-
1
-
-
0028226540
-
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion
-
BARBER, J.C., ELLIS, K.H., BOWLES, L.V., et al. (1994). Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. J. Med. Genet. 31, 312-316.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 312-316
-
-
Barber, J.C.1
Ellis, K.H.2
Bowles, L.V.3
-
2
-
-
0034754257
-
Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: Cumulative risks and APC gene mutations
-
BJÖRK, J., AKERBRANT, H., ISELIUS, L., et al. (2001). Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology 121:1127-1135.
-
(2001)
Gastroenterology
, vol.121
, pp. 1127-1135
-
-
Björk, J.1
Akerbrant, H.2
Iselius, L.3
-
3
-
-
0023223410
-
Localization of the gene for familial adenomatous polyposis on chromosome 5
-
BODMER, W.F., BAILEY, C.J., BODMER, J., et al. (1987). Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature 328, 614-616.
-
(1987)
Nature
, vol.328
, pp. 614-616
-
-
Bodmer, W.F.1
Bailey, C.J.2
Bodmer, J.3
-
4
-
-
0035024778
-
Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis
-
CAO, X., EU, K.W., SEOW-CHOEN, F., et al. (2001) Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis. Hum Genet 108, 436-442.
-
(2001)
Hum Genet
, vol.108
, pp. 436-442
-
-
Cao, X.1
Eu, K.W.2
Seow-Choen, F.3
-
5
-
-
0036024851
-
Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
-
CASILLI,, F., DI ROCCO, Z.C., GAD, S., et al. (2002). Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum. Mutat. 20, 218-226.
-
(2002)
Hum. Mutat.
, vol.20
, pp. 218-226
-
-
Casilli, F.1
Di Rocco, Z.C.2
Gad, S.3
-
6
-
-
0028883366
-
Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene
-
DAVIES, D.R., ARMSTRONG, J.G., THAKKER, N., et al. (1995). Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am. J. Hum. Genet. 57, 1151-1158.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1151-1158
-
-
Davies, D.R.1
Armstrong, J.G.2
Thakker, N.3
-
7
-
-
0037730135
-
Elevated risk for MPNST in NF1 microdeletion patients
-
DE RAEDT, T., BREMS, H., WOLKENSTEIN, P., et al. (2003). Elevated risk for MPNST in NF1 microdeletion patients. Am. J. Hum. Genet. 72, 1288-1292.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1288-1292
-
-
De Raedt, T.1
Brems, H.2
Wolkenstein, P.3
-
8
-
-
0032878886
-
Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis
-
DE ROSA, M., SCARANO, M.I., PANARIELLO, L., et al. (1999). Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis. Eur. J. Hum. Genet. 7, 695-703.
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 695-703
-
-
De Rosa, M.1
Scarano, M.I.2
Panariello, L.3
-
9
-
-
0035479235
-
Ever since Knudson
-
DEVILEE, P., CLETON-JANSEN, A.M., and CORNELISSE, C.J. (2001). Ever since Knudson. Trends Genet. 17, 569-573.
-
(2001)
Trends Genet.
, vol.17
, pp. 569-573
-
-
Devilee, P.1
Cleton-Jansen, A.M.2
Cornelisse, C.J.3
-
10
-
-
0035057699
-
The ABC of APC
-
FEARNHEAD, N.S., BRITTON, M.P., and BODMER, W.F. (2001). The ABC of APC. Hum. Mol. Genet. 10, 721-733.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 721-733
-
-
Fearnhead, N.S.1
Britton, M.P.2
Bodmer, W.F.3
-
11
-
-
0035109023
-
Submicroscopic deletions of the APC gene: A frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning
-
FLINTOFF, K.J., SHERIDAN, E., TURNER, G., et al. (2001). Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning. J. Med. Genet. 38, 129-132.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 129-132
-
-
Flintoff, K.J.1
Sheridan, E.2
Turner, G.3
-
12
-
-
18644386133
-
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
-
GILLE, J.J., HOGERVORST, F.B., PALS, G., et al. (2002). Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. Br. J. Cancer 87, 892-897.
-
(2002)
Br. J. Cancer
, vol.87
, pp. 892-897
-
-
Gille, J.J.1
Hogervorst, F.B.2
Pals, G.3
-
13
-
-
0025938038
-
Identification and characterization of the familial adenomatous polyposis coli gene
-
GRODEN, J., THLIVERIS, A., SAMOWITZ, W., et al. (1991). Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66, 589-600.
-
(1991)
Cell
, vol.66
, pp. 589-600
-
-
Groden, J.1
Thliveris, A.2
Samowitz, W.3
-
14
-
-
0035421416
-
The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
-
HEDRICH, K., KANN, M., LANTHALER, A.J., et al. (2001). The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum. Mol. Genet. 10, 1649-1656.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1649-1656
-
-
Hedrich, K.1
Kann, M.2
Lanthaler, A.J.3
-
15
-
-
0035887464
-
Non-truncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis
-
HEINIMANN, K., THOMPSON, A., LOCHER, A., et al. (2001). Non-truncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis. Cancer Res. 61, 7616-7622.
-
(2001)
Cancer Res.
, vol.61
, pp. 7616-7622
-
-
Heinimann, K.1
Thompson, A.2
Locher, A.3
-
16
-
-
0037380994
-
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
-
HOGERVORST, F.B., NEDERLOF, P.M., GILLE, J.J., et al. (2003). Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res. 63, 1449-1453.
-
(2003)
Cancer Res.
