Overlapping spectra ofSMAD4mutations in juvenile polyposis (JP) and JP-HHT syndrome-Reference-Cited by-同舟云学术

Overlapping spectra ofSMAD4mutations in juvenile polyposis (JP) and JP-HHT syndrome

Published:2010-02 Issue:2 Volume:152A Page:333-339
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gallione Carol,Aylsworth Arthur S.,Beis Jill,Berk Terri,Bernhardt Barbara,Clark Robin D.,Clericuzio Carol,Danesino Cesare,Drautz Joanne,Fahl Jeffrey,Fan Zheng,Faughnan Marie E.,Ganguly Arupa,Garvie John,Henderson Katharine,Kini Usha,Leedom Tracey,Ludman Mark,Lux Andreas,Maisenbacher Melissa,Mazzucco Sara,Olivieri Carla,Ploos van Amstel Johannes K.,Prigoda-Lee Nadia,Pyeritz Reed E.,Reardon Willie,Vandezande Kirk,Waldman J. Deane,White Robert I.,Williams Charles A.,Marchuk Douglas A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33206/fullpdf

Reference44 articles.

1. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome;Aretz;J Med Genet,2007

2. Generalized juvenile polyposis with pulmonary arteriovenous malformations and hypertrophic osteoarthropathy;Baert;Am J Roentgenol,1983

3. Hereditary hemorrhagic telangiectasia with juvenile polyposis-coincidence or linked autosomal dominant inheritance?;Ballauff;Z Gastroenterol,1999

4. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7;Bayrak-Toydemir;Am J Med Genet Part A,2006

5. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations;Bayrak-Toydemir;Am J Med Genet Part A,2006

Cited by 123 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. Shear Stress and Sub-Femtomolar Levels of Ligand Synergize to Activate ALK1 Signaling in Endothelial Cells;Cells;2024-02-05

2. SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome;Hereditary Cancer in Clinical Practice;2023-12-08

3. Shear stress and very low levels of ligand synergize to activate ALK1 signaling in endothelial cells;2023-11-03

4. Multi-organ hereditary hemorrhagic telangiectasia: A case report;World Journal of Clinical Cases;2023-10-06

5. ANG2 Blockade Diminishes Proangiogenic Cerebrovascular Defects Associated With Models of Hereditary Hemorrhagic Telangiectasia;Arteriosclerosis, Thrombosis, and Vascular Biology;2023-08