Associated Papers
Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.
Liu Q et al.
Bmc Medical Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
BMPR1A mutations in juvenile polyposis affect cellular localization.
Howe JR et al.
The Journal of Surgical Research, 2013
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
Calva-Cerqueira D et al.
Clinical Genetics, 2009
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
Howe JR et al.
Journal of Medical Genetics, 2004
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
Sayed MG et al.
Annals of Surgical Oncology, 2002
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
Zhou XP et al.
American Journal of Human Genetics, 2001
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