Literature DB >> 18007577

Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation.

C P Kratz, C M Niemeyer, E Jüttner, M Kartal, A Weninger, A Schmitt-Graeff, U Kontny, M Lauten, S Utzolino, J Rädecke, C Fonatsch, K Wimmer.   

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Year:  2007        PMID： 18007577     DOI： 10.1038/sj.leu.2405008

Source DB:  PubMed          Journal:  Leukemia        ISSN： 0887-6924            Impact factor:   11.528


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  6 in total

1.  Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.

Authors:  Melyssa Aronson; Steven Gallinger; Zane Cohen; Shlomi Cohen; Rina Dvir; Ronit Elhasid; Hagit N Baris; Revital Kariv; Harriet Druker; Helen Chan; Simon C Ling; Paul Kortan; Spring Holter; Kara Semotiuk; David Malkin; Roula Farah; Alain Sayad; Brandie Heald; Matthew F Kalady; Lynette S Penney; Andrea L Rideout; Mohsin Rashid; Linda Hasadsri; Pavel Pichurin; Douglas Riegert-Johnson; Brittany Campbell; Doua Bakry; Hala Al-Rimawi; Qasim Kholaif Alharbi; Musa Alharbi; Ashraf Shamvil; Uri Tabori; Carol Durno
Journal:  Am J Gastroenterol       Date:  2016-01-05       Impact factor: 10.864

Review 2.  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

Review 3.  The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.

Authors:  Cristina Carrato; Carolina Sanz; Ana María Muñoz-Mármol; Ignacio Blanco; Marta Pineda; Jesús Del Valle; Estela Dámaso; Manel Esteller; Eva Musulen
Journal:  Int J Mol Sci       Date:  2021-04-28       Impact factor: 5.923

4.  Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

Authors:  P Vasovcak; A Krepelova; M Menigatti; A Puchmajerova; P Skapa; A Augustinakova; G Amann; A Wernstedt; J Jiricny; G Marra; K Wimmer
Journal:  DNA Repair (Amst)       Date:  2012-05-17

5.  Germline variants of DNA repair genes in early onset mantle cell lymphoma.

Authors:  Xiaogan Wang; Yuqin Song; Wei Chen; Ning Ding; Weiping Liu; Yan Xie; Yinan Wang; Jun Zhu; Changqing Zeng
Journal:  Oncogene       Date:  2020-11-15       Impact factor: 9.867

6.  Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.

Authors:  Sophie Péron; Ayse Metin; Pauline Gardès; Marie-Alexandra Alyanakian; Eamonn Sheridan; Christian Peter Kratz; Alain Fischer; Anne Durandy
Journal:  J Exp Med       Date:  2008-09-29       Impact factor: 14.307
  6 in total

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