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Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

http://www.wikidata.org/entity/Q33679562

about

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation Overgrowth Syndromes.Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology Genetic considerations in the prenatal diagnosis of overgrowth syndromes Genetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways.Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.Disorders caused by chromosome abnormalities.Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.Human imprinting syndromes.Molecular findings in Beckwith-Wiedemann syndrome.(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome.Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management.Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

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P2860

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

http://www.wikidata.org/entity/Q33679562

description

1997 nî lūn-bûn

@nan

1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

1997年の論文

@ja

1997年論文

@yue

1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

@zh-tw

1997年论文

@wuu

name

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

@ast

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

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type

label

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

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Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

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prefLabel

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

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Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

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P1433

Journal of Medical Genetics

P1476

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

@en

P2093

Donnai D

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Gaunt L

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Slavotinek A

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P2860

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway

Monoallelic expression of the human H19 gene

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females

Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome

Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments

Tumor-specific loss of 11p15.5 alleles in del11p13 Wilms tumor and in familial adrenocortical carcinoma.

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature.

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819-826

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scholarly article

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10.1136/JMG.34.10.819

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10

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34

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1997-10-01T00:00:00Z

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13878182

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9350814

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1051088

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