Disease: Beckwith-Wiedemann syndrome
- (Epi)genotype and Timing of Tongue Reduction Predict Safety and Long-Term Outcomes in Beckwith-Wiedemann Syndrome
- <sup>18</sup>F-DOPA PET/MRI With Carbidopa for the Diagnosis of Hyperinsulinemic Hypoglycemia in an Adolescent Patient
- 11p15 Epimutations in Pediatric Embryonic Tumors: Insights from a Methylome Analysis
- A maternal-effect <em>Padi6</em> variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos
- A Novel Macroglossia Severity Index for Beckwith-Wiedemann Syndrome
- A rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome
- A supervised learning method for classifying methylation disorders
- Adrenocortical tumors in children: Sri Lankan experience from a single center, and a mini review
- Adult experiences in Beckwith-Wiedemann syndrome
- Application of Original Therapy for Stimulation of Oral Areas Innervated by the Trigeminal Nerve in a Child with Beckwith-Wiedemann Syndrome
- Associations between the timing of tongue reduction surgery, (Epi)genotype, and dentoskeletal development in patients with Beckwith-Wiedemann syndrome
- Beckwith-Widemann Macroglossia: The Role of Surgical Tongue Reduction
- Beckwith-Wiedemann Syndrome
- Beckwith-Wiedemann syndrome
- Beckwith-Wiedemann Syndrome
- Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature
- Beckwith-Wiedemann syndrome in a child with multifocal Wilms tumor and lateralized overgrowth: A case report
- 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 <em>CDKN1C</em> Typical Pathogenic Genetic Variation
- 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
- Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening
- Beckwith-Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature
- Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations
- Beckwith-Wiedemann Syndrome With Severe Relapsing Hypoglycemia After the Neonatal Period: A Case Report and a Literature Review
- Cancer predisposition signaling in Beckwith-Wiedemann Syndrome drives Wilms tumor development
- Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
- Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum
- Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer
- Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
- Comprehensive review of the timing of surgical management of macroglossia in Beckwith-Wiedemann syndrome
- Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome
- Cutaneous and hepatic infantile haemangiomas as a clinical manifestation of Beckwith Wiedemann syndrome
- Dentoskeletal features and growth pattern in Beckwith-Wiedemann spectrum: is surgical tongue reduction always necessary?
- Depression and Anxiety in Pediatric Patients with Beckwith-Wiedemann Syndrome: A Pilot Study
- Development of disease-specific growth charts for Korean children with Beckwith-Wiedemann syndrome
- DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility
- Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines
- Effective Collaboration in the Surgical Management of Macroglossia in Beckwith-Wiedemann Syndrome
- Epigenetics and genetics of hepatoblastoma: Linkage and treatment
- Evaluation of keyhole-pattern reduction glossoplasty for macroglossia in beckwith-wiedemann syndrome: A multidimensional analysis of postoperative course and outcomes
- Expanded phenotype and cancer risk in patients with Beckwith-Wiedemann spectrum caused by CDKN1C variants
- Fetal Wilm's tumor detection preceding the development of isolated lateralized overgrowth of the limb: a case report and review of literature
- First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome
- First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions
- FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extending the Endocrine Manifestations of Birt-Hogg-Dube Syndrome
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia
- Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
- GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
- Human IGF2 Gene Epigenetic and Transcriptional Regulation: At the Core of Developmental Growth and Tumorigenic Behavior
- Identification of differentially methylated regions in rare diseases from a single-patient perspective
- Implications of an Underlying Beckwith-Wiedemann Syndrome for Wilms Tumor Treatment Strategies
- Imprinting disorders
- Imprinting disorders in children conceived with assisted reproductive technology in Sweden
- Introduction to the Beckwith-Wiedemann Syndrome and Cancer Special Issue
- Investigation of a pervasive immune, cardiac, and behavioral phenotype in Beckwith-Wiedemann syndrome: A case report
- Joint effects of CD8A and ICOS in Long QT Syndrome (LQTS) and Beckwith-Wiedemann Syndrome (BWS)
- Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons
- Locus-Specific and Stable DNA Demethylation at the <em>H19</em>/<em>IGF2</em> ICR1 by Epigenome Editing Using a dCas9-SunTag System and the Catalytic Domain of TET1
- Management of Macroglossia Secondary to Beckwith-Weidmann Syndrome in a Pediatric Patient: A Case Report
- Mesothelial Inclusion Cyst in an Infant with Beckwith-Weidemann Syndrome
- Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
- Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells
- Multiple Fractures in an Infant With Hepatoblastoma and Beckwith-Wiedemann Syndrome
- NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing
- Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias
- Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp)
- Omphalocele
- Omphalocele
- Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population-based assessment in seven million children
- Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
- Perioperative Management of a Pediatric Patient with Beckwith-Wiedemann Syndrome Undergoing a Partial Glossectomy According to Egyedi/Obwegeser
- Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review
- Placental Mesenchymal Dysplasia and Beckwith-Wiedemann Syndrome
- Placental Mesenchymal Dysplasia Associated with Severe Intrauterine Growth Restriction: A Case Report
- Polyhydramnios associated with rare genetic syndromes: two case reports
- Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes
- Prenatal Diagnosis of Beckwith-Wiedemann Syndrome with Omphalocele
- Preneoplastic liver colonization by 11p15.5 altered mosaic cells in young children with hepatoblastoma
- Preterm with Macroglossia and Persistent Hypoglycemia - Beckwith-Wiedemann Syndrome
- Prevalence of Beckwith Wiedemann Syndrome and Risk of Embryonal Tumors in Children Born with Omphalocele
- Psychiatric Disorder in a Patient With Beckwith-Wiedemann Syndrome: A Case Report
- Recurrent Hypoglycemia Secondary to Insulinoma in an Adult With Beckwith-Wiedemann Syndrome
- Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?
- Single-nucleus multiomic analysis of Beckwith-Wiedemann syndrome liver reveals PPARA signaling enrichment and metabolic dysfunction
- Structure-Function Analysis of p57KIP2 in the Human Pancreatic Beta Cell Reveals a Bipartite Nuclear Localization Signal
- Successful noninvasive ventilation in a child with Beckwith-Wiedemann syndrome and obstructive sleep apnea
- Surgical approach to a rare case of Beckwith Wiedemann syndrome with left thigh hyperplasia
- Syndromic forms of congenital hyperinsulinism
- TANDEM TRIPLICATION 11p15.5-ICR1 (H19/IGF2) DETECTED BY ARRAY AND OPTICAL GENOME MAPPING IN A PRENATAL BECWITH-WIEDEMANN CASE
- Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case
- The counterpart congenital overgrowth syndromes Beckwith-Wiedemann Syndrome in human and large offspring syndrome in bovine involve alterations in DNA methylation, transcription, and chromatin configuration
- The role of pediatric oncologist in prenatal diagnosis: A 10-year retrospective study at Assistance Publique HĂ´pitaux de Marseille (AP-HM)
- Therapeutic potential of natural antisense transcripts and various mechanisms involved for clinical applications and disease prevention
- Tongue and Mandibular Disorders of the Pediatric Patient
- Trends in Blood Mosaicism and Clinical Phenotype Score in Patients with Beckwith-Wiedemann Syndrome Evaluated for Tongue Reduction Surgery
- Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum
- Turner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outcome
- Type 1 Diabetes in a Pediatric Patient With Beckwith-Wiedemann Syndrome
- Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders
- Unusual Presentation of Beckwith-Wiedemann Syndrome in an Extremely Low Birth Weight Infant
- Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum