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Items: 1 to 20 of 96

1.

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.

De Rosa M, Fasano C, Panariello L, Scarano MI, Belli G, Iannelli A, Ciciliano F, Izzo P.

Oncogene. 2000 Mar 23;19(13):1719-23.

2.

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

Agostini M, Tibiletti MG, Lucci-Cordisco E, Chiaravalli A, Morreau H, Furlan D, Boccuto L, Pucciarelli S, Capella C, Boiocchi M, Viel A.

Am J Gastroenterol. 2005 Aug;100(8):1886-91.

PMID:
16144131
3.

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
4.

Mechanisms underlying mismatch repair deficiencies in normal cells.

Moliaka YK, Cella M, Chudina AP, Kolesnikova TN, Terracciano L, Cathomas G, Bochkov NP, Buerstedde JM.

Genes Chromosomes Cancer. 1997 Nov;20(3):305-9.

PMID:
9365839
5.

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
6.

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.

Johannesma PC, van der Klift HM, van Grieken NC, Troost D, Te Riele H, Jacobs MA, Postma TJ, Heideman DA, Tops CM, Wijnen JT, Menko FH.

Clin Genet. 2011 Sep;80(3):243-55. doi: 10.1111/j.1399-0004.2011.01635.x. Epub 2011 Feb 20.

PMID:
21261604
7.

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.

8.

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD.

J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17.

PMID:
25691505
9.

Enhanced intestinal adenomatous polyp formation in Pms2-/-;Min mice.

Baker SM, Harris AC, Tsao JL, Flath TJ, Bronner CE, Gordon M, Shibata D, Liskay RM.

Cancer Res. 1998 Mar 15;58(6):1087-9.

10.

Microsatellite instability and mutation of DNA mismatch repair genes in gliomas.

Leung SY, Chan TL, Chung LP, Chan AS, Fan YW, Hung KN, Kwong WK, Ho JW, Yuen ST.

Am J Pathol. 1998 Oct;153(4):1181-8.

11.

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Herkert JC, Niessen RC, Olderode-Berends MJ, Veenstra-Knol HE, Vos YJ, van der Klift HM, Scheenstra R, Tops CM, Karrenbeld A, Peters FT, Hofstra RM, Kleibeuker JH, Sijmons RH.

Eur J Cancer. 2011 May;47(7):965-82. doi: 10.1016/j.ejca.2011.01.013. Epub 2011 Mar 4. Review.

PMID:
21376568
12.

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

Will O, Carvajal-Carmona LG, Gorman P, Howarth KM, Jones AM, Polanco-Echeverry GM, Chinaleong JA, Günther T, Silver A, Clark SK, Tomlinson I.

Gastroenterology. 2007 Feb;132(2):527-30. Epub 2006 Nov 29.

PMID:
17258725
13.

Polymorphisms in a pseudogene highly homologous to PMS2.

Chadwick RB, Meek JE, Prior TW, Peltomaki P, de La Chapelle A.

Hum Mutat. 2000 Dec;16(6):530.

PMID:
11102987
14.

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

Aronson M, Gallinger S, Cohen Z, Cohen S, Dvir R, Elhasid R, Baris HN, Kariv R, Druker H, Chan H, Ling SC, Kortan P, Holter S, Semotiuk K, Malkin D, Farah R, Sayad A, Heald B, Kalady MF, Penney LS, Rideout AL, Rashid M, Hasadsri L, Pichurin P, Riegert-Johnson D, Campbell B, Bakry D, Al-Rimawi H, Alharbi QK, Alharbi M, Shamvil A, Tabori U, Durno C.

Am J Gastroenterol. 2016 Feb;111(2):275-84. doi: 10.1038/ajg.2015.392. Epub 2016 Jan 5.

PMID:
26729549
15.

Clinicopathologic and genetic features of nonfamilial colorectal carcinomas with DNA replication errors.

Senba S, Konishi F, Okamoto T, Kashiwagi H, Kanazawa K, Miyaki M, Konishi M, Tsukamoto T.

Cancer. 1998 Jan 15;82(2):279-85.

PMID:
9445183
16.

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

De Vos M, Hayward BE, Picton S, Sheridan E, Bonthron DT.

Am J Hum Genet. 2004 May;74(5):954-64. Epub 2004 Apr 7.

17.

Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

Walter AW, Ennis S, Best H, Vaughn CP, Swensen JJ, Openshaw A, Gripp KW.

Pediatr Blood Cancer. 2013 Nov;60(11):E135-6. doi: 10.1002/pbc.24613. Epub 2013 Jun 1.

PMID:
23729388
18.

Replication error in colorectal carcinoma: association with loss of heterozygosity at mismatch repair loci and clinicopathological variables.

Johannsdottir JT, Bergthorsson JT, Gretarsdottir S, Kristjansson AK, Ragnarsson G, Jonasson JG, Egilsson V, Ingvarsson S.

Anticancer Res. 1999 May-Jun;19(3A):1821-6.

PMID:
10470121
19.

Chromosomal instability and p53 inactivation are required for genesis of glioblastoma but not for colorectal cancer in patients with germline mismatch repair gene mutation.

Leung SY, Yuen ST, Chan TL, Chan AS, Ho JW, Kwan K, Fan YW, Hung KN, Chung LP, Wyllie AH.

Oncogene. 2000 Aug 17;19(35):4079-83.

20.

Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas.

Isidro G, Laranjeira F, Pires A, Leite J, Regateiro F, Castro e Sousa F, Soares J, Castro C, Giria J, Brito MJ, Medeira A, Teixeira R, Morna H, Gaspar I, Marinho C, Jorge R, Brehm A, Ramos JS, Boavida MG.

Hum Mutat. 2004 Oct;24(4):353-4.

PMID:
15366000

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