-
1
-
-
0029915034
-
Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome)
-
Lynch, H. T., Smyrk, T., and Lynch, J. F. Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome). Int. J. Cancer., 69: 38-43, 1996.
-
(1996)
Int. J. Cancer.
, vol.69
, pp. 38-43
-
-
Lynch, H.T.1
Smyrk, T.2
Lynch, J.F.3
-
2
-
-
0030739106
-
Molecular basis of HNPCC: Mutations of MMR genes
-
Papadopoulos, N., and Lindblom, A. Molecular basis of HNPCC: mutations of MMR genes. Hum. Mutat., 10: 89-99, 1997.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 89-99
-
-
Papadopoulos, N.1
Lindblom, A.2
-
3
-
-
0028019398
-
Microsatellite instability: Marker of a mutator phenotype in cancer
-
Loeb, L. A. Microsatellite instability: marker of a mutator phenotype in cancer. Cancer Res., 54: 5059-5063, 1994.
-
(1994)
Cancer Res.
, vol.54
, pp. 5059-5063
-
-
Loeb, L.A.1
-
4
-
-
0031564172
-
Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families
-
Wang, Q., Desseigne, F., Lasset, C., Saurin, J-C., Navarro, C., Yagci, T., Kiser, I., Bagci, H., Luleci, G., Gelen, T., Chayvial, J-A., Puisieux, A., and Ozturk, M. Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families. Int. J. Cancer, 73: 831-836, 1997.
-
(1997)
Int. J. Cancer
, vol.73
, pp. 831-836
-
-
Wang, Q.1
Desseigne, F.2
Lasset, C.3
Saurin, J.-C.4
Navarro, C.5
Yagci, T.6
Kiser, I.7
Bagci, H.8
Luleci, G.9
Gelen, T.10
Chayvial, J.-A.11
Puisieux, A.12
Ozturk, M.13
-
5
-
-
0030755372
-
Functional domains of the Saccharomyces cerevisiae MLH1p and PMS1p DNA mismatch repair proteins and their relevance to human hereditary non polyposis colorectal cancer-associated mutations
-
Pang, Q., Prolla, TA., and Liskay, R. M. Functional domains of the Saccharomyces cerevisiae MLH1p and PMS1p DNA mismatch repair proteins and their relevance to human hereditary non polyposis colorectal cancer-associated mutations. Mol. Cell Biol., 17: 4465-4473, 1997.
-
(1997)
Mol. Cell Biol.
, vol.17
, pp. 4465-4473
-
-
Pang, Q.1
Prolla, T.A.2
Liskay, R.M.3
-
6
-
-
0031015440
-
Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability
-
Herfarth, K. K-F., Kodner, I. J., Whelan, A. J., Ivanovich, J. L., Bracamontes, J. R., Well, S. A., Jr., and Goodfellow, P. J. Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability. Genes Chromosomes Cancer, 18: 42-49, 1997.
-
(1997)
Genes Chromosomes Cancer
, vol.18
, pp. 42-49
-
-
Herfarth, K.K.-F.1
Kodner, I.J.2
Whelan, A.J.3
Ivanovich, J.L.4
Bracamontes, J.R.5
Well S.A., Jr.6
Goodfellow, P.J.7
-
7
-
-
0031000607
-
Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system
-
Sasaki, S., Miyatsu, T., Muto, T., and Nakamura, Y. Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system. Hum. Mutat., 9: 164-171, 1997.
-
(1997)
Hum. Mutat.
, vol.9
, pp. 164-171
-
-
Sasaki, S.1
Miyatsu, T.2
Muto, T.3
Nakamura, Y.4
-
8
-
-
0028822645
-
Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families
-
Tannergard, P., Lipford, J. R., Kolodner, R., Frodin, J. E., Nordenskjold, M. and Lindblom, A. Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res., 55: 6092-6096, 1995.
-
(1995)
Cancer Res.
, vol.55
, pp. 6092-6096
-
-
Tannergard, P.1
Lipford, J.R.2
Kolodner, R.3
Frodin, J.E.4
Nordenskjold, M.5
Lindblom, A.6
-
9
-
-
15844367099
-
Meiotic pachytene arrest in MLH1-deficient mice
-
Edelmann, W., Cohen, P. E., Kane, M., Lau, K., Morrow, B., Bennett, S., Uma, A., Kunkel, T., Cattoretti, G., Chaganti, R. Pollard, J. W., Kolodner, R. D., and Kucherlapati, R. Meiotic pachytene arrest in MLH1-deficient mice. Cell, 28: 1125-1134, 1996.
