Literature DB >> 9326924

A human compound heterozygote for two MLH1 missense mutations.

P Hackman, P Tannergård, S Osei-Mensa, J Chen, M F Kane, R Kolodner, B Lambert, D Hellgren, A Lindblom.   

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Year:  1997        PMID： 9326924     DOI： 10.1038/ng1097-135

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  10 in total

1.  Maternal effect for DNA mismatch repair in the mouse.

Authors:  Vanessa E Gurtu; Shelly Verma; Allie H Grossmann; R Michael Liskay; William C Skarnes; Sean M Baker
Journal:  Genetics       Date:  2002-01       Impact factor: 4.562

2.  MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations.

Authors:  Alejandro Giraldo; Andrea Gómez; Gustavo Salguero; Herbert García; Fabio Aristizábal; Oscar Gutiérrez; Luis Alberto Angel; Jorge Padrón; Carlos Martínez; Humberto Martínez; Omar Malaver; Luis Flórez; Rosa Barvo
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

Review 3.  Genetic susceptibility to non-polyposis colorectal cancer.

Authors:  H T Lynch; A de la Chapelle
Journal:  J Med Genet       Date:  1999-11       Impact factor: 6.318

4.  Analysis of aneuploidy frequencies in sperm from patients with hereditary nonpolyposis colon cancer and an hMSH2 mutation.

Authors:  R H Martin; J Green; E Ko; L Barclay; A W Rademaker
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

5.  Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.

Authors:  Lisa Bush; Melyssa Aronson; Uri Tabori; Brittany B Campbell; Raymond B Bedgood; Kory Jasperson
Journal:  Fam Cancer       Date:  2019-01       Impact factor: 2.375

Review 6.  Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Authors:  Katharina Wimmer; Julia Etzler
Journal:  Hum Genet       Date:  2008-08-18       Impact factor: 4.132

7.  Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Authors:  Aaron R Ellison; Joan Lofing; Grant A Bitter
Journal:  Nucleic Acids Res       Date:  2004-10-08       Impact factor: 16.971

8.  The extracolonic cancer spectrum in females with the common 'South African' hMLH1 c.C1528T mutation.

Authors:  Maria M Blokhuis; Paul A Goldberg; G Elize Pietersen; Ursula Algar; A Alvera Vorster; Dhiren Govender; Raj S Ramesar
Journal:  Fam Cancer       Date:  2007-11-30       Impact factor: 2.375

9.  Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum.

Authors:  Rein P Stulp; Johanna C Herkert; Arend Karrenbeld; Bart Mol; Yvonne J Vos; Rolf H Sijmons
Journal:  Hered Cancer Clin Pract       Date:  2008-02-15       Impact factor: 2.857

10.  Bacteria-related changes in host DNA methylation and the risk for CRC.

Authors:  Iradj Sobhani; Hugo Rotkopf; Khashayarsha Khazaie
Journal:  Gut Microbes       Date:  2020-11-09
  10 in total

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