These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. [Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation]. Jelsig AM; Tørring PM; Wikman F; Mortensen MB; Qvist N; Ousager LB Ugeskr Laeger; 2014 Oct; 176(44):. PubMed ID: 25354002 [TBL] [Abstract][Full Text] [Related]
6. Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. Wain KE; Ellingson MS; McDonald J; Gammon A; Roberts M; Pichurin P; Winship I; Riegert-Johnson DL; Weitzel JN; Lindor NM Genet Med; 2014 Aug; 16(8):588-93. PubMed ID: 24525918 [TBL] [Abstract][Full Text] [Related]
7. [A young man with intestinal polyposis and epistaxis]. Menko FH; Jacobs MA; Mager JJ; Nicolaï JJ; Mensenkamp AR; Aalfs CM Ned Tijdschr Geneeskd; 2014; 158():A7398. PubMed ID: 25269631 [TBL] [Abstract][Full Text] [Related]
8. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. Aretz S; Stienen D; Uhlhaas S; Stolte M; Entius MM; Loff S; Back W; Kaufmann A; Keller KM; Blaas SH; Siebert R; Vogt S; Spranger S; Holinski-Feder E; Sunde L; Propping P; Friedl W J Med Genet; 2007 Nov; 44(11):702-9. PubMed ID: 17873119 [TBL] [Abstract][Full Text] [Related]
9. Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. Heald B; Rigelsky C; Moran R; LaGuardia L; O'Malley M; Burke CA; Zahka K Am J Med Genet A; 2015 Aug; 167A(8):1758-62. PubMed ID: 25931195 [TBL] [Abstract][Full Text] [Related]
10. SMAD4 mutation and the combined juvenile polyposis and hereditary hemorrhage telangiectasia syndrome: a single center experience. McDonald NM; Ramos GP; Sweetser S Int J Colorectal Dis; 2020 Oct; 35(10):1963-1965. PubMed ID: 32556653 [TBL] [Abstract][Full Text] [Related]
11. [A case of combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with SMAD4 mutation]. Sumitomo Y; Yamashita Y; Itai R; Ono H; Yamada S; Matsumoto Y; Kimura Y; Ikeda E; Takada M; Mikami S Nihon Shokakibyo Gakkai Zasshi; 2013 Jan; 110(1):64-73. PubMed ID: 23303231 [TBL] [Abstract][Full Text] [Related]
12. Genotype-defined cancer risk in juvenile polyposis syndrome. Aytac E; Sulu B; Heald B; O'Malley M; LaGuardia L; Remzi FH; Kalady MF; Burke CA; Church JM Br J Surg; 2015 Jan; 102(1):114-8. PubMed ID: 25389115 [TBL] [Abstract][Full Text] [Related]
13. Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation. de Leon MP; Pedroni M; Viel A; Luppi C; Conigliaro R; Domati F; Rossi G; Bonetti LR Fam Cancer; 2019 Apr; 18(2):165-172. PubMed ID: 30196345 [TBL] [Abstract][Full Text] [Related]