Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*
- 1 October 2001
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 69 (4), 704-711
- https://doi.org/10.1086/323703
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- Comprehensive Analysis of SMAD4 Mutations and Protein Expression in Juvenile Polyposis: Evidence for a Distinct Genetic Pathway and Polyp Morphology in SMAD4 Mutation CarriersThe American Journal of Pathology, 2001
- Genetic Testing for Cancer PredispositionAnnual Review of Medicine, 2001
- Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley- Ruvalcaba syndrome without germline PTEN mutationsJournal of Medical Genetics, 2000
- Variant Manifestation of Cowden Disease in Japan: Hamartomatous Polyposis of the Digestive Tract with Mutation of the PTEN GeneAmerican Journal of Human Genetics, 1999
- Germline PTEN mutations in Cowden syndrome-like families.Journal of Medical Genetics, 1998
- Molecular Classification of the Inherited Hamartoma Polyposis Syndromes: Clearing the Muddied WatersAmerican Journal of Human Genetics, 1998
- Peutz-Jeghers syndrome is caused by mutations in a novel serine threoninekinaseNature Genetics, 1998
- Germline mutations in PTEN are present in Bannayan-Zonana syndromeNature Genetics, 1997
- Bannayan‐Riley‐Ruvalcaba syndromeAmerican Journal of Medical Genetics, 1992
- A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10Nature, 1987