The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
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Silver-Russell syndrome: genetic basis and molecular genetic testingEpimutation and cancer: a new carcinogenic mechanism of Lynch syndrome (Review)Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyBehavioural abnormalities in a novel mouse model for Silver Russell Syndrome.Mucins: a new family of epigenetic biomarkers in epithelial cancers.Cdkn1c (p57Kip2) is the major regulator of embryonic growth within its imprinted domain on mouse distal chromosome 7.No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational age.Epigenetic and genetic diagnosis of Silver-Russell syndrome.Epigenotype-phenotype correlations in Silver-Russell syndromeLow frequency of imprinting defects in ICSI children born small for gestational age.Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.IGF-I and IGF Binding Protein-3 Generation Tests and Response to Growth Hormone in Children with Silver-Russell Syndrome.A review of known imprinting syndromes and their association with assisted reproduction technologies.Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.Dnmt3a Regulates Proliferation of Muscle Satellite Cells via p57Kip2.Placental 5-methylcytosine and 5-hydroxymethylcytosine patterns associate with size at birth.Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.Two distinct mechanisms of silencing by the KvDMR1 imprinting control region.Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.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.The placental imprintome and imprinted gene function in the trophoblast glycogen cell lineageContemplating effects of genomic structural variation.The clinical context of copy number variation in the human genome.Human imprinting syndromes.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.Multilocus methylation defects in imprinting disorders.Role of DNA methylation in imprinting disorders: an updated review.Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease.Looking for CDKN1C enhancers.Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.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.CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome.Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
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The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 08 September 2006
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
@en
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
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The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
@en
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
@nl
prefLabel
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
@en
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
@nl
P2093
P2860
P356
P1476
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
@en
P2093
Andreas Roos
Angela Schmidt
Esther Meyer
Hartmut A Wollmann
Nadine Schönherr
Thomas Eggermann
P2860
P356
10.1136/JMG.2006.044370
P407
P577
2006-09-08T00:00:00Z