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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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A supervised learning method for classifying methylation disorders

BMC bioinformatics, 2024-02, Vol.25 (1), p.66-66

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

Archives of endocrinology and metabolism, 2024-02, Vol.68, p.e220395

2024

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

Journal of cranio-maxillo-facial surgery, 2024-02

2024

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

Fetal and pediatric pathology, 2024-04, p.1-9

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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P369: Acute lymphocytic leukemia in a child with Beckwith Wiedemann syndrome: Coincidence or related to loss of CDKN1C function?

Genetics in Medicine Open, 2024, Vol.2, p.101263

2024

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

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

2024

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

JPRAS open, 2024, Vol.39, p.303-306

2024

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Polyhydramnios associated with rare genetic syndromes: two case reports

Journal of medical case reports, 2024-02, Vol.18 (1), p.97-97

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, 2024-04

2024

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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

Genes & development, 2024-03, Vol.38 (3-4), p.131

2024

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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, Vol.12, p.1334544-1334544

2024

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Livestock species as emerging models for genomic imprinting

Frontiers in cell and developmental biology, 2024-02, Vol.12 (1348036), p.1348036-1348036

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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Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters

BMJ case reports, 2024-03, Vol.17 (3)

2024

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Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors

Genes, 2024-02, Vol.15 (3), p.321

2024

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

A supervised learning method for classifying methylation disorders

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

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

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

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

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

P369: Acute lymphocytic leukemia in a child with Beckwith Wiedemann syndrome: Coincidence or related to loss of CDKN1C 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

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

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

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

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

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

Livestock species as emerging models for genomic imprinting

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

Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors

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