-
1
-
-
33646918038
-
The genetics of HNPCC: Application to diagnosis and screening
-
DOI 10.1016/j.critrevonc.2005.11.001, PII S1040842805002258
-
WM Abdel-Rahman JP Mecklin P Peltomaki 2006 The genetics of HNPCC: application to diagnosis and screening Crit Rev Oncol Hematol 58 208 220 10.1016/j.critrevonc.2005.11.001 10.1016/j.critrevonc.2005.11.001 16434208 (Pubitemid 43796078)
-
(2006)
Critical Reviews in Oncology/Hematology
, vol.58
, Issue.3
, pp. 208-220
-
-
Abdel-Rahman, W.M.1
Mecklin, J.-P.2
Peltomaki, P.3
-
2
-
-
0035161440
-
Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing
-
10.1053/gast.2001.20874 10.1053/gast.2001.20874 1:CAS:528: DC%2BD3MXoslCrug%3D%3D 11208710
-
JP Terdiman JR Gum Jr PG Conrad, et al. 2001 Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing Gastroenterology 120 21 30 10.1053/gast.2001.20874 10.1053/gast.2001.20874 1:CAS:528: DC%2BD3MXoslCrug%3D%3D 11208710
-
(2001)
Gastroenterology
, vol.120
, pp. 21-30
-
-
Terdiman, J.P.1
Gum Jr, J.R.2
Conrad, P.G.3
-
3
-
-
4544310802
-
Mutations associated with HNPCC predisposition update of ICG-HNPCC/INSiGHT mutation database
-
15528792
-
P Peltomaki H Vasen 2004 Mutations associated with HNPCC predisposition update of ICG-HNPCC/INSiGHT mutation database Dis Markers 20 269 276 15528792
-
(2004)
Dis Markers
, vol.20
, pp. 269-276
-
-
Peltomaki, P.1
Vasen, H.2
-
4
-
-
0032534069
-
A national cancer institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
-
1:CAS:528:DyaK1cXnsFSmtbk%3D 9823339
-
CR Boland SN Thibodeau SR Hamilton, et al. 1998 A national cancer institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer Cancer Res 58 5248 5257 1:CAS:528:DyaK1cXnsFSmtbk%3D 9823339
-
(1998)
Cancer Res
, vol.58
, pp. 5248-5257
-
-
Boland, C.R.1
Thibodeau, S.N.2
Hamilton, S.R.3
-
5
-
-
0027285475
-
Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
-
DOI 10.1038/363558a0
-
Y Ionov MA Peinado S Malkhosyan, et al. 1993 Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis Nature 363 558 561 10.1038/363558a0 10.1038/363558a0 1:CAS:528: DyaK3sXks12hu7c%3D 8505985 (Pubitemid 23186645)
-
(1993)
Nature
, vol.363
, Issue.6429
, pp. 558-561
-
-
Ionov, Y.1
Peinado, M.A.2
Malkhosyan, S.3
Shibata, D.4
Perucho, M.5
-
6
-
-
13144266670
-
Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
-
DOI 10.1073/pnas.95.12.6870
-
JG Herman A Umar K Polyak, et al. 1998 Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma Proc Natl Acad Sci USA 95 6870 6875 10.1073/pnas.95.12.6870 10.1073/pnas.95.12.6870 1:CAS:528:DyaK1cXjslynu7s%3D 9618505 (Pubitemid 28278073)
-
(1998)
Proceedings of the National Academy of Sciences of the United States of America
, vol.95
, Issue.12
, pp. 6870-6875
-
-
Herman, J.G.1
Umar, A.2
Polyak, K.3
Graff, J.R.4
Ahuja, N.5
Issa, J.-P.J.6
Markowitz, S.7
Willson, J.K.V.8
Hamilton, S.R.9
Kinzler, K.W.10
Kane, M.F.11
Kolodner, R.D.12
Vogelstein, B.13
Kunkel, T.A.14
Baylin, S.B.15
-
7
-
-
17144441735
-
Causes of microsatellite instability in colorectal tumors: Implications for hereditary non-polyposis colorectal cancer screening
-
