A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)
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- 1 March 2004
- journal article
- Published by Elsevier in The Lancet
- Vol. 363 (9412) , 852-859
- https://doi.org/10.1016/s0140-6736(04)15732-2
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st centuryPostgraduate Medical Journal, 2003
- Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposisAmerican Journal of Medical Genetics, 2002
- Involvement of the p38 Mitogen-activated Protein Kinase Pathway in Transforming Growth Factor-β-induced Gene ExpressionPublished by Elsevier ,1999
- A survey of phenotypic features in juvenile polyposis.Journal of Medical Genetics, 1998
- Mutations in the SMAD4/DPC4 Gene in Juvenile PolyposisScience, 1998
- Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2Nature Genetics, 1996
- Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1Nature Genetics, 1994
- Colonic hamartomatous polyposis associated with hypertrophic osteoarthropathyPediatric Radiology, 1994
- Association of Juvenile and Adenomatous Polyposis with Pulmonary Arteriovenous Malformation and Hypertrophic OsteoarthropathyJournal of Pediatric Gastroenterology and Nutrition, 1990
- Juvenile polyposis–a precancerous conditionHistopathology, 1988