-
1
-
-
38949121593
-
DNA repair dysfunction in gastrointestinal tract cancers
-
DOI 10.1111/j.1349-7006.2007.00671.x
-
Maehara Y, Egashira A, Oki E, et al. DNA repair dysfunction in gastrointestinal tract cancers. Cancer Sci 2008;99:451-458. (Pubitemid 351228560)
-
(2008)
Cancer Science
, vol.29
, Issue.3
, pp. 451-458
-
-
Maehara, Y.1
Egashira, A.2
Oki, E.3
Kakeji, Y.4
Tsuzuki, T.5
-
2
-
-
34249723181
-
Constitutive deficiency in DNA mismatch repair
-
DOI 10.1111/j.1399-0004.2007.00803.x
-
Felton KE, Gilchrist DM, Andrew SE. Constitutive deficiency in DNA mismatch repair. Clin Genet 2007;71:483-498. (Pubitemid 46838526)
-
(2007)
Clinical Genetics
, vol.71
, Issue.6
, pp. 483-498
-
-
Felton, K.E.A.1
Gilchrist, D.M.2
Andrew, S.E.3
-
3
-
-
34249738616
-
Constitutive deficiency in DNA mismatch repair: Is it time for Lynch III?
-
Felton KE, Gilchrist DM, Andrew SE. Constitutive deficiency in DNA mismatch repair: Is it time for Lynch III? Clin Genet 2007;71:499-500.
-
(2007)
Clin Genet
, vol.71
, pp. 499-500
-
-
Felton, K.E.1
Gilchrist, D.M.2
Andrew, S.E.3
-
4
-
-
50649111364
-
Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg?
-
Wimmer K, Etzler J. Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg? Hum Genet 2008;124:105-122.
-
(2008)
Hum Genet
, vol.124
, pp. 105-122
-
-
Wimmer, K.1
Etzler, J.2
-
5
-
-
0345222475
-
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1
-
Ricciardone MD, Ozcelik T, Cevher B, et al. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res 1999;59:290-293. (Pubitemid 29048854)
-
(1999)
Cancer Research
, vol.59
, Issue.2
, pp. 290-293
-
-
Ricciardone, M.D.1
Ozcelik, T.2
Cevher, B.3
Ozdag, H.4
Tuncer, M.5
Gurgey, A.6
Uzunalimoglu, O.7
Cetinkaya, H.8
Tanyeli, A.9
Erken, E.10
Ozturk, M.11
-
6
-
-
0033556009
-
Neurofibromatosis and early onset of cancers in hMLH1-deficient children
-
Wang Q, Lasset C, Desseigne F, et al. Neurofibromatosis and early onset of cancers in hMLH1-deficient children. Cancer Res 1999;59:294-297.
-
(1999)
Cancer Res
, vol.59
, pp. 294-297
-
-
Wang, Q.1
Lasset, C.2
Desseigne, F.3
-
7
-
-
0037083484
-
Immunohistochemistry versus microsatellite instability testing in phenotyping coloreetal tumors
-
DOI 10.1200/JCO.20.4.1043
-
Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20:1043-1048. (Pubitemid 34141849)
-
(2002)
Journal of Clinical Oncology
, vol.20
, Issue.4
, pp. 1043-1048
-
-
Lindor, N.M.1
Burgart, L.J.2
Leontovich, O.3
Goldberg, R.M.4
Cunningham, J.M.5
Sargent, D.J.6
Walsh-Vockley, C.7
Petersen, G.M.8
Walsh, M.D.9
Leggett, B.A.10
Young, J.P.11
Barker, M.A.12
Jass, J.R.13
Hopper, J.14
Gallinger, S.15
Bapat, B.16
Redston, M.17
Thibodeau, S.N.18
-
8
-
-
48549099663
-
The clinical phenotype of Lynch syndrome because of germ-line PMS2 mutations
-
Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome because of germ-line PMS2 mutations. Gastroenterology 2008;135:419-428.
-
(2008)
Gastroenterology
, vol.135
, pp. 419-428
-
-
Senter, L.1
Clendenning, M.2
Sotamaa, K.3
-
9
-
-
10744228073
-
Gastrointestinal Cancers and Neurofibromatosis Type 1 Features in Children with a Germline Homozygous MLH1 Mutation
-
DOI 10.1053/j.gastro.2003.11.008
-
Gallinger S, Aronson M, Shayan K, et al. Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology 2004;126:576-585. (Pubitemid 38182314)
-
(2004)
Gastroenterology
, vol.126
, Issue.2
, pp. 576-585
-
-
Gallinger, S.1
Aronson, M.2
Shayan, K.3
Ratcliffe, E.M.4
Gerstle, J.T.5
Parkin, P.C.6
Rothenmund, H.7
Croitoru, M.8
Baumann, E.9
Durie, P.R.10
Weksberg, R.11
Pollett, A.12
Riddell, R.H.13
Ngan, B.Y.14
Cutz, E.15
Lagarde, A.E.16
Chan, H.S.L.17
-
10
-
-
25644437125
-
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers
-
DOI 10.1111/j.1572-0241.2005.50441.x
-
Agostini M, Tibiletti MG, Lucci-Cordisco E, et al. Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. Am J Gastroenterol 2005;100:1886-1891. (Pubitemid 41648446)
-
(2005)
American Journal of Gastroenterology
, vol.100
, Issue.8
, pp. 1886-1891
-
-
Agostini, M.1
Tibiletti, M.G.2
Lucci-Cordisco, E.3
Chiaravalli, A.4
Morreau, H.5
Furlan, D.6
Boccuto, L.7
Pucciarelli, S.8
Capella, C.9
Boiocchi, M.10
Viel, A.11
-
11
-
-
21244496876
-
An unusual case of Turcot's syndrome associated with ileal adenocarcinoma, intestinal non-Hodgkin's lymphoma, and duodenal adenocarcinoma. Review of the classification and genetic basis of Turcot's syndrome
-
Murphy HR, Taylor W, Ellis A, et al. An unusual case of Turcot's syndrome associated with ileal adenocarcinoma, intestinal non-Hodgkin's lymphoma, and duodenal adenocarcinoma. Review of the classification and genetic basis of Turcot's syndrome. Fam Cancer 2005;4:139-143.