DOI 10.1016/S0165-4608(00)00399-X
-
U Potocnik D Glavac R Golouh, et al. 2001 Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening Cancer Genet Cytogenet 126 85 96 10.1016/S0165-4608(00)00399-X 10.1016/S0165-4608(00)00399-X 1:CAS:528: DC%2BD3MXjslSltrw%3D 11376800 (Pubitemid 32453324)
-
(2001)
Cancer Genetics and Cytogenetics
, vol.126
, Issue.2
, pp. 85-96
-
-
Potocnik, U.1
Glavac, D.2
Golouh, R.3
Ravnik-Glavac, M.4
-
8
-
-
1042290354
-
Testing guidelines for hereditary non-polyposis colorectal cancer
-
1:CAS:528:DC%2BD2cXhtlaqu70%3D 14964310
-
A Umar JI Risinger ET Hawk, et al. 2004 Testing guidelines for hereditary non-polyposis colorectal cancer Nat Rev Cancer 4 153 158 1:CAS:528: DC%2BD2cXhtlaqu70%3D 14964310
-
(2004)
Nat Rev Cancer
, vol.4
, pp. 153-158
-
-
Umar, A.1
Risinger, J.I.2
Hawk, E.T.3
-
9
-
-
0036893598
-
Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR
-
DOI 10.1053/gast.2002.37070
-
N Suraweera A Duval M Reperant, et al. 2002 Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR Gastroenterology 123 1804 1811 10.1053/gast.2002.37070 10.1053/gast.2002.37070 1:CAS:528:DC%2BD38Xps1yktb8%3D 12454837 (Pubitemid 35408304)
-
(2002)
Gastroenterology
, vol.123
, Issue.6
, pp. 1804-1811
-
-
Suraweera, N.1
Duval, A.2
Reperant, M.3
Vaury, C.4
Furlan, D.5
Leroy, K.6
Seruca, R.7
Iacopetta, B.8
Hamelin, R.9
-
10
-
-
10744233937
-
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
-
A Umar CR Boland JP Terdiman, et al. 2004 Revised bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 261 268 1:CAS:528:DC%2BD2cXhsV2qtLk%3D 14970275 (Pubitemid 38256271)
-
(2004)
Journal of the National Cancer Institute
, vol.96
, Issue.4
, pp. 261-268
-
-
Umar, A.1
Boland, C.R.2
Terdiman, J.P.3
Syngal, S.4
De La Chapelle, A.5
Ruschoff, J.6
Fishel, R.7
Lindor, N.M.8
Burgart, L.J.9
Hamelin, R.10
Hamilton, S.R.11
Hiatt, R.A.12
Jass, J.13
Lindblom, A.14
Lynch, H.T.15
Peltomaki, P.16
Ramsey, S.D.17
Rodriguez-Bigas, M.A.18
Vasen, H.F.A.19
Hawk, E.T.20
Barrett, J.C.21
Freedman, A.N.22
Srivastava, S.23
more..
-
11
-
-
27944482537
-
Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain
-
AA de Sanchez A Tosar J Godino, et al. 2005 Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain World J Gastroenterol 11 5770 5776
-
(2005)
World J Gastroenterol
, vol.11
, pp. 5770-5776
-
-
De Sanchez, A.A.1
Tosar, A.2
Godino, J.3
-
12
-
-
21044440847
-
Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer
-
DOI 10.1053/j.gastro.2005.01.056, PII S001650850500168X
-
K Truninger M Menigatti J Luz, et al. 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer Gastroenterology 128 1160 1171 10.1053/j.gastro.2005.01.056 10.1053/j.gastro.2005.01.056 1:CAS:528:DC%2BD2MXlt1Cisr0%3D 15887099 (Pubitemid 40712168)
-
(2005)
Gastroenterology
, vol.128
, Issue.5
, pp. 1160-1171
-
-
Truninger, K.1
Menigatti, M.2
Luz, J.3
Russell, A.4
Haider, R.5
Gebbers, J.-O.6
Bannwart, F.7
Yurtsever, H.8
Neuweiler, J.9
Riehle, H.-M.10
Cattaruzza, M.S.11
Heinimann, K.12
Schar, P.13
Jiricny, J.14
Marra, G.15
-
13
-
-
0033971669
-
Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
