Literature DB >> 12116240

Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis.

Bettina Burger, Siegfried Uhlhaas, Elisabeth Mangold, Peter Propping, Waltraut Friedl, Dieter Jenne, Gerhard Dockter, Walter Back.   

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Year:  2002        PMID： 12116240     DOI： 10.1002/ajmg.10411

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  5 in total

Review 1.  Metabolic derivatives of alcohol and the molecular culprits of fibro-hepatocarcinogenesis: Allies or enemies?

Authors:  Alex Boye; Yu-Hong Zou; Yan Yang
Journal:  World J Gastroenterol       Date:  2016-01-07       Impact factor: 5.742

2.  High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Authors:  S Aretz; D Stienen; S Uhlhaas; M Stolte; M M Entius; S Loff; W Back; A Kaufmann; K-M Keller; S H Blaas; R Siebert; S Vogt; S Spranger; E Holinski-Feder; L Sunde; P Propping; W Friedl
Journal:  J Med Genet       Date:  2007-09-14       Impact factor: 6.318

3.  Polyps in children.

Authors:  Vincent R Adolph; Kathryn Bernabe
Journal:  Clin Colon Rectal Surg       Date:  2008-11

4.  Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.

Authors:  Lior Haim Katz; Rachel Gingold-Belfer; Shlomi Cohen; Elizabeth E Half; Elez Vainer; Shani Hegger; Ido Laish; Estela Derazne; Ilana Weintraub; Gili Reznick-Levi; Yael Goldberg; Zohar Levi
Journal:  Hered Cancer Clin Pract       Date:  2022-01-20       Impact factor: 2.857

Review 5.  Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Authors:  Nesrin Gariballa; Bassam R Ali
Journal:  Front Mol Biosci       Date:  2020-10-29
  5 in total

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