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Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2010-01, Vol.18 (1), p.8-14

2010

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Beckwith-Wiedemann syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-08, Vol.154C (3), p.343-354

2010

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Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Journal of medical genetics, 2016-01, Vol.53 (1), p.53-61

2016

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Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome

Clinical genetics, 2024-05, Vol.105 (5), p.533-542

2024

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Beckwith-Wiedemann syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2005-08, Vol.137C (1), p.12-23

2005

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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Journal of medical genetics, 2003-01, Vol.40 (1), p.62-64

2003

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Beckwith-Wiedemann syndrome

The Pan African medical journal, 2023, Vol.45, p.17-17

2023

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Beckwith–Wiedemann syndrome

International journal of oral and maxillofacial surgery, 2019-12, Vol.48 (12), p.1606-1607

Schendel, S.A.

2019

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Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders

Journal of human genetics, 2013-07, Vol.58 (7), p.402-409

2013

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Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2261-2264

2016

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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.240-243

2012

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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.183-190

2016

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Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith―Wiedemann syndrome and Silver―Russell syndrome

Human molecular genetics, 2011-04, Vol.20 (7), p.1363-1374

2011

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High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

Human genetics, 2014-03, Vol.133 (3), p.321-330

2014

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Large offspring syndrome: A bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann

Epigenetics, 2013-06, Vol.8 (6), p.591-601

2013

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Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2248-2260

2016

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The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

Journal of medical genetics, 2006-12, Vol.43 (12), p.902-907

2006

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Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.693-708

2019

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The utility of alpha‐fetoprotein screening in Beckwith–Wiedemann syndrome

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.581-584

2017

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Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

Journal of clinical ultrasound, 2020-05, Vol.48 (4), p.240-243

2020

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Pediatric chondrodermatitis nodularis helicis (CNH) in a child with Beckwith‐Wiedemann syndrome (BWS)

Pediatric dermatology, 2019-05, Vol.36 (3), p.388-390

2019

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p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome

The Journal of pathology, 2016-07, Vol.239 (3), p.250-261

2016

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CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1390-1397

2010

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Serum alpha‐fetoprotein screening for hepatoblastoma in Beckwith–Wiedemann syndrome

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.585-587

2017

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Brain abnormalities in patients with Beckwith-Wiedemann syndrome

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1388-1394

2012

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Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Beckwith-Wiedemann syndrome

Beckwith–Wiedemann syndrome

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders

Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen?

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith―Wiedemann syndrome and Silver―Russell syndrome

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

Large offspring syndrome: A bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

The utility of alpha‐fetoprotein screening in Beckwith–Wiedemann syndrome

Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

Pediatric chondrodermatitis nodularis helicis (CNH) in a child with Beckwith‐Wiedemann syndrome (BWS)

p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome

CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

Serum alpha‐fetoprotein screening for hepatoblastoma in Beckwith–Wiedemann syndrome

Brain abnormalities in patients with Beckwith-Wiedemann syndrome

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