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

Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): clinical and molecular correlations in 94 individuals

(2021) Jessica A. Radley et al.   CLINICAL GENETICS

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C

(2021) Angela Sparago et al.   Genes

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

(2021) Kelly A. Duffy et al.   Genes

Epigenetic mosaicism and cell burden in Beckwith–Wiedemann syndrome due to loss of methylation at imprinting control region 2

(2021) Kelly A. Duffy et al.   Cold Spring Harbor Molecular Case Studies

Genetic Modifiers and Rare Mendelian Disease

(2020) K. M. Tahsin Hassan Rahit et al.   Genes

Diagnosis and Management of Beckwith-Wiedemann Syndrome

(2020) Kathleen H. Wang et al.   Frontiers in Pediatrics

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

(2020) Sümeyye Cöktü et al.   BRITISH JOURNAL OF CANCER

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome

(2020) Samuel W Baker et al.   JOURNAL OF MEDICAL GENETICS

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

(2019) Kelly A. Duffy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

(2019) Dorota Jurkiewicz et al.   CLINICAL DYSMORPHOLOGY

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

(2018) Frédéric Brioude et al.   Nature Reviews Endocrinology

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

(2017) Jack Brzezinski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Adverse Intrauterine Environment and Cardiac miRNA Expression

(2017) Mitchell Lock et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population

(2017) Ho Ming Luk   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

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

(2016) Saskia M. Maas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

(2016) Alessandro Mussa et al.   JOURNAL OF PEDIATRICS

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

(2016) Susanne Eriksen Boonen et al.   Clinical Epigenetics

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

(2015) Alessandro Mussa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations of the ImprintedCDKN1CGene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

(2015) Frederic Brioude et al.   HUMAN MUTATION

CDKN1C mutations: two sides of the same coin

(2014) Thomas Eggermann et al.   TRENDS IN MOLECULAR MEDICINE

Evidence for anticipation in Beckwith–Wiedemann syndrome

(2013) Siren Berland et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome

(2013) Hitomi Yatsuki et al.   Genes & Genomics

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

(2013) F. Brioude et al.   Hormone Research in Paediatrics

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

(2011) Alessandro Mussa et al.   PEDIATRIC NEPHROLOGY

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

(2010) Valeria Romanelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

(2010) Margaret Elliott et al.   CLINICAL GENETICS

p57KIP2: "Kip"ing the Cell under Control

(2009) I. S. Pateras et al.   MOLECULAR CANCER RESEARCH

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

(2008) Kimberly J. Greer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A