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

International journal of molecular sciences, 2024-04, Vol.25 (7), p.3586

2024

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

Children (Basel), 2024-03, Vol.11 (3), p.342

2024

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

Plastic and reconstructive surgery. Global open, 2024-03, Vol.12 (3), p.e5635

2024

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

International journal of surgery case reports, 2024-06, Vol.119, p.109777, Article 109777

2024

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Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith–Wiedemann Syndrome

Annals of laboratory medicine, 2022-11, p.668-677

2022

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

Clinical and experimental otorhinolaryngology, 2023-02, p.67-74

2023

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Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome

Journal of pathology and translational medicine, 2019-03, p.129-135

2019

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

Genes & genomics, 2013-04, p.141-147

2013

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

Frontiers in pediatrics, 2024-03, Vol.12, p.1334544

2024

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Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum

Autopsy & case reports, 2024, Vol.14, p.e2024486

2024

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

Prenatal diagnosis, 2024-05, Vol.44 (5), p.586-594

2024

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

Annals of human genetics, 2024-05

2024

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Approach to the Neonate with Hypoglycemia

The journal of clinical endocrinology and metabolism, 2024-04

2024

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Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report

World journal of clinical cases, 2024-03, Vol.12 (8), p.1517-1522

Kaya, Işın

2024

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Huge mesenchymal hamartoma in a young adult: a case report

Journal of surgical case reports, 2024-04, Vol.2024 (4), p.rjae184

2024

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Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation

Genes, 2024-05, Vol.15 (5), p.641

2024

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Review of Opsoclonus-Myoclonus Ataxia Syndrome in Pediatric Patients

Children (Basel), 2024-03, Vol.11 (3), p.367

2024

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The Role of Telemedicine in Children with Obstructive Sleep Apnea Syndrome (OSAS): A Review of the Literature

Journal of clinical medicine, 2024-04, Vol.13 (7), p.2108

2024

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The Outcomes of Preterm Infants with Neonatal Respiratory Distress Syndrome Treated by Minimally Invasive Surfactant Therapy and Non-Invasive Ventilation

Biomedicines, 2024-04, Vol.12 (4), p.838

2024

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Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study

Pediatric surgery international, 2024-05, Vol.40 (1), p.136-136

2024

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Current prospects of hereditary adrenal tumors: towards better clinical management

Hereditary cancer in clinical practice, 2024-03, Vol.22 (1), p.4-4

2024

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The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know

Children (Basel), 2024-05, Vol.11 (5), p.578

2024

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Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

Journal of clinical medicine, 2024-05, Vol.13 (9), p.2544

2024

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Amnioreduction for Polyhydramnios in a Consecutive Series at a Single Center: Indications, Risks and Perinatal Outcomes

Children (Basel), 2024-04, Vol.11 (4), p.502

2024

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

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

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

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

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

Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith–Wiedemann Syndrome

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

Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome

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

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

Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum

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

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

Approach to the Neonate with Hypoglycemia

Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report

Huge mesenchymal hamartoma in a young adult: a case report

Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation

Review of Opsoclonus-Myoclonus Ataxia Syndrome in Pediatric Patients

The Role of Telemedicine in Children with Obstructive Sleep Apnea Syndrome (OSAS): A Review of the Literature

The Outcomes of Preterm Infants with Neonatal Respiratory Distress Syndrome Treated by Minimally Invasive Surfactant Therapy and Non-Invasive Ventilation

Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study

Current prospects of hereditary adrenal tumors: towards better clinical management

The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know

Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

Amnioreduction for Polyhydramnios in a Consecutive Series at a Single Center: Indications, Risks and Perinatal Outcomes

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