Patient-Reported Speech Outcomes in Patients with Beckwith-Wiedemann Syndrome.

The Identification of Beckwith-Wiedemann Syndrome Through Swap Disentangled Variational Autoencoder.

Cancer predisposition syndromes: an imaging review.

Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.

Determinants of Hyperinsulinism Severity in Children with Beckwith-Wiedemann Syndrome.

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype.

Methylation profile characteristics in the H19/IGF2:IG-DMR revealed by long-read sequencing analysis in patients with Beckwith-Wiedemann syndrome having defects in the OCT4/SOX2 binding site.

A Case of Familial CDKN1C-Related Beckwith-Wiedemann Syndrome.

Germline and somatic mutations in histologically atypical congenital hyperinsulinism.

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype Correlation.

Clinical management of bilateral functional adrenal adenomas.

Patient-Reported Psychosocial Outcomes in Patients with Beckwith-Wiedemann Syndrome.

18 F-FDG PET/CT Demonstrates Left Adrenal Neuroblastoma in a Pediatric Patient With Beckwith-Wiedemann Syndrome.

Case Report: Beckwith-Wiedemann syndrome with reduced H19 expression.

Beckwith-Wiedemann syndrome and large offspring syndrome involve alterations in methylome, transcriptome, and chromatin configuration.

Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score.

The influence of fetal sex on maternal blood pressure in pregnancy.

Imprinting Disorders and Epigenetic Alterations in Children Conceived by Assisted Reproductive Technologies: Mechanisms, Clinical Outcomes, and Prenatal Diagnosis.

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

Evolution of discrepancies in limb asymmetry in Beckwith-Wiedemann spectrum.

Bilateral Adrenal Mass Secondary to Bilateral Infantile Neuroblastoma in an Infant With Beckwith-Wiedemann Syndrome.

Continuous subcutaneous octreotide infusion in congenital hyperinsulinism: practical application and insights in infancy and early childhood.

Breast Findings in Females With Beckwith-Wiedemann Syndrome.

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.

Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances.

Characterization of placental pathology in Beckwith-Wiedemann Syndrome due to alterations in the KCNQ1OT1:TSS-DMR region.

(Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China.

Concurrent Prolapsed Omphalocele and Giant Hepatic Cyst Initially Suspected as an Umbilical Cord Cyst in the Prenatal Period: A Case Report.

Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.

A Comparison of Surgical Techniques for Macroglossia in Beckwith-Wiedemann Syndrome.

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

Prenatal Diagnosis of Placental Mesenchymal Dysplasia and Its Association with Hepatic Mesenchymal Hamartoma in Beckwith-Wiedemann Syndrome: A Case Report.

[Beckwith-Wiedemann syndrome with ganglioneuroblastoma: a case report].

Persistent hyperinsulinemic hypoglycemia of infancy treated at the Hospital Infantil de Especialidades de Chihuahua.

Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.

Partial Glossectomy in a 2-month-old Infant with Beckwith-Wiedemann Syndrome - A Case Report.

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.

[Application of whole exome sequencing for the diagnosis of early-onset genetic diseases among infants aged 0 ~ 6 months].

Upper Extremity Manifestations of Beckwith-Wiedemann Syndrome: A Unique Case Presentation and Management of a Pediatric Patient Over 9 Years.

Generation of human-induced pluripotent stem cells from a patient with Beckwith-Wiedemann syndrome.

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.

Renal MRI radiomics in Beckwith-Wiedemann syndrome: a novel imaging approach for genotype identification.

Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy.

Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith-Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region.

Management of Congenital Macroglossia Due to Lymphatic Malformation in a Child with Review of Literature.

Maternal Cell-Free DNA Analysis in a Fetus Affected by Beckwith-Wiedemann Syndrome: Potential for Prenatal Diagnosis.

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women.

Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith-Wiedemann syndrome.

Placental Mesenchymal Dysplasia With Normal Placental Growth Factor Levels Complicated by Fetal Giant Liver Cyst and Anemia.

Porous perspectives: a comprehensive review of medullary sponge kidney.

Diagnosis and Management of Natal Tooth Secondary to Beckwith-Wiedemann Syndrome in a 25-day-old Infant: A Rare Case Report.

Growth Charts for Children With Beckwith-Wiedemann Spectrum.

Oncocytic Tumors in the Familial and Syndromic Contexts: A Tri-Focal Review - Integrated Cytopathological, Pathological, and Molecular Perspectives.

Hepatoblastoma: From Molecular Mechanisms to Therapeutic Strategies.

Beckwith-Wiedemann syndrome with Hirschsprung's disease and Meckel's diverticulum.

Single-nucleus multiomic analysis of Beckwith-Wiedemann syndrome liver reveals PPARA signaling enrichment and metabolic dysfunction.

Observed hepatic dysfunction following diazoxide administration in a neonate with liver impairment: A case report.

Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome.

Conservative Management of Macroglossia in Beckwith-Wiedemann Syndrome.

Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation.

Mesenchymal dysplasia of the placenta: a rare entity and important differential diagnosis. Presentation of a case with placentomegaly.

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Placental mesenchymal dysplasia in a monochorionic-diamniotic twin pregnancy complicated with hydrops fetalis-with a review of literature.

Postprandial Hypoglycemia in a Patient With Clinical Beckwith-Wiedemann Syndrome.

Outcomes of Tongue Reduction Surgery in Beckwith-Wiedemann Syndrome: A Systematic Review.

Dysmorphic syndromes with overgrowth - systematic review.  Part 1 - monogenic syndromes.

Congenital hyperinsulinism in the Ukraine: a 10-year national study.

Infant With Beckwith-Wiedemann Requiring Transplant for Hepatic Mesenchymal Hamartoma.

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.

Non-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.

Identification of responsible sequences which mutations cause maternal H19-ICR hypermethylation with Beckwith-Wiedemann syndrome-like overgrowth.

Placental Mesenchymal Dysplasia with Unique Chromosomal Abnormality and Unusual Histopathology: A Case Report and Literature Review.

Adrenocortical tumors and hereditary syndromes.

Role of Nasopharyngeal Airway in Management of Craniofacial Syndrome-Associated Upper Airway Obstruction in Children.

Genome-wide screening reveals essential roles for HOX genes and imprinted genes during caudal neurogenesis of human embryonic stem cells.

Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations.

Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.

Hiding in Plain Sight: Radiologic and Pathologic Findings Can Identify Beckwith-Wiedemann Syndrome in Patients With Wilms Tumor.

Bridging the Gaps: Multidisciplinary and Dental Strategies for Beckwith-Wiedemann Syndrome Management.

The molecular genetics of adrenal cushing.

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.

Update on Surveillance for Wilms Tumor and Hepatoblastoma in Beckwith-Wiedemann Syndrome and Other Predisposition Syndromes.

Cognitive, Social, and Emotional-Behavioral Outcomes in Children and Adolescents With Beckwith-Wiedemann Syndrome.

The Peripheral Reduction With Keyhole Tongue Reduction Technique for Macroglossia in Beckwith-Wiedemann Syndrome.

18F-DOPA PET/MRI With Carbidopa for the Diagnosis of Hyperinsulinemic Hypoglycemia in an Adolescent Patient.

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.

Type 1 Diabetes in a Pediatric Patient With Beckwith-Wiedemann Syndrome.

Prenatal Diagnosis of Beckwith-Wiedemann Syndrome with Omphalocele.

Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.

First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome.

Successful noninvasive ventilation in a child with Beckwith-Wiedemann syndrome and obstructive sleep apnea.

Unusual Presentation of Beckwith-Wiedemann Syndrome in an Extremely Low Birth Weight Infant.

Joint effects of CD8A and ICOS in Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS).

Imprinting disorders in children conceived with assisted reproductive technology in Sweden.

Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants.

A rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome.

GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.

Beckwith-Wiedemann Syndrome With Severe Relapsing Hypoglycemia After the Neonatal Period: A Case Report and a Literature Review.

NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing.

A Novel Macroglossia Severity Index for Beckwith-Wiedemann Syndrome.

Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.

Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias.

Fetal Wilm's tumor detection preceding the development of isolated lateralized overgrowth of the limb: a case report and review of literature.

Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes.

Depression and Anxiety in Pediatric Patients with Beckwith-Wiedemann Syndrome: A Pilot Study.

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

Trends in Blood Mosaicism and Clinical Phenotype Score in Patients with Beckwith-Wiedemann Syndrome Evaluated for Tongue Reduction Surgery.

Effective Collaboration in the Surgical Management of Macroglossia in Beckwith-Wiedemann Syndrome.

A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos.

Evaluation of keyhole-pattern reduction glossoplasty for macroglossia in beckwith-wiedemann syndrome: A multidimensional analysis of postoperative course and outcomes.

Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening.

Surgical approach to a rare case of Beckwith Wiedemann syndrome with left thigh hyperplasia.

Polyhydramnios associated with rare genetic syndromes: two case reports.

A supervised learning method for classifying methylation disorders.

Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.

Beckwith-Wiedemann Syndrome Diagnosed in the Early Second Trimester in Two Fetuses with Isolated Omphalocele.

Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome.

Locus-Specific and Stable DNA Demethylation at the H19/IGF2 ICR1 by Epigenome Editing Using a dCas9-SunTag System and the Catalytic Domain of TET1.

Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.

DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility.

Structure-Function Analysis of p57KIP2 in the Human Pancreatic Beta Cell Reveals a Bipartite Nuclear Localization Signal.