-
(1996)
Cell
, vol.28
, pp. 1125-1134
-
-
Edelmann, W.1
Cohen, P.E.2
Kane, M.L.K.3
Morrow, B.4
Bennett, S.5
Uma, A.6
Kunkel, T.7
Cattoretti, G.8
Chaganti, R.9
Pollard, J.W.10
Kolodner, R.D.11
Kucherlapati, R.12
-
10
-
-
0002648901
-
Neurofibromatosis. Historical perspective, classification and diagnostic criteria
-
S. M. Huson and R. A. C. Hughes (eds), London: Chapman & Hall Medical
-
Huson, S. M. Neurofibromatosis. Historical perspective, classification and diagnostic criteria. In: S. M. Huson and R. A. C. Hughes (eds), The Neurofibromatoses. A Pathogenetic and Clinical Overview, pp. 1-22. London: Chapman & Hall Medical. 1994.
-
(1994)
The Neurofibromatoses. A Pathogenetic and Clinical Overview
, pp. 1-22
-
-
Huson, S.M.1
-
11
-
-
0030070963
-
Somatic mosaicism in a patient with neurofibromatosis type 1
-
Colman, S. D., Rasmussen, S. A., Ho, V. T., Abernathy, C. R., and Wallace, M. R. Somatic mosaicism in a patient with neurofibromatosis Type 1. Am. J. Hum. Genet., 58: 484-490, 1996.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 484-490
-
-
Colman, S.D.1
Rasmussen, S.A.2
Ho, V.T.3
Abernathy, C.R.4
Wallace, M.R.5
-
12
-
-
0026319619
-
cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product
-
Marchuk, D. A. Saulino, A. M., Tavakkol, R., Swaroop, M., Wallace, M. R., Andersen, L. B., Mitchell, A. L., Gutmann, D. H., Boguski, M., and Collins, F. S. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics. 11: 931-940, 1991.
-
(1991)
Genomics
, vol.11
, pp. 931-940
-
-
Marchuk, D.A.1
Saulino, A.M.2
Tavakkol, R.3
Swaroop, M.4
Wallace, M.R.5
Andersen, L.B.6
Mitchell, A.L.7
Gutmann, D.H.8
Boguski, M.9
Collins, F.S.10
-
13
-
-
0025097932
-
Paternal origin of new mutations in Von Recklinghausen neurofibromatosis
-
Jadayel, D., Fain, P., Upadhyaya, M., Ponder, M. A., Huson, S. M., Carey, J., Fryer, A., Mathew, C. G. P., Barker, D. F., and Ponder, B. A. J. Paternal origin of new mutations in Von Recklinghausen neurofibromatosis. Nature (Lond.), 343: 558-559, 1990.
-
(1990)
Nature (Lond.)
, vol.343
, pp. 558-559
-
-
Jadayel, D.1
Fain, P.2
Upadhyaya, M.3
Ponder, M.A.4
Huson, S.M.5
Carey, J.6
Fryer, A.7
Mathew, C.G.P.8
Barker, D.F.9
Ponder, B.A.J.10
-
14
-
-
0031025934
-
The second case of a t(17:22) in a family with neurofihromatosis type 1: Sequence analysis of the breakpoint regions
-
Kehrer-Sawatzki, H., Haüssler, J., Krone, W., Bode, H., Jenne, D. E., Mehnert, K. U., Tümmers, U., and Assum. G. The second case of a t(17:22) in a family with neurofihromatosis type 1: sequence analysis of the breakpoint regions. Hum. Genet., 99: 237-247, 1997.
-
(1997)
Hum. Genet.
, vol.99
, pp. 237-247
-
-
Kehrer-Sawatzki, H.1
Haüssler, J.2
Krone, W.3
Bode, H.4
Jenne, D.E.5
Mehnert, K.U.6
Tümmers, U.7
Assum, G.8
-
15
-
-
0028349997
-
Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues
-
Brannan, C. I., Perkins, A. S., Vogel, K. S., Ratner, N., Nordlund, M. L., Reid, S. W., Buchberg, A. M., Jenkins, N. A., Parada, L. H., and Copeland, N. G. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev., 8: 1019-1029, 1994.
