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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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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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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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Continuous hypomethylation of the KCNQ1OT1:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2847-2850

2017

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Prevalence of beckwith-wiedemann syndrome in North West of Italy

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2481-2486

2013

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Beckwith–Wiedemann syndrome in diverse populations

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.525-533

2019

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Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.348-356

2023

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Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.88-93

2024

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Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3348-3351

2016

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Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1139-1147

2019

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Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1691-1702

2019

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Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3062-3067

2021

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Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1662-1669

2012

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Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith‐Wiedemann syndrome: A case report

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.1107-1110

2023

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Sleep‐disordered breathing in Beckwith–Wiedemann syndrome: Three patients

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2956-2958

2012

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Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1562-1567

2022

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Diffuse infantile hepatic hemangiomas in a patient with Beckwith–Wiedemann syndrome: A new association?

American journal of medical genetics. Part A, 2020-08, Vol.182 (8), p.1972-1976

2020

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Scope of hearing loss in Beckwith–Wiedemann syndrome and hemihypertrophy

American journal of medical genetics. Part A, 2019-11, Vol.179 (11), p.2307-2310

2019

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Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2740-2749

2016

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Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion

American journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.559-564

2016

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Aberrant methylation of H19‐DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith–Wiedemann syndrome

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1670-1675

2012

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Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.360-367

2017

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

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

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

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

Continuous hypomethylation of the KCNQ1OT1:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome

Prevalence of beckwith-wiedemann syndrome in North West of Italy

Beckwith–Wiedemann syndrome in diverse populations

Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping

Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations

Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome

Diagnosis and management of the phenotypic spectrum of twins with Beckwith‐Wiedemann syndrome

Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome

Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation

Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith‐Wiedemann syndrome: A case report

Sleep‐disordered breathing in Beckwith–Wiedemann syndrome: Three patients

Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications

Diffuse infantile hepatic hemangiomas in a patient with Beckwith–Wiedemann syndrome: A new association?

Scope of hearing loss in Beckwith–Wiedemann syndrome and hemihypertrophy

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion

Aberrant methylation of H19‐DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith–Wiedemann syndrome

Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan

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