)) analysis in ...... mutations, and polymorphisms.
@en
CDKN1C (p57(Kip2)) analysis in ...... mutations, and polymorphisms.
@nl
prefLabel
CDKN1C (p57(Kip2)) analysis in ...... mutations, and polymorphisms.
@en
CDKN1C (p57(Kip2)) analysis in ...... mutations, and polymorphisms.
@nl
P2093
P50
P356
P1476
CDKN1C (p57(Kip2)) analysis in ...... l mutations, and polymorphisms
@en
P2093
Alberta Belinchón
Graciela Mercado
Heloisa Meneses
Jan-Jaap Wesselink
Juan Pedro López-Siguero
Luís Fernandez
Miguel Del Campo
Pablo Lapunzina
Rebeca Palomo
Ricardo Gracia-Bouthelier
P304
P356
10.1002/AJMG.A.33453
P407
P50
P577
2010-06-01T00:00:00Z