Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.
about
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyThe role and interaction of imprinted genes in human fetal growthPseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locusExaminations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.Epigenetic Characterization of CDKN1C in Placenta Samples from Non-syndromic Intrauterine Growth Restriction.Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.New developments in Silver-Russell syndrome and implications for clinical practiceEMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.Translational research in endocrine surgery.Recent Advances in Imprinting Disorders.Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.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.Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures.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.11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia.Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome
P2860
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P2860
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
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name
Clinical significance of copy ...... and review of the literature.
@ast
Clinical significance of copy ...... and review of the literature.
@en
type
label
Clinical significance of copy ...... and review of the literature.
@ast
Clinical significance of copy ...... and review of the literature.
@en
prefLabel
Clinical significance of copy ...... and review of the literature.
@ast
Clinical significance of copy ...... and review of the literature.
@en
P2093
P2860
P921
P1476
Clinical significance of copy ...... and review of the literature.
@en
P2093
Andreas Dufke
Isabel Spier
Magdalena Gogiel
Matthias Begemann
Michael Bonin
Regina C Betz
Sabrina Spengler
Thomas Eggermann
Ute Grasshoff
P2860
P304
P356
10.1136/JMEDGENET-2012-100967
P407
P577
2012-07-26T00:00:00Z
2012-09-01T00:00:00Z