Cancer predisposition signaling in Beckwith-Wiedemann Syndrome drives Wilms tumor development.

Therapeutic potential of natural antisense transcripts and various mechanisms involved for clinical applications and disease prevention.

Comprehensive review of the timing of surgical management of macroglossia in Beckwith-Wiedemann syndrome.

Tongue and Mandibular Disorders of the Pediatric Patient.

Management of Macroglossia Secondary to Beckwith-Weidmann Syndrome in a Pediatric Patient: A Case Report.

Preneoplastic liver colonization by 11p15.5 altered mosaic cells in young children with hepatoblastoma.

Recurrent Hypoglycemia Secondary to Insulinoma in an Adult With Beckwith-Wiedemann Syndrome.

Multiple Fractures in an Infant With Hepatoblastoma and Beckwith-Wiedemann Syndrome.

Introduction to the Beckwith-Wiedemann Syndrome and Cancer Special Issue.

(Epi)genotype and Timing of Tongue Reduction Predict Safety and Long-Term Outcomes in Beckwith-Wiedemann Syndrome.

Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population-based assessment in seven million children.

Perioperative Management of a Pediatric Patient with Beckwith-Wiedemann Syndrome Undergoing a Partial Glossectomy According to Egyedi/Obwegeser.

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.

11p15 Epimutations in Pediatric Embryonic Tumors: Insights from a Methylome Analysis.

Beckwith-Wiedemann Syndrome in Newborn of Mother with HELLP Syndrome/Preeclampsia: An Analysis of Literature and Case Report with Fetal Growth Restriction and Absence of CDKN1C Typical Pathogenic Genetic Variation.

Cutaneous and hepatic infantile haemangiomas as a clinical manifestation of Beckwith Wiedemann syndrome.

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

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

Placental Mesenchymal Dysplasia Associated with Severe Intrauterine Growth Restriction: A Case Report.

The role of pediatric oncologist in prenatal diagnosis: A 10-year retrospective study at Assistance Publique Hôpitaux de Marseille (AP-HM).

Associations between the timing of tongue reduction surgery, (Epi)genotype, and dentoskeletal development in patients with Beckwith-Wiedemann syndrome.

Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders.

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.

Beckwith-Wiedemann syndrome in a child with multifocal Wilms tumor and lateralized overgrowth: A case report.

First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.

Psychiatric Disorder in a Patient With Beckwith-Wiedemann Syndrome: A Case Report.

Beckwith-Wiedemann syndrome.

Human IGF2 Gene Epigenetic and Transcriptional Regulation: At the Core of Developmental Growth and Tumorigenic Behavior.

Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case.

Prevalence of Beckwith Wiedemann Syndrome and Risk of Embryonal Tumors in Children Born with Omphalocele.

Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith-Wiedemann Syndrome.

Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp).

Adult experiences in Beckwith-Wiedemann syndrome.

Dentoskeletal features and growth pattern in Beckwith-Wiedemann spectrum: is surgical tongue reduction always necessary?

Syndromic forms of congenital hyperinsulinism.

Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer.

Adrenocortical tumors in children: Sri Lankan experience from a single center, and a mini review.

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

CDKN1C -Related Beckwith-Wiedemann Syndrome: First Patient from India.

Mesothelial Inclusion Cyst in an Infant with Beckwith-Weidemann Syndrome.

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.

Implications of an Underlying Beckwith-Wiedemann Syndrome for Wilms Tumor Treatment Strategies.

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.

Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome.

FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extending the Endocrine Manifestations of Birt-Hogg-Dubé Syndrome.

Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons.

[Preterm with Macroglossia and Persistent Hypoglycemia - Beckwith-Wiedemann Syndrome].

Beckwith-Widemann Macroglossia: The Role of Surgical Tongue Reduction.

Turner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outcome.

Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.

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

Epigenetics and genetics of hepatoblastoma: Linkage and treatment.

Identification of differentially methylated regions in rare diseases from a single-patient perspective.

Placental Mesenchymal Dysplasia and Beckwith-Wiedemann Syndrome.

Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.

Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Tongue Reduction Surgery Improves Mandibular Prognathism in Beckwith-Wiedemann Syndrome Without Compromising Tongue Function.

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

Metastatic Phyllodes Tumor in a Patient With Beckwith-Wiedemann Syndrome.

Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports.

Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Oral Health-Related Quality of Life among Children and Adolescents with Beckwith-Wiedemann Syndrome in Northern Italy.

Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.

Partial Glossectomy Combined With Radiofrequency Ablation for Macroglossia in Beckwith-Wiedemann Syndrome.

Thick Placenta in Pregnancy: A Review.

Survey on experiences and attitudes of parents toward disclosing information to children with genetic syndromes and their siblings in Japan.

[Tumor predisposition syndromes and nephroblastoma : Early diagnosis with imaging].

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.