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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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Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith‐Wiedemann syndrome

Prenatal diagnosis, 2021-06, Vol.41 (7), p.798-816

2021

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Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome

Prenatal diagnosis, 2021-06, Vol.41 (7), p.817-822

2021

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Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.457-465

2013

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New genetic and clinical evidence associated with fetal Beckwith–Wiedemann syndrome

Prenatal diagnosis, 2021-06, Vol.41 (7), p.823-827

2021

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Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

Journal of medical genetics, 2021-12, Vol.58 (12), p.842

2021

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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

Human molecular genetics, 2012-01, Vol.21 (1), p.10-25

2012

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Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome

Journal of pediatric hematology/oncology, 2020-11, Vol.42 (8), p.e798

2020

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Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome

Taiwanese journal of obstetrics & gynecology, 2016-12, Vol.55 (6), p.877-880

2016

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Glioblastoma in Beckwith-Wiedemann syndrome: first case report and review of potential pathomechanisms

Acta neurochirurgica, 2022-02, Vol.164 (2), p.419-422

2022

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Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

American journal of human genetics, 2003-01, Vol.72 (1), p.156-160

2003

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Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization

Journal of clinical oncology, 2022-06, Vol.40 (17), p.1892-1902

2022

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Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome

Prenatal diagnosis, 2015-04, Vol.35 (4), p.394-399

2015

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Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith–Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer

Taiwanese journal of obstetrics & gynecology, 2014-03, Vol.53 (1), p.90-94

2014

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Cutaneous Mucinosis Associated with Beckwith-Wiedemann Syndrome

Skinmed, 2020, Vol.18 (1), p.42-44

2020

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The epidemiology of hepatoblastoma

Pediatric blood & cancer, 2012-11, Vol.59 (5), p.776-779

2012

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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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Beckwith-Wiedemann syndrome in adults: Observations from one family and recommendations for care

American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1707-1712

2008

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Association of four imprinting disorders and ART

Clinical epigenetics, 2019-02, Vol.11 (1), p.21-21, Article 21

2019

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First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome

Taiwanese journal of obstetrics & gynecology, 2022-01, Vol.61 (1), p.174-179

2022

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Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

European journal of medical genetics, 2018-09, Vol.61 (9), p.499-507

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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New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

Human mutation, 2011-10, Vol.32 (10), p.1171-1182

2011

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Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population

Genes, 2021-11, Vol.12 (11), p.1839

2021

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Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

BMC medical genomics, 2019-06, Vol.12 (1), p.83-83, Article 83

2019

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

Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith‐Wiedemann syndrome

Prenatal molecular testing and diagnosis of Beckwith‐Wiedemann syndrome

Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance

New genetic and clinical evidence associated with fetal Beckwith–Wiedemann syndrome

Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome

Prenatal diagnosis of paternal duplication of 11p15.5→14.3: Its implication of Beckwith–Wiedemann syndrome

Glioblastoma in Beckwith-Wiedemann syndrome: first case report and review of potential pathomechanisms

Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization

Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome

Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith–Wiedemann syndrome in a pregnancy conceived by intracytoplasmic sperm injection and in vitro fertilization and embryo transfer

Cutaneous Mucinosis Associated with Beckwith-Wiedemann Syndrome

The epidemiology of hepatoblastoma

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

Beckwith-Wiedemann syndrome in adults: Observations from one family and recommendations for care

Association of four imprinting disorders and ART

First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

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

New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

Characteristics Associated with Tumor Development in Individuals Diagnosed with Beckwith-Wiedemann Spectrum: Novel Tumor-(epi)Genotype-Phenotype Associations in the BWSp Population

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report

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