Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. - Wikidata - wikimedia - TriplyDB

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

http://www.wikidata.org/entity/Q53100680

about

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.Mosaicism and clinical genetics.(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.Methylation status of the chromosome arm 19q MicroRNA cluster in sporadic and androgenetic-Biparental mosaicism-associated hepatic mesenchymal hamartoma.Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.Genetic and Epigenetic Control of CDKN1C Expression: Importance in Cell Commitment and Differentiation, Tissue Homeostasis and Human Diseases.Mosaic paternal genome-wide uniparental isodisomy with down syndrome.

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P2860

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

http://www.wikidata.org/entity/Q53100680

description

2013 nî lūn-bûn

@nan

2013年の論文

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2013年学术文章

@wuu

2013年学术文章

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2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

@zh-hant

name

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

@en

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

@nl

type

label

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

@en

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

@nl

prefLabel

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

@en

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

@nl

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American Journal of Medical Genetics

P1476

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

@en

P2093

Alisha B Wilkens

http://www.w3.org/2001/XMLSchema#string

Andrew A Palladino

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Daniel T Swarr

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Elaine H Zackai

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Holly A Dubbs

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Jennifer M Kalish

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Kim E Nichols

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Kosuke Izumi

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Kristin Zelley

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Laura K Conlin

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P2860

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

Plasma alpha fetoprotein reference ranges in infancy: effect of prematurity

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.

Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice.

Chimera and other fertilization errors.

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour

Complex and segmental uniparental disomy updated.

Uniparental disomies 7 and 14.

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1929-1939

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scholarly article

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10.1002/AJMG.A.36045

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8

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161A

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Marisa S Bartolomei

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2013-06-26T00:00:00Z

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23804593

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4082120

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