-
DOI 10.1002/(SICI)1097-0215(20000301)85:5<606::AID-IJC2>3.0.CO;2-B
-
J Plaschke C Kruppa R Tischler, et al. 2000 Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer Int J Cancer 85 606 613 10.1002/(SICI)1097- 0215(20000301)85:5<606::AID-IJC2>3.0.CO;2-B 10.1002/(SICI)1097- 0215(20000301)85:5<606::AID-IJC2>3.0.CO;2-B 1:CAS:528:DC%2BD3cXht1aqs78%3D 10699937 (Pubitemid 30080470)
-
(2000)
International Journal of Cancer
, vol.85
, Issue.5
, pp. 606-613
-
-
Plaschke, J.1
Kruppa, C.2
Tischler, R.3
Bocker, T.4
Pistorius, S.5
Dralle, H.6
Ruschoff, J.7
Saeger, H.D.8
Fishel, R.9
Schackert, H.K.10
-
14
-
-
0001628596
-
Familial endometrial cancer in female carriers of MSH6 germline mutations [3]
-
DOI 10.1038/13773
-
J Wijnen H Vasen P Moller, et al. 1999 Familial endometrial cancer in female carriers of MSH6 germline mutations Nat Genet 23 142 144 10.1038/13773 10.1038/13773 1:CAS:528:DyaK1MXmtlOhtLg%3D 10508506 (Pubitemid 29455383)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 142-144
-
-
Wijnen, J.1
De Leeuw, W.2
Vasen, H.3
Van Der Klift, H.4
Moller, P.5
Stormorken, A.6
Meijers-Heijboer, H.7
Lindhout, D.8
Menko, F.9
Vossen, S.10
Moslein, G.11
Tops, C.12
Brocker-Vriends, A.13
Wu, Y.14
Hofstra, R.15
Sijmons, R.16
Cornelisse, C.17
Morreau, H.18
Fodde, R.19
-
15
-
-
29144443653
-
Mutational analysis of hMsh6 in Israeli HNPCC and HNPCC-like families
-
DOI 10.1007/s10689-005-1255-7
-
S Dovrat A Figer HH Fidder, et al. 2005 Mutational analysis of hMsh6 in Israeli HNPCC and HNPCC-like families Fam Cancer 4 291 294 10.1007/s10689-005- 1255-7 10.1007/s10689-005-1255-7 1:CAS:528:DC%2BD2MXhtlSjtbrP 16341805 (Pubitemid 41795803)
-
(2005)
Familial Cancer
, vol.4
, Issue.4
, pp. 291-294
-
-
Dovrat, S.1
Figer, A.2
Fidder, H.H.3
Neophytou, P.4
Fireman, Z.5
Geva, R.6
Zidan, J.7
Flex, D.8
Meir, S.B.9
Friedman, E.10
-
16
-
-
33845601309
-
Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability
-
DOI 10.1038/sj.bjc.6603478, PII 6603478
-
CM Kets JH Krieken KM Hebeda, et al. 2006 Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability Br J Cancer 95 1678 1682 10.1038/sj.bjc.6603478 10.1038/sj.bjc.6603478 1:CAS:528:DC%2BD28Xht12ktbfO 17117178 (Pubitemid 44950793)
-
(2006)
British Journal of Cancer
, vol.95
, Issue.12
, pp. 1678-1682
-
-
Kets, C.M.1
Van Krieken, J.H.J.M.2
Hebeda, K.M.3
Wezenberg, S.J.4
Goossens, M.5
Brunner, H.G.6
Ligtenberg, M.J.L.7
Hoogerbrugge, N.8
-
17
-
-
0035503698
-
The role of hPMS1 and hPMS2 in predisposing to colorectal cancer
-
1:CAS:528:DC%2BD3MXotlakurg%3D 11691795
-
T Liu H Yan S Kuismanen, et al. 2001 The role of hPMS1 and hPMS2 in predisposing to colorectal cancer Cancer Res 61 7798 7802 1:CAS:528: DC%2BD3MXotlakurg%3D 11691795
-
(2001)
Cancer Res
, vol.61
, pp. 7798-7802
-
-
Liu, T.1
Yan, H.2
Kuismanen, S.3
-
18
-
-
0032796919
-
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer
-
DOI 10.1007/s004390051067
-
Q Wang C Lasset F Desseigne, et al. 1999 Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer Hum Genet 105 79 85 10.1007/s004390051067 10.1007/s004390051067 1:CAS:528:DyaK1MXmsVarurw%3D 10480359 (Pubitemid 29396968)
