Beckwith–Wiedemann syndrome in diverse populations-Reference-Cited by-同舟云学术

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Beckwith–Wiedemann syndrome in diverse populations

Published:2019-02-04 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Duffy Kelly A.¹,Sajorda Brian J.¹,Yu Alice C.¹,Hathaway Evan R.¹,Grand Katheryn L.¹^ORCID,Deardorff Matthew A.¹²,Kalish Jennifer M.¹²³^ORCID

Affiliation:

1. Division of Human GeneticsChildren's Hospital of Philadelphia Philadelphia Pennsylvania

2. Department of PediatricsPerelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania

3. Center for Childhood Cancer ResearchChildren's Hospital of Philadelphia Philadelphia Pennsylvania

Funder

Alex's Lemonade Stand Foundation for Childhood Cancer

National Cancer Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61053

Reference32 articles.

1. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith‐Wiedemann syndrome: An international consensus statement;Brioude F.;Nature Reviews. Endocrinology,2018

2. Beckwith‐Wiedemann syndrome: Growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance;Brioude F.;Hormone Research in Paediatrics,2013

3. Frequency of anomalies and hospital outcomes in infants with gastroschisis and omphalocele;Corey K. M.;Early Human Development,2014

4. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith‐Wiedemann syndrome with cancer and birth defects;DeBaun M. R.;American Journal of Human Genetics,2002

5. Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinemic hypoglycemia;Flanagan S. E.;Front Endocrinol (Lausanne),2011

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1. Surgical approach to a rare case of Beckwith Wiedemann syndrome with left thigh hyperplasia;JPRAS Open;2023-12

2. Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?;Genes, Chromosomes and Cancer;2023-08-02

3. The future of commercial genetic testing;Current Opinion in Pediatrics;2023-05-23

4. Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development;Cancers;2023-01-26

5. Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith–Wiedemann Syndrome;Annals of Laboratory Medicine;2022-11-01

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