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

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

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

(2017) Alessandro Mussa et al.   PEDIATRICS

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

(2016) Jair Tenorio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2016) Jennifer M. Kalish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Fetal growth patterns in Beckwith-Wiedemann syndrome

(2016) A. Mussa et al.   CLINICAL GENETICS

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

(2016) Katja Eggermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

(2016) Alessandro Mussa et al.   European Journal of Medical Genetics

Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy

(2016) Maria Güemes et al.   Hormone Research in Paediatrics

Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome

(2016) Frederic Brioude et al.   Hormone Research in Paediatrics

Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11

(2016) Yasufumi Ohtsuka et al.   HUMAN MOLECULAR GENETICS

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

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome

(2016) Hsiang-Yu Lin et al.   MOLECULAR GENETICS AND METABOLISM

Is Nephron Sparing Surgery Justified in Wilms Tumor With Beckwith-Wiedemann Syndrome or Isolated Hemihypertrophy?

(2016) Aurélien Scalabre et al.   PEDIATRIC BLOOD & CANCER

Craniofacial disorders associated with airway obstruction in the neonate

(2016) Christopher M. Cielo et al.   Seminars in Fetal & Neonatal Medicine

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

(2016) Marta Sanchez-Delgado et al.   TRENDS IN GENETICS

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

(2016) Silvia Russo et al.   Clinical Epigenetics

Hyperinsulinemic Hypoglycemia – The Molecular Mechanisms

(2016) Azizun Nessa et al.   Frontiers in Endocrinology

A novel large deletion of the ICR1 region including H19 and putative enhancer elements

(2015) Helen Fryssira et al.   BMC Medical Genetics

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine

(2015) A. Mussa et al.   CLINICAL GENETICS

Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays

(2015) Weiqiang Liu et al.   CYTOGENETIC AND GENOME RESEARCH

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

(2015) Leda Paganini et al.   Epigenetics

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

(2015) Thomas Eggermann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

(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

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

(2015) Jennifer M Kalish et al.   JOURNAL OF MEDICAL GENETICS

Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome

(2015) Alessandro Mussa et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children

(2015) Paul S. Thornton et al.   JOURNAL OF PEDIATRICS

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

(2015) Karl Oliver Kagan et al.   PRENATAL DIAGNOSIS

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

(2015) Louise E. Docherty et al.   Nature Communications

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

(2015) Thomas Eggermann et al.   Clinical Epigenetics

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia

(2015) Klára Roženková et al.   Journal of Clinical Research in Pediatric Endocrinology

Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood

(2014) Mariëlle Alders et al.   European Journal of Medical Genetics

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

(2014) Toshiyuki Maeda et al.   GENETICS IN MEDICINE

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

(2014) Walid Abi Habib et al.   HUMAN MOLECULAR GENETICS

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

(2014) Louise E Docherty et al.   JOURNAL OF MEDICAL GENETICS

Hepatoblastoma in Children With Beckwith-Wiedemann Syndrome

(2014) Angela D. Trobaugh-Lotrario et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Vesicoureteric reflux and reflux nephropathy: from mouse models to childhood disease

(2014) Marie-Lyne Fillion et al.   PEDIATRIC NEPHROLOGY

α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes

(2014) Alessandro Mussa et al.   PEDIATRIC RESEARCH

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

(2014) Abdulla Ibrahim et al.   Clinical Epigenetics

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

(2013) Rebecca L. Poole et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

(2013) Jennifer M. Kalish et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Weaver syndrome andEZH2mutations: Clarifying the clinical phenotype

(2013) Katrina Tatton-Brown et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-wide androgenetic mosaicism

(2013) J.P. Johnson et al.   CLINICAL GENETICS

A novelde novopoint mutation of the OCT-binding site in theIGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient

(2013) K. Higashimoto et al.   CLINICAL GENETICS

Large offspring syndrome

(2013) Zhiyuan Chen et al.   Epigenetics

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p

(2013) Fiorella Gurrieri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Looking for CDKN1C enhancers

(2013) Flavia Cerrato et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evidence for anticipation in Beckwith–Wiedemann syndrome