-
(1999)
Human Genetics
, vol.105
, Issue.1-2
, pp. 79-85
-
-
Wang, Q.1
Lasset, C.2
Desseigne, F.3
Saurin, J.-C.4
Maugard, C.5
Navarro, C.6
Ruano, E.7
Descos, L.8
Trillet-Lenoir, V.9
Bosset, J.-F.10
Puisieux, A.11
-
19
-
-
32044450030
-
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)
-
DOI 10.1053/j.gastro.2005.10.052, PII S0016508505022328
-
YM Hendriks S Jagmohan-Changur HM Klift, et al. 2006 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome) Gastroenterology 130 312 322 10.1053/j.gastro.2005.10.052 10.1053/j.gastro.2005.10.052 1:CAS:528:DC%2BD28Xit1alu70%3D 16472587 (Pubitemid 43202031)
-
(2006)
Gastroenterology
, vol.130
, Issue.2
, pp. 312-322
-
-
Hendriks, Y.M.C.1
Jagmohan-Changur, S.2
Van Der Klift, H.M.3
Morreau, H.4
Van Puijenbroek, M.5
Tops, C.6
Van Os, T.7
Wagner, A.8
Ausems, M.G.F.M.9
Gomez, E.10
Breuning, M.H.11
Brocker-Vriends, A.H.J.T.12
Vasen, H.F.A.13
Wijnen, J.Th.14
-
20
-
-
33646372203
-
Long-range PCR facilitates the identification of PMS2-specific mutations
-
DOI 10.1002/humu.20318
-
M Clendenning H Hampel J LaJeunesse, et al. 2006 Long-range PCR facilitates the identification of PMS2-specific mutations Hum Mutat 27 490 495 10.1002/humu.20318 10.1002/humu.20318 1:CAS:528:DC%2BD28XkvFyltbs%3D 16619239 (Pubitemid 43673337)
-
(2006)
Human Mutation
, vol.27
, Issue.5
, pp. 490-495
-
-
Clendenning, M.1
Hampel, H.2
LaJeunesse, J.3
Lindblom, A.4
Lockman, J.5
Nilbert, M.6
Senter, L.7
Sotamaa, K.8
De La Chapelle, A.9
-
21
-
-
26944451323
-
Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6
-
1:CAS:528:DC%2BD2MXhtFGqsbjM 16237223
-
M Hegde M Blazo B Chong, et al. 2005 Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6 J Mol Diagn 7 525 534 1:CAS:528:DC%2BD2MXhtFGqsbjM 16237223
-
(2005)
J Mol Diagn
, vol.7
, pp. 525-534
-
-
Hegde, M.1
Blazo, M.2
Chong, B.3
-
22
-
-
1242263318
-
Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations
-
DOI 10.1111/j.1399-0004.2004.00214.x
-
E Thompson CJ Meldrum R Crooks, et al. 2004 Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations Clin Genet 65 215 225 10.1111/j.1399-0004.2004.00214.x 10.1111/j.1399-0004.2004.00214.x 1:STN:280:DC%2BD2c%2FpsVShsA%3D%3D 14756672 (Pubitemid 38239753)
-
(2004)
Clinical Genetics
, vol.65
, Issue.3
, pp. 215-225
-
-
Thompson, E.1
Meldrum, C.J.2
Crooks, R.3
McPhillips, M.4
Thomas, L.5
Spigelman, A.D.6
Scott, R.J.7
-
23
-
-
17944362664
-
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
-
DOI 10.1056/NEJMoa043146
-
H Hampel WL Frankel E Martin, et al. 2005 Screening for theLynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 1851 1860 10.1056/NEJMoa043146 10.1056/NEJMoa043146 1:CAS:528:DC%2BD2MXjvVeisL0%3D 15872200 (Pubitemid 40627811)
-
(2005)
New England Journal of Medicine
, vol.352
, Issue.18
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
Arnold, M.4
Khanduja, K.5
Kuebler, P.6
Nakagawa, H.7
Sotamaa, K.8
Prior, T.W.9
Westman, J.10
Panescu, J.11
Fix, D.12
Lockman, J.13
Comeras, I.14
De La Chapelle, A.15
-
24
-
-
5044227573
-
