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Literature DB >> 20442441

Constitutional mismatch repair-deficiency syndrome.

Katharina Wimmer, Christian P Kratz.

Abstract

Entities: Disease

Mesh：

Year: 2010 PMID： 20442441 PMCID： PMC2864372 DOI： 10.3324/haematol.2009.021626

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

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23 in total

Review 1. The multifaceted mismatch-repair system.

Authors: Josef Jiricny
Journal: Nat Rev Mol Cell Biol Date: 2006-05 Impact factor: 94.444

2. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.

Authors: Darcy Whiteside; Ross McLeod; Gail Graham; Jamie L Steckley; Karen Booth; Martin J Somerville; Susan E Andrew
Journal: Cancer Res Date: 2002-01-15 Impact factor: 12.701

3. Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

Authors: John R Ostergaard; Lone Sunde; Henrik Okkels
Journal: Am J Med Genet A Date: 2005-12-01 Impact factor: 2.802

4. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.

Authors: J Etzler; A Peyrl; A Zatkova; H-U Schildhaus; A Ficek; S Merkelbach-Bruse; C P Kratz; A Attarbaschi; J A Hainfellner; S Yao; L Messiaen; I Slavc; K Wimmer
Journal: Hum Mutat Date: 2008-02 Impact factor: 4.878

5. Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia.

Authors: Hani Alotaibi; Marie D Ricciardone; Mehmet Ozturk
Journal: Mutat Res Date: 2007-08-09 Impact factor: 2.433

Review 6. Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

Authors: Nils Rahner; Gerald Höefler; Christoph Högenauer; Caroline Lackner; Verena Steinke; Marlies Sengteller; Waltraut Friedl; Stefan Aretz; Peter Propping; Elisabeth Mangold; Constanze Walldorf
Journal: Am J Med Genet A Date: 2008-05-15 Impact factor: 2.802

7. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

Authors: Jessie Auclair; Dominique Leroux; Françoise Desseigne; Christine Lasset; Jean Christophe Saurin; Marie Odile Joly; Stéphane Pinson; Xiao Li Xu; Gilles Montmain; Eric Ruano; Claudine Navarro; Alain Puisieux; Qing Wang
Journal: Hum Mutat Date: 2007-11 Impact factor: 4.878

8. Neurofibromatosis and early onset of cancers in hMLH1-deficient children.

Authors: Q Wang; C Lasset; F Desseigne; D Frappaz; C Bergeron; C Navarro; E Ruano; A Puisieux
Journal: Cancer Res Date: 1999-01-15 Impact factor: 12.701

9. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Authors: M D Ricciardone; T Ozçelik; B Cevher; H Ozdağ; M Tuncer; A Gürgey; O Uzunalimoğlu; H Cetinkaya; A Tanyeli; E Erken; M Oztürk
Journal: Cancer Res Date: 1999-01-15 Impact factor: 12.701

10. Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Authors: Qing Wang; Gilles Montmain; Eric Ruano; Meena Upadhyaya; Sandra Dudley; R Michael Liskay; Stephen N Thibodeau; Alain Puisieux
Journal: Hum Genet Date: 2002-11-21 Impact factor: 4.132

43 in total

1. Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.

Authors: A Kerpel; M Yalon; M Soudack; J Chiang; A Gajjar; K E Nichols; Z Patay; S Shrot; C Hoffmann
Journal: AJNR Am J Neuroradiol Date: 2020-04-30 Impact factor: 3.825

2. Lynch Syndrome in high risk Ashkenazi Jews in Israel.

Authors: Yael Goldberg; Inbal Kedar; Revital Kariiv; Naama Halpern; Morasha Plesser; Ayala Hubert; Luna Kaduri; Michal Sagi; Israela Lerer; Dvorah Abeliovich; Tamar Hamburger; Aviram Nissan; Hanoch Goldshmidt; Irit Solar; Ravit Geva; Hana Strul; Guy Rosner; Hagit Baris; Zohar Levi; Tamar Peretz
Journal: Fam Cancer Date: 2014-03 Impact factor: 2.375

3. Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.

Authors: Zandrè Bruwer; Ursula Algar; Alvera Vorster; Karen Fieggen; Alan Davidson; Paul Goldberg; Helen Wainwright; Rajkumar Ramesar
Journal: J Genet Couns Date: 2013-10-15 Impact factor: 2.537

4. PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.

Authors: Julia Vogt; Annekatrin Wernstedt; Tim Ripperger; Brigitte Pabst; Johannes Zschocke; Christian Kratz; Katharina Wimmer
Journal: Eur J Hum Genet Date: 2016-06-22 Impact factor: 4.246