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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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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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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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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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Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Journal of human genetics, 2016-08, Vol.61 (8), p.765-769

2016

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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

Genetics in medicine, 2019-08, Vol.21 (8), p.1808-1820

2019

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Clinical utility gene card for: Beckwith-Wiedemann Syndrome

European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.435-435

2014

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Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1031-1039

2017

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Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

Genetics in medicine, 2019-11, Vol.21 (11), p.2644-2649

2019

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EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1377-1387

2016

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Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

British journal of cancer, 2020-08, Vol.123 (4), p.619-623

2020

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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619

2009

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Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2005-09, Vol.13 (9), p.1025-1032

2005

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S3570 Beckwith-Wiedemann Syndrome: A Rare Presentation of Chronic Portal Vein Thrombosis with Cavernous Transformation Extending to the Superior Mesenteric Vein

The American journal of gastroenterology, 2023-10, Vol.118 (10S), p.S2331-S2331

2023

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Evidence for anticipation in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1344-1348

2013

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Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply

European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.471-472

2018

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Androgenetic biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes

Journal of human genetics, 2011-01, Vol.56 (1), p.91-93

2011

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Japanese and North American European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

European journal of human genetics : EJHG, 2007-12, Vol.15 (12), p.1205-1210

2007

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A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1280-1286

2016

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

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.788-791

2013

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Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Nature reviews. Endocrinology, 2018-04, Vol.14 (4), p.229

2018

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The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome

Journal of human genetics, 2019-09, Vol.64 (9), p.937-943

2019

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Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1488-1498

2015

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Beckwith-Wiedemann syndrome

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

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

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

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

Clinical utility gene card for: Beckwith-Wiedemann Syndrome

Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

S3570 Beckwith-Wiedemann Syndrome: A Rare Presentation of Chronic Portal Vein Thrombosis with Cavernous Transformation Extending to the Superior Mesenteric Vein

Evidence for anticipation in Beckwith-Wiedemann syndrome

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply

Androgenetic biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes

Japanese and North American European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome

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

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations

The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)

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