BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

237 related articles for article (PubMed ID: 33058509)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. [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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.
    Lee ST; Kim JA; Jang SY; Kim DK; Do YS; Suh GY; Kim JW; Ki CS
    J Korean Med Sci; 2009 Feb; 24(1):69-76. PubMed ID: 19270816
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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]  

  • 16. Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital.
    Karlsson T; Cherif H
    Ups J Med Sci; 2018 Sep; 123(3):153-157. PubMed ID: 30251589
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
    Gallione C; Aylsworth AS; Beis J; Berk T; Bernhardt B; Clark RD; Clericuzio C; Danesino C; Drautz J; Fahl J; Fan Z; Faughnan ME; Ganguly A; Garvie J; Henderson K; Kini U; Leedom T; Ludman M; Lux A; Maisenbacher M; Mazzucco S; Olivieri C; Ploos van Amstel JK; Prigoda-Lee N; Pyeritz RE; Reardon W; Vandezande K; Waldman JD; White RI; Williams CA; Marchuk DA
    Am J Med Genet A; 2010 Feb; 152A(2):333-9. PubMed ID: 20101697
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm.
    Inoguchi Y; Kaku B; Kitagawa N; Katsuda S
    Intern Med; 2019 Feb; 58(3):387-393. PubMed ID: 30210120
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.