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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

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

Schendel, S.A.

2019

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Beckwith-Wiedemann syndrome

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

2023

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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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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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(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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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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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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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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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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Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.416-421

2011

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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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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

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

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

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

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

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

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

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

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

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

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