Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers-Reference-Cited by-同舟云学术

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

Published:2020-09 Issue:9 Volume:22 Page:1524-1532
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Blatter Robert,Tschupp Benjamin,Aretz Stefan,Bernstein Inge,Colas Chrystelle,Evans D. Gareth,Genuardi Maurizio,Hes Frederik J.,Hüneburg Robert,Järvinen Heikki,Lalloo Fiona,Moeslein Gabriela,Renkonen-Sinisalo Laura,Resta Nicoletta,Spier Isabel,Varvara Dora,Vasen Hans,Latchford Andrew R.,Heinimann Karl^ORCID

Funder

Stiftung zur Krebsbekämpfung

Freiwillige Akademische Gesellschaft

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-0826-1.pdf

Reference23 articles.

1. Larsen Haidle J, Howe JR. Juvenile polyposis syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle, WA: University of Washington; 1993.

Cited by 55 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. SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline;The American Journal of Human Genetics;2024-09

2. Clinical and Molecular Characterization of SMAD4 Splicing Variants in Patients with Juvenile Polyposis Syndrome;International Journal of Molecular Sciences;2024-07-20

3. Ulcerative Colitis or Not? A Case of Dysplasia, Gastrointestinal Bleeding, and Juvenile Polyposis in a 27-Year-Old Man;ACG Case Reports Journal;2024-07

4. Studying the Effect of the Host Genetic Background of Juvenile Polyposis Development Using Collaborative Cross and Smad4 Knock-Out Mouse Models;International Journal of Molecular Sciences;2024-05-27

5. Large‐ and medium‐sized arterial aneurysms in two patients with SMAD4‐related juvenile polyposis syndrome;American Journal of Medical Genetics Part A;2024-05-16