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2. 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]
3. 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]
4. 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]
5. 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]
6. Phenotypic characterisation of Caillot C; Saurin JC; Hervieu V; Faoucher M; Reversat J; Decullier E; Poncet G; Bailly S; Giraud S; Dupuis-Girod S J Med Genet; 2024 Jul; 61(8):734-740. PubMed ID: 38575304 [TBL] [Abstract][Full Text] [Related]
7. [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]
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. [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. 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]
11. 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]
12. 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]
13. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Gheewalla GM; Luther J; Das S; Kreher JB; Scimone ER; Wong AW; Lindsay ME; Lin AE Am J Med Genet A; 2022 Oct; 188(10):3084-3088. PubMed ID: 35869926 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. [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]
16. 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]
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. Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort. Pearson M; McGowan R; Greene P; Lam W; Miedzybrodzka Z; Berg J Eur J Hum Genet; 2024 Jun; 32(6):731-735. PubMed ID: 38627541 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]