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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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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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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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Beckwith–Wiedemann syndrome and Chiari I malformation—a case-based review of central nervous system involvement in hemihypertrophy syndromes

Child's nervous system, 2015-05, Vol.31 (5), p.637-641

2015

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Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives

Journal of genetic counseling, 2018-08, Vol.27 (4), p.844-853

2018

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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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Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

Pediatric nephrology (Berlin, West), 2012-03, Vol.27 (3), p.397-406

2012

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Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

Journal of assisted reproduction and genetics, 2018-06, Vol.35 (6), p.985-992

2018

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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Clinical epigenetics, 2020-09, Vol.12 (1), p.139, Article 139

2020

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Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature

Surgical case reports, 2024-03, Vol.10 (1), p.69-69

2024

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A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

Molecular cytogenetics, 2021-03, Vol.14 (1), p.14-14, Article 14

2021

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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

Clinical epigenetics, 2016-03, Vol.8 (23), p.23-23, Article 23

2016

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Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains

Clinical epigenetics, 2021-02, Vol.13 (1), p.30-30, Article 30

2021

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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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Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

Indian journal of pediatrics, 2020-03, Vol.87 (3), p.175-178

2020

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Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

European journal of pediatrics, 2011-11, Vol.170 (11), p.1407-1411

2011

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Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Clinical epigenetics, 2019-03, Vol.11 (1), p.53-53, Article 53

2019

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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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Spinal adrenal cortical adenoma associated with Beckwith-Wiedemann syndrome: case report and review of the literature

Child's nervous system, 2017-06, Vol.33 (6), p.1009-1013

2017

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Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study

Italian journal of pediatrics, 2020-04, Vol.46 (1), p.55-55, Article 55

2020

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Unilateral testicular enlargement in a teenager with Beckwith-Wiedemann syndrome: a case report

Italian journal of pediatrics, 2019-07, Vol.45 (1), p.79-79, Article 79

2019

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Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome

Indian journal of pediatrics, 2016-11, Vol.83 (12-13), p.1476-1478

2016

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

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

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

Beckwith–Wiedemann syndrome and Chiari I malformation—a case-based review of central nervous system involvement in hemihypertrophy syndromes

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives

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

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains

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

Association of four imprinting disorders and ART

Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

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

Spinal adrenal cortical adenoma associated with Beckwith-Wiedemann syndrome: case report and review of the literature

Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study

Unilateral testicular enlargement in a teenager with Beckwith-Wiedemann syndrome: a case report

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome

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