-
(2005)
Fam Cancer
, vol.4
, pp. 139-143
-
-
Murphy, H.R.1
Taylor, W.2
Ellis, A.3
-
12
-
-
33847084436
-
Homozygous PMS2 Deletion Causes a Severe Colorectal Cancer and Multiple Adenoma Phenotype Without Extraintestinal Cancer
-
DOI 10.1053/j.gastro.2006.11.043, PII S0016508506025248
-
Will O, Carvajal-Carmona LG, Gorman P, et al. Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer. Gastroenterology 2007;132:527-530. (Pubitemid 46274663)
-
(2007)
Gastroenterology
, vol.132
, Issue.2
, pp. 527-530
-
-
Will, O.1
Carvajal-Carmona, L.G.2
Gorman, P.3
Howarth, K.M.4
Jones, A.M.5
Polanco-Echeverry, G.M.6
Chinaleong, J.-A.7
Gunther, T.8
Silver, A.9
Clark, S.K.10
Tomlinson, I.11
-
13
-
-
37149004897
-
Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia
-
DOI 10.1016/j.mrfmmm.2007.08.003, PII S0027510707003156
-
Alotaibi H, Ricciardone MD, Ozturk M. Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia. Mutat Res 2008;637:209-214. (Pubitemid 350256773)
-
(2008)
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
, vol.637
, Issue.1-2
, pp. 209-214
-
-
Alotaibi, H.1
Ricciardone, M.D.2
Ozturk, M.3
-
14
-
-
0037315934
-
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type
-
Wang Q, Montmain G, Ruano E, et al. Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. Hum Genet 2003;112:117-123. (Pubitemid 36869093)
-
(2003)
Human Genetics
, vol.112
, Issue.2
, pp. 117-123
-
-
Wang, Q.1
Mountmain, G.2
Ruano, E.3
Upadhyaya, M.4
Dudley, S.5
Liskay, R.M.6
Thibodeau, S.N.7
Puisieux, A.8
-
15
-
-
33646044700
-
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, et al. Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. Eur J Hum Genet 2006;14:561-566.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 561-566
-
-
Plaschke, J.1
Linnebacher, M.2
Kloor, M.3
-
16
-
-
33846660119
-
Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations
-
DOI 10.1038/ncponc0719, PII NCPONC0719
-
Scott RH, Mansour S, Pritchard-Jones K, et al. Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations. Nat Clin Pract Oncol 2007;4:130-134. (Pubitemid 46189541)
-
(2007)
Nature Clinical Practice Oncology
, vol.4
, Issue.2
, pp. 130-134
-
-
Scott, R.H.1
Pritchard-Jones, K.2
Rahman, N.3
Mansour, S.4
Kumar, D.5
MacSweeney, F.6
-
17
-
-
43049090849
-
Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus
-
DOI 10.1002/ajmg.a.32210
-
Rahner N, Hoefler G, Hogenauer C, et al. Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. Am J Med Genet A 2008;146A:1314-1319. (Pubitemid 351631330)
-
(2008)
American Journal of Medical Genetics, Part a
, vol.146
, Issue.10
, pp. 1314-1319
-
-
Rahner, N.1
Hoefler, G.2
Hogenauer, C.3
Lackner, C.4
Steinke, V.5
Sengteller, M.6
Friedl, W.7
Aretz, S.8
Propping, P.9
Mangold, E.10
Walldorf, C.11
-
18
-
-
38949127061
-
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference
-
DOI 10.1002/humu.20657
-
Etzler J, Peyrl A, Zatkova A, et al. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. Hum Mutat 2008;29:299-305. (Pubitemid 351240603)
-
(2008)
Human Mutation
, vol.29
, Issue.2
, pp. 299-305
-
-
Etzler, J.1
Peyrl, A.2
Zatkova, A.3
Schildhaus, H.-U.4
Ficek, A.5
Merkelbach-Bruse, S.6
Kratz, C.P.7
Attarbaschi, A.8
Hainfellner, J.A.9
Yao, S.10
Messiaen, L.11
Slave, I.12
Wimmer, K.13
-
19
-
-
34247602434
-
Extensive gene conversion at the PMS2 DNA mismatch repair locus
-
DOI 10.1002/humu.20457
-
Hayward BE, De Vos M, Valleley EM, et al. Extensive gene conversion at the PMS2 DNA mismatch repair locus. Hum Mutat 2007;28:424-430. (Pubitemid 46668600)
-
(2007)
Human Mutation
, vol.28
, Issue.5
, pp. 424-430
-
-
Hayward, B.E.1
De Vos, M.2
Valleley, E.M.A.3
Charlton, R.S.4
Taylor, G.R.5
Sheridan, E.6
Bonthron, D.T.7
-
20
-
-
1842841660
-
Mutations in DNA mismatch repair genes: Implications for DNA damage signaling and drug sensitivity
-
review
-
Fedier A, Fink D. Mutations in DNA mismatch repair genes: Implications for DNA damage signaling and drug sensitivity (review). Int J Oncol 2004;24:1039-1047.
-
(2004)
Int J Oncol
, vol.24
, pp. 1039-1047
-
-
Fedier, A.1
Fink, D.2
|