219 related articles for article (PubMed ID: 32944796)
1. Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl.
Hashimoto Y; Yokoyama K; Kumagai H; Okada Y; Yamagata T
Clin J Gastroenterol; 2020 Dec; 13(6):1096-1101. PubMed ID: 32944796
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. JP-HHT phenotype in Danish patients with SMAD4 mutations.
Jelsig AM; Tørring PM; Kjeldsen AD; Qvist N; Bojesen A; Jensen UB; Andersen MK; Gerdes AM; Brusgaard K; Ousager LB
Clin Genet; 2016 Jul; 90(1):55-62. PubMed ID: 26572829
[TBL] [Abstract][Full Text] [Related]
4. The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.
O'Malley M; LaGuardia L; Kalady MF; Parambil J; Heald B; Eng C; Church J; Burke CA
Dis Colon Rectum; 2012 Aug; 55(8):886-92. PubMed ID: 22810475
[TBL] [Abstract][Full Text] [Related]
5. Combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation.
Chung AD; Mortelé KJ
Clin Imaging; 2019; 54():37-39. PubMed ID: 30521991
[TBL] [Abstract][Full Text] [Related]
6. Digital Clubbing in Hereditary Hemorrhagic Telangiectasia/Juvenile Polyposis Syndrome.
Mrzljak A; Popić J; Ožanić Bulić S
Acta Dermatovenerol Croat; 2021 Apr; 291(1):56-57. PubMed ID: 34477067
[TBL] [Abstract][Full Text] [Related]
7. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
Teekakirikul P; Milewicz DM; Miller DT; Lacro RV; Regalado ES; Rosales AM; Ryan DP; Toler TL; Lin AE
Am J Med Genet A; 2013 Jan; 161A(1):185-91. PubMed ID: 23239472
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. [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]
10. Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.
Schwenter F; Faughnan ME; Gradinger AB; Berk T; Gryfe R; Pollett A; Cohen Z; Gallinger S; Durno C
J Gastroenterol; 2012 Jul; 47(7):795-804. PubMed ID: 22331366
[TBL] [Abstract][Full Text] [Related]
11. Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.
Aagaard KS; Brusgaard K; Miceikaite I; Larsen MJ; Kjeldsen AD; Lester EB; Ousager LB; Tørring PM
Mol Genet Genomic Med; 2020 Nov; 8(11):e1498. PubMed ID: 33058509
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia.
Iyer NK; Burke CA; Leach BH; Parambil JG
Thorax; 2010 Aug; 65(8):745-6. PubMed ID: 20685751
[TBL] [Abstract][Full Text] [Related]
17. SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history.
Chang W; Renaut P; Pretorius C
BMJ Case Rep; 2020 Dec; 13(12):. PubMed ID: 33370972
[TBL] [Abstract][Full Text] [Related]
18. A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Kananazawa Y; Yamada T; Yamaguchi T; Saito Y; Kakinuma D; Masuda Y; Ando F; Ohashi R; Eguchi H; Okazaki Y; Ishida H; Yoshida H
Jpn J Clin Oncol; 2023 Mar; 53(3):275-279. PubMed ID: 36546711
[TBL] [Abstract][Full Text] [Related]
19. A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome.
Lin HC; Fiorino KN; Blick C; Anupindi SA
Clin Imaging; 2015; 39(2):321-4. PubMed ID: 25432397
[TBL] [Abstract][Full Text] [Related]
20. Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.
Gao XH; Li J; Zhao ZY; Xu XD; Du YQ; Yan HL; Liu LJ; Bai CG; Zhang W
BMC Gastroenterol; 2020 Jun; 20(1):167. PubMed ID: 32487124
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
