Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome-Reference-Cited by-同舟云学术

Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome

Published:2019-07-24 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:

Gazzin Andrea¹^ORCID,Carli Diana¹^ORCID,Sirchia Fabio²,Molinatto Cristina¹,Cardaropoli Simona¹,Palumbo Giuseppe³,Zampino Giuseppe⁴,Ferrero Giovanni Battista¹,Mussa Alessandro¹^ORCID

Affiliation:

1. Department of Public Health and PediatricsUniversity of Torino Torino Italy

2. Institute for Maternal Child Health IRCCS “Burlo Garofolo” Trieste Italy

3. Department of HaematologyBambino Gesù Hospital Rome Italy

4. Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of PediatricsFondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica del Sacro Cuore Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61301

Reference39 articles.

1. Dominant inheritance of Wiedemann‐Beckwith syndrome: Further evidence for transmission of “unstable premutation” through carrier women;Aleck K. A.;American Journal of Medical Genetics,1989

2. Successful laparoscopic operation of bilateral pheochromocytoma in a patient with Beckwith‐Wiedemann syndrome;Bémurat L.;Journal of Human Hypertension,2002

3. Genome‐wide paternal uniparental disomy as a cause of Beckwith‐Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors;Bertoin F.;Hormone and Metabolic Research = Hormon‐ und Stoffwechselforschung = Hormones et métabolisme,2015

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

5. Hypercortisolism due to a pituitary adenoma associated with Beckwith‐Wiedemann syndrome;Brioude F.;Hormone Research in Pædiatrics,2016

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood;The Journal of Pediatrics;2024-11

2. Expanded phenotype and cancer risk in patients with Beckwith–Wiedemann spectrum caused by CDKN1C variants;American Journal of Medical Genetics Part A;2024-06

3. Major surgical conditions of childhood and their lifelong implications: comprehensive review;BJS Open;2024-05-08

4. The Role of One-Carbon Metabolism and Methyl Donors in Medically Assisted Reproduction: A Narrative Review of the Literature;International Journal of Molecular Sciences;2024-05-02

5. Molecular landscape of congenital vertebral malformations: recent discoveries and future directions;Orphanet Journal of Rare Diseases;2024-01-30