-
(1994)
Genes Dev.
, vol.8
, pp. 1019-1029
-
-
Brannan, C.I.1
Perkins, A.S.2
Vogel, K.S.3
Ratner, N.4
Nordlund, M.L.5
Reid, S.W.6
Buchberg, A.M.7
Jenkins, N.A.8
Parada, L.H.9
Copeland, N.G.10
-
16
-
-
0025091465
-
The neurofibromatosis type 1 gene encodes a protein related to GAP
-
Xu, G. K. O'Connell, P., Viskochil, D., Cawthon, R., Robertson, M., Culver, M., Dunn, D., Stevens, J., Gesteland, R., and White, R. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell, 62: 599-608, 1990.
-
(1990)
Cell
, vol.62
, pp. 599-608
-
-
Xu, G.K.1
O'Connell, P.2
Viskochil, D.3
Cawthon, R.4
Robertson, M.5
Culver, M.6
Dunn, D.7
Stevens, J.8
Gesteland, R.9
White, R.10
-
17
-
-
0030947237
-
Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant mycloid disorders
-
Side, L., Taylor, B., Cayouette, M., Conner, E., Thompson, P., Luce, M., and Shannon, K. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant mycloid disorders. N. Engl. J. Med., 336: 1713-1720, 1997.
-
(1997)
N. Engl. J. Med.
, vol.336
, pp. 1713-1720
-
-
Side, L.1
Taylor, B.2
Cayouette, M.3
Conner, E.4
Thompson, P.5
Luce, M.6
Shannon, K.7
-
18
-
-
0031255322
-
A human compound heterozygote for two MLH1 missense mutations
-
Hackman, P., Tannergard, P., Osei-Mensa, S., Chen, J., Kane, M. F., Kolodner, R., Lambert, B., Hellgren, D., and Lindblom, A. A human compound heterozygote for two MLH1 missense mutations. Nat. Genet., 17: 135-136, 1997.
-
(1997)
Nat. Genet.
, vol.17
, pp. 135-136
-
-
Hackman, P.1
Tannergard, P.2
Osei-Mensa, S.3
Chen, J.4
Kane, M.F.5
Kolodner, R.6
Lambert, B.7
Hellgren, D.8
Lindblom, A.9
-
19
-
-
0023693640
-
Multiple coloreclal carcinomas, polyposis coli, and neurofibromatosis
-
Pratt, C. B., Parham, D. M., Rao, B. N., Fleming, I. D., and Dilawari, R. Multiple coloreclal carcinomas, polyposis coli, and neurofibromatosis. J. Natl. Cancer Inst., 80: 1170-1172, 1988.
-
(1988)
J. Natl. Cancer Inst.
, vol.80
, pp. 1170-1172
-
-
Pratt, C.B.1
Parham, D.M.2
Rao, B.N.3
Fleming, I.D.4
Dilawari, R.5
-
20
-
-
0025878474
-
Multiple colorectal carcinomas, polyposis coli and neurofibromatosis, followed by multiple glioblastoma multiforme
-
Prat, C. B., and Jane, J. A. Multiple colorectal carcinomas, polyposis coli and neurofibromatosis, followed by multiple glioblastoma multiforme. J. Natl. Cancer Inst., 83: 880-881, 1991.
-
(1991)
J. Natl. Cancer Inst.
, vol.83
, pp. 880-881
-
-
Prat, C.B.1
Jane, J.A.2
-
21
-
-
0345222475
-
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1
-
Ricciardone, M.D., Özçelik, T., Cevher, B., Özdag, H., Tuncer, M., Gürgey, A., Uzunalimoglu, Ö., Cetinkaya, H., Tanyeli, A., Erken, E., and Özturk, M. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. Cancer Res., 59: 290-293, 1999.
-
(1999)
Cancer Res.
, vol.59
, pp. 290-293
-
-
Ricciardone, M.D.1
Özçelik, T.2
Cevher, B.3
Özdag, H.4
Tuncer, M.5
Gürgey, A.6
Uzunalimoglu, O.7
Cetinkaya, H.8
Tanyeli, A.9
Erken, E.10
Özturk, M.11
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