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

SNP arrays in Beckwith–Wiedemann syndrome: An improved diagnostic strategy

(2013) Boris Keren et al.   European Journal of Medical Genetics

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

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

(2013) Berivan Baskin et al.   HUMAN GENETICS

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

(2013) Louise Tee et al.   Clinical Epigenetics

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

(2012) Michal Inbar-Feigenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Brain abnormalities in patients with Beckwith-Wiedemann syndrome

(2012) Kate Gardiner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving theKCNQ1gene

(2012) S Kaltenbach et al.   CLINICAL GENETICS

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

(2012) Magdalena Gogiel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

(2012) Jasmin Beygo et al.   HUMAN MOLECULAR GENETICS

Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique

(2012) A.A.C. Heggie et al.   INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Different methylation patterns in BWS/SRS cases clarified by MS-MLPA

(2012) Mihaela Lukova et al.   MOLECULAR BIOLOGY REPORTS

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

(2012) Marjorie J Lindhurst et al.   NATURE GENETICS

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

(2012) Dewi Astuti et al.   NATURE GENETICS

The epidemiology of hepatoblastoma

(2012) Logan G. Spector et al.   PEDIATRIC BLOOD & CANCER

Genetic Causes of Macroglossia: Diagnostic Approach

(2012) C. E. Prada et al.   PEDIATRICS

Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome

(2012) U. A. Nayeri et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Psychosocial, Feeding, and Drooling Outcomes in Children with Beckwith Wiedemann Syndrome following Tongue Reduction Surgery

(2011) C. Shipster et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

An atypical case of hypomethylation at multiple imprinted loci

(2011) Emma L Baple et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

(2011) Rebecca L Poole et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2011) Valeria Romanelli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2011) Nicoletta Chiesa et al.   HUMAN MOLECULAR GENETICS

Surgical treatment of macroglossia in patients with Beckwith–Wiedemann syndrome: a 20-year experience and review of the literature

(2011) D.J.M. Kadouch et al.   INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

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

(2011) Alessandro Mussa et al.   PEDIATRIC NEPHROLOGY

An 11p15 Imprinting Centre Region 2 Deletion in a Family with Beckwith Wiedemann Syndrome Provides Insights into Imprinting Control at CDKN1C

(2011) Elizabeth Algar et al.   PLoS One

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

(2010) Valérie Malan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Beckwith-Wiedemann syndrome

(2010) Sanaa Choufani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

(2010) Margaret Elliott et al.   CLINICAL GENETICS

Surgical epiphysiodesis indications and techniques: update

(2010) Ismat Ghanem et al.   CURRENT OPINION IN PEDIATRICS

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

(2010) Salah Azzi et al.   HUMAN MUTATION

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

(2010) V. Romanelli et al.   JOURNAL OF MEDICAL GENETICS

In Vitro Fertilization and Embryo Culture Strongly Impact the Placental Transcriptome in the Mouse Model

(2010) Patricia Fauque et al.   PLoS One

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol

(2009) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

(2009) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Beckwith–Wiedemann syndrome

(2009) Rosanna Weksberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

(2009) J. Bliek et al.   European Journal of Medical Genetics

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

(2009) Salah Azzi et al.   HUMAN MOLECULAR GENETICS

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

(2009) Julie Demars et al.   HUMAN MOLECULAR GENETICS

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

(2009) M. Zollino et al.   JOURNAL OF MEDICAL GENETICS

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

(2009) Laura Cardarelli et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith–Wiedemann Syndrome (BWS) Patients

(2009) V. Romanelli et al.   PLACENTA

Outcome of fetuses with a prenatal ultrasound diagnosis of isolated omphalocele

(2009) Amina Porter et al.   PRENATAL DIAGNOSIS

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

(2009) Esther Meyer et al.   PLoS Genetics

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

Beckwith Weidemann syndrome: A behavioral phenotype-genotype study

(2008) Lindsey Kent et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Genetic testing and tumor surveillance for children with cancer predisposition syndromes

(2008) Aarati Rao et al.   CURRENT OPINION IN PEDIATRICS

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

(2008) Manuela Priolo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) Jet Bliek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

(2008) D. Lim et al.   HUMAN REPRODUCTION

Epigenotype, Phenotype, and Tumors in Patients with Isolated Hemihyperplasia

(2008) Jet Bliek et al.   JOURNAL OF PEDIATRICS