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
-
DOI 10.1038/sj.bjc.6602121
-
DJ Bunyan DM Eccles J Sillibourne, et al. 2004 Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification Br J Cancer 91 1155 1159 10.1038/sj.bjc.6602121 10.1038/sj.bjc.6602121 1:CAS:528:DC%2BD2cXot1Ckt70%3D 15475941 (Pubitemid 39336256)
-
(2004)
British Journal of Cancer
, vol.91
, Issue.6
, pp. 1155-1159
-
-
Bunyan, D.J.1
Eccles, D.M.2
Sillibourne, J.3
Wilkins, E.4
Thomas, N.J.5
Shea-Simonds, J.6
Duncan, P.J.7
Curtis, C.E.8
Robinson, D.O.9
Harvey, J.F.10
Cross, N.C.P.11
-
25
-
-
33847712926
-
Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors
-
10.1093/jnci/djk033 10.1093/jnci/djk033 1:CAS:528:DC%2BD2sXis1ShtbY%3D 17284719
-
RM Xicola X Llor E Pons, et al. 2007 Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors J Natl Cancer Inst 99 244 252 10.1093/jnci/djk033 10.1093/jnci/djk033 1:CAS:528:DC%2BD2sXis1ShtbY%3D 17284719
-
(2007)
J Natl Cancer Inst
, vol.99
, pp. 244-252
-
-
Xicola, R.M.1
Llor, X.2
Pons, E.3
-
26
-
-
0034129240
-
Population-based molecular detection of hereditary nonpolyposis colorectal cancer
-
R Salovaara A Loukola P Kristo, et al. 2000 Population-based molecular detection of hereditary nonpolyposis colorectal cancer J Clin Oncol 18 2193 2200 1:STN:280:DC%2BD3c3ptFajtg%3D%3D 10829038 (Pubitemid 30350210)
-
(2000)
Journal of Clinical Oncology
, vol.18
, Issue.11
, pp. 2193-2200
-
-
Salovaara, R.1
Loukola, A.2
Kristo, P.3
Kaariainen, H.4
Ahtola, H.5
Eskelinen, M.6
Harkonen, N.7
Julkunen, R.8
Kangas, E.9
Ojala, S.10
Tulikoura, J.11
Valkamo, E.12
Jarvinen, H.13
Mecklin, J.-P.14
Aaltonen, L.A.15
De La Chapelle, A.16
-
27
-
-
34249865623
-
The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer
-
DOI 10.1007/s00384-006-0228-0
-
J Warusavitarne M Schnitzler 2007 The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer Int J Colorectal Dis 22 739 748 10.1007/s00384-006-0228-0 10.1007/s00384-006-0228-0 17109103 (Pubitemid 46863751)
-
(2007)
International Journal of Colorectal Disease
, vol.22
, Issue.7
, pp. 739-748
-
-
Warusavitarne, J.1
Schnitzler, M.2
-
28
-
-
0033916953
-
Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population
-
10.1136/jmg.37.7.533 10.1136/jmg.37.7.533 1:CAS:528:DC%2BD3cXlsFGksbc%3D 10970186
-
M Ravnik-Glavac U Potocnik D Glavac 2000 Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population J Med Genet 37 533 536 10.1136/jmg.37.7.533 10.1136/jmg.37.7.533 1:CAS:528:DC%2BD3cXlsFGksbc%3D 10970186
-
(2000)
J Med Genet
, vol.37
, pp. 533-536
-
-
Ravnik-Glavac, M.1
Potocnik, U.2
Glavac, D.3
-
29
-
-
0142053924
-
MSH6 germline mutations are rare in colorectal cancer families
-
DOI 10.1002/ijc.11415
-
P Peterlongo K Nafa GS Lerman, et al. 2003 MSH6 germline mutations are rare in colorectal cancer families Int J Cancer 107 571 579 10.1002/ijc.11415 10.1002/ijc.11415 1:CAS:528:DC%2BD3sXoslequ7c%3D 14520694 (Pubitemid 37296117)
-
(2003)
International Journal of Cancer
, vol.107
, Issue.4
, pp. 571-579
-
-
Peterlongo, P.1
Nafa, K.2
Lerman, G.S.3
Glogowski, E.4
Shia, J.5
Ye, T.Z.6
Markowitz, A.J.7
