Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
about
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyBehavioural abnormalities in a novel mouse model for Silver Russell Syndrome.Epigenetic and genetic diagnosis of Silver-Russell syndrome.Primordial dwarfism: overview of clinical and genetic aspects.Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.Epigenetic alterations in sperm associated with male infertility.Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease.Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome.Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.
P2860
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P2860
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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name
Microduplication of the ICR2 d ...... ilial Silver-Russell syndrome.
@en
Microduplication of the ICR2 d ...... ilial Silver-Russell syndrome.
@nl
type
label
Microduplication of the ICR2 d ...... ilial Silver-Russell syndrome.
@en
Microduplication of the ICR2 d ...... ilial Silver-Russell syndrome.
@nl
prefLabel
Microduplication of the ICR2 d ...... ilial Silver-Russell syndrome.
@en
Microduplication of the ICR2 d ...... ilial Silver-Russell syndrome.
@nl
P2093
P2860
P356
P1476
Microduplication of the ICR2 d ...... ilial Silver-Russell syndrome.
@en
P2093
Adriano Bonaldi
Angela M Vianna-Morgante
Isabel M Furquim
Juliana F Mazzeu
Lilian M J Albano
Rachel S Honjo
Silvia S Costa
P2860
P304
P356
10.1002/AJMG.A.34023
P407
P577
2011-09-09T00:00:00Z