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Items: 1 to 20 of 83

1.
2.

High-grade brain tumors in siblings with biallelic MSH6 mutations.

Ilencikova D, Sejnova D, Jindrova J, Babal P.

Pediatr Blood Cancer. 2011 Dec 1;57(6):1067-70. doi: 10.1002/pbc.23217. Epub 2011 Jun 14.

PMID:
21674763
3.

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

Wimmer K, Etzler J.

Hum Genet. 2008 Sep;124(2):105-22. doi: 10.1007/s00439-008-0542-4. Epub 2008 Aug 18. Review.

PMID:
18709565
4.

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.

Kratz CP, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer CM, Gallinger S, Wimmer K.

J Med Genet. 2009 Jun;46(6):418-20. doi: 10.1136/jmg.2008.064212. Epub 2009 Mar 16.

PMID:
19293170
5.

A homozygous mutation in MSH6 causes Turcot syndrome.

Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS.

Clin Cancer Res. 2005 Jul 1;11(13):4689-93.

6.

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

Plaschke J, Linnebacher M, Kloor M, Gebert J, Cremer FW, Tinschert S, Aust DE, von Knebel Doeberitz M, Schackert HK.

Eur J Hum Genet. 2006 May;14(5):561-6.

7.

Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.

Leenen CH, Geurts-Giele WR, Dubbink HJ, Reddingius R, van den Ouweland AM, Tops CM, van de Klift HM, Kuipers EJ, van Leerdam ME, Dinjens WN, Wagner A.

Clin Genet. 2011 Dec;80(6):558-65. doi: 10.1111/j.1399-0004.2010.01608.x. Epub 2011 Jan 13.

PMID:
21204794
8.

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernstedt A, Krabichler B, Strasser U, Nyström M, Zschocke J, Robertson SP, van Haelst MM, Wimmer K.

Eur J Hum Genet. 2013 Jan;21(1):55-61. doi: 10.1038/ejhg.2012.117. Epub 2012 Jun 13.

9.

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).

Vasen HF, Ghorbanoghli Z, Bourdeaut F, Cabaret O, Caron O, Duval A, Entz-Werle N, Goldberg Y, Ilencikova D, Kratz CP, Lavoine N, Loeffen J, Menko FH, Muleris M, Sebille G, Colas C, Burkhardt B, Brugieres L, Wimmer K; EU-Consortium Care for CMMR-D (C4CMMR-D).

J Med Genet. 2014 May;51(5):283-93. doi: 10.1136/jmedgenet-2013-102238. Epub 2014 Feb 20.

PMID:
24556086
10.

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

Rahner N, Höefler G, Högenauer C, Lackner C, Steinke V, Sengteller M, Friedl W, Aretz S, Propping P, Mangold E, Walldorf C.

Am J Med Genet A. 2008 May 15;146A(10):1314-9. doi: 10.1002/ajmg.a.32210. Review.

PMID:
18409202
11.

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

Jasperson KW, Samowitz WS, Burt RW.

Clin Genet. 2011 Oct;80(4):394-7. doi: 10.1111/j.1399-0004.2010.01543.x. Epub 2010 Oct 6.

PMID:
21039432
12.

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.

Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK.

Eur J Hum Genet. 2008 Jan;16(1):62-72. Epub 2007 Sep 12.

13.

Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.

Durno CA, Sherman PM, Aronson M, Malkin D, Hawkins C, Bakry D, Bouffet E, Gallinger S, Pollett A, Campbell B, Tabori U; International BMMRD Consortium.

Eur J Cancer. 2015 May;51(8):977-83. doi: 10.1016/j.ejca.2015.02.008. Epub 2015 Apr 13. Review.

PMID:
25883011
14.

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

Chmara M, Wernstedt A, Wasag B, Peeters H, Renard M, Beert E, Brems H, Giner T, Bieber I, Hamm H, Sciot R, Wimmer K, Legius E.

Genes Chromosomes Cancer. 2013 Jul;52(7):656-64. doi: 10.1002/gcc.22061. Epub 2013 Apr 30.

PMID:
23629955
15.

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.

Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ.

Fam Cancer. 2004;3(2):123-7.

PMID:
15340263
16.

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

Trimbath JD, Petersen GM, Erdman SH, Ferre M, Luce MC, Giardiello FM.

Fam Cancer. 2001;1(2):101-5.

PMID:
14574005
17.

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.

Ripperger T, Beger C, Rahner N, Sykora KW, Bockmeyer CL, Lehmann U, Kreipe HH, Schlegelberger B.

Haematologica. 2010 May;95(5):841-4. doi: 10.3324/haematol.2009.015503. Epub 2009 Dec 16. Review.

18.

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

Ostergaard JR, Sunde L, Okkels H.

Am J Med Genet A. 2005 Dec 1;139A(2):96-105; discussion 96.

PMID:
16283678
19.

Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1.

Yeung JT, Pollack IF, Shah S, Jaffe R, Nikiforova M, Jakacki RI.

Pediatr Blood Cancer. 2013 Jan;60(1):137-9. doi: 10.1002/pbc.24254. Epub 2012 Jul 27.

PMID:
22848017
20.

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

Auclair J, Leroux D, Desseigne F, Lasset C, Saurin JC, Joly MO, Pinson S, Xu XL, Montmain G, Ruano E, Navarro C, Puisieux A, Wang Q.

Hum Mutat. 2007 Nov;28(11):1084-90.

PMID:
17557300

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