Guillem, J.G.8
Kolachana, P.9
Boyd, J.A.10
Offit, K.11
Ellis, N.A.12
-
30
-
-
33747891736
-
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
-
DOI 10.1093/hmg/ddl171
-
PJ Smith C Zhang JC Wang 2006 An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers Hum Mol Genet 15 2490 2508 10.1093/hmg/ddl171 10.1093/hmg/ddl171 1:CAS:528:DC%2BD28XotlaisL4%3D 16825284 (Pubitemid 44288702)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.16
, pp. 2490-2508
-
-
Smith, P.J.1
Zhang, C.2
Wang, J.3
Chew, S.L.4
Zhang, M.Q.5
Krainer, A.R.6
-
31
-
-
0242522413
-
Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers
-
DOI 10.1086/378819
-
IP Gorlov OY Gorlova ML Frazier, et al. 2003 Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers Am J Hum Genet 73 1157 1161 10.1086/378819 10.1086/378819 1:CAS:528:DC%2BD3sXptVGns7c%3D 14526391 (Pubitemid 37414227)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.5
, pp. 1157-1161
-
-
Gorlov, I.P.1
Gorlova, O.Y.2
Frazier, M.L.3
Amos, C.I.4
-
32
-
-
0036164386
-
Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms
-
DOI 10.1002/humu.10040
-
ZQ Yuan B Gottlieb LK Beitel, et al. 2002 Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms Hum Mutat 19 108 113 10.1002/humu.10040 10.1002/humu.10040 1:CAS:528: DC%2BD38XhsVKrs7c%3D 11793469 (Pubitemid 34121801)
-
(2002)
Human Mutation
, vol.19
, Issue.2
, pp. 108-113
-
-
Yuan, Z.Q.1
Gottlieb, B.2
Beitel, L.K.3
Wong, N.4
Gordon, P.H.5
Wang, Q.6
Puisieux, A.7
Foulkes, W.D.8
Trifiro, M.9
-
33
-
-
0029741089
-
Frameshift mutator mutations [1]
-
DOI 10.1038/382499a0
-
S Malkhosyan N Rampino H Yamamoto, et al. 1996 Frameshift mutator mutations Nature 382 499 500 10.1038/382499a0 10.1038/382499a0 1:CAS:528:DyaK28XkvFGjsbg%3D 8700220 (Pubitemid 26260679)
-
(1996)
Nature
, vol.382
, Issue.6591
, pp. 499-500
-
-
Malkhosyan, S.1
Rampino, N.2
Yamamoto, H.3
Perucho, M.4
-
34
-
-
21144444336
-
Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer
-
DOI 10.1016/j.canlet.2005.01.036, PII S0304383505001059
-
S Castellvi-Bel A Castells M Strunk, et al. 2005 Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer Cancer Lett 225 93 98 10.1016/j.canlet.2005.01. 036 10.1016/j.canlet.2005.01.036 1:CAS:528:DC%2BD2MXks1Ggsbg%3D 16003840 (Pubitemid 40732772)
-
(2005)
Cancer Letters
, vol.225
, Issue.1
, pp. 93-98
-
-
Castellvi-Bel, S.1
Castells, A.2
Strunk, M.3
Ferrandez, A.4
Piazuelo, E.5
Mila, M.6
Pinol, V.7
Rodriguez-Moranta, F.8
Andreu, M.9
Lanas, A.10
Pique, J.M.11
-
35
-
-
9144226344
-
Aetiology of colorectal cancer and relevance of monogenic inheritance
-
DOI 10.1136/gut.53.1.115
-
M Ponz de Leon P Benatti F Borghi, et al. 2004 Aetiology of colorectal cancer and relevance of monogenic inheritance Gut 53 115 122 10.1136/gut.53.1.115 1:STN:280:DC%2BD2c%2FhtlensQ%3D%3D 14684585 (Pubitemid 38083019)
-
(2004)
Gut
, vol.53
, Issue.1
, pp. 115-122
-
-
Ponz De Leon, M.1
Benatti, P.2
Borghi, F.3
Pedroni, M.4
Scarselli, A.5
Di Gregorio, C.6
Losi, L.7
Viel, A.8
Genuardi, M.9
Abbati, G.10
Rossi, G.11
Menigatti, M.12
Lamberti, I.13
Ponti, G.14
Roncucci, L.15
|