, vol.63
, pp. 1449-1453
-
-
Hogervorst, F.B.1
Nederlof, P.M.2
Gille, J.J.3
-
18
-
-
0026342477
-
An improved technique for chromosome preparations from human lymphocytes
-
JOHANNESSON, T., HOLMQVIST, D., MARTINSSON, T., et al. (1991). An improved technique for chromosome preparations from human lymphocytes. Hereditas 115, 295-297.
-
(1991)
Hereditas
, vol.115
, pp. 295-297
-
-
Johannesson, T.1
Holmqvist, D.2
Martinsson, T.3
-
19
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
KALLIONIEMI, A., KALLIONIEMI, O.P., SUDAR, D., et al. (1992). Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258, 818-821.
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
-
20
-
-
0025909734
-
Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers
-
KINZLER, K.W., NILBERT, M.C., VOGELSTEIN, B., et al. (1991). Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science 251, 1366-1370.
-
(1991)
Science
, vol.251
, pp. 1366-1370
-
-
Kinzler, K.W.1
Nilbert, M.C.2
Vogelstein, B.3
-
21
-
-
0026636703
-
Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)
-
KLINGER, K., LANDES, G., SHOOK, D., et al. (1992). Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am. J. Hum. Genet. 51, 55-65.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 55-65
-
-
Klinger, K.1
Landes, G.2
Shook, D.3
-
22
-
-
0023853544
-
Compilation of DNA strand exchange sites for non-homologous recombination in somatic cells
-
KONOPKA, A.K. (1988). Compilation of DNA strand exchange sites for non-homologous recombination in somatic cells. Nucleic Acids Res. 16, 1739-1758.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1739-1758
-
-
Konopka, A.K.1
-
23
-
-
0030021412
-
Familial adenomatous polyposis: A submicroscopic deletion at the APC locus in a family with mentally normal patients
-
MANDL, M., CASPARI, R., JAUCH, A., et al. (1996). Familial adenomatous polyposis: a submicroscopic deletion at the APC locus in a family with mentally normal patients. Hum. Genet. 97, 204-208.
-
(1996)
Hum. Genet.
, vol.97
, pp. 204-208
-
-
Mandl, M.1
Caspari, R.2
Jauch, A.3
-
24
-
-
0038364017
-
Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families
-
MONTAGNA, M., PALMA, M.D., MENIN, C., et al. (2003). Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum. Mol. Genet. 12, 1055-1061.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1055-1061
-
-
Montagna, M.1
Palma, M.D.2
Menin, C.3
-
25
-
-
0025262104
-
Becker muscular dystrophy: Correlation of deletion type with clinical severity
-
NORMAN, A.M., THOMAS, N.S., KINGSTON, H.M., et al. (1990). Becker muscular dystrophy: correlation of deletion type with clinical severity. J. Med. Genet. 27, 236-239.
-
(1990)
J. Med. Genet.
, vol.27
, pp. 236-239
-
-
Norman, A.M.1
Thomas, N.S.2
Kingston, H.M.3
-
26
-
-
16944363592
-
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
-
PETRIJ-BOSCH, A., PEELEN, T., VAN VLIET, M., et al. (1997). BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nature Genet. 17, 341-345.
-
(1997)
Nature Genet.
, vol.17
, pp. 341-345
-
-
Petrij-Bosch, A.1
Peelen, T.2
Van Vliet, M.3
-
27
-
-
0032847181
-
Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q
-
PILARSKI, R.T., BROTHMAN, A.R., BENN, P., et al. (1999). Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q. Am. J. Med. Genet. 86, 321-324.
-
(1999)
Am. J. Med. Genet.
, vol.86
, pp. 321-324
-
-
Pilarski, R.T.1
Brothman, A.R.2
Benn, P.3
-
28
-
-
0022446922
-
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
-
PINKEL, D., STRAUME, T., and GRAY, J.A. (1986). Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA 83, 2934-2938.
-
(1986)
Proc. Natl. Acad. Sci. USA
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Straume, T.2
Gray, J.A.3
-
29
-
-
0034798911
-
A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation
-
RAEDLE, J., FRIEDL, W., ENGELS, H., et al. (2001). A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation. Am. J. Gastroenterol. 96, 3016-3020.
-
(2001)
Am. J. Gastroenterol.
, vol.96
, pp. 3016-3020
-
-
Raedle, J.1
Friedl, W.2
Engels, H.3
-
30
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
SCHOUTEN, J.P., MCELGUNN, C.J., WAAIJER, R., et al. (2002). Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57.
-
(2002)
Nucleic Acids Res.
, vol.30
-
-
Schouten, J.P.1
Mcelgunn, C.J.2
Waaijer, R.3
-
31
-
-
18344367618
-
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas
-
SIEBER, O.M., LAMLUM, H., CRABTREE, M.D., et al. (2002). Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. Proc. Natl. Acad. Sci. USA 99, 2954-2958.
-
(2002)
Proc. Natl. Acad. Sci. USA
, vol.99
, pp. 2954-2958
-
-
Sieber, O.M.1
Lamlum, H.2
Crabtree, M.D.3
-
32
-
-
0035179871
-
Assembly of microarrays for genome-wide measurement of DNA copy number
-
SNIJDERS, A.M., NOWAK, N., SEGRAVES, R., et al. (2001). Assembly of microarrays for genome-wide measurement of DNA copy number. Nature Genet. 29, 263-264.
-
(2001)
Nature Genet.
, vol.29
, pp. 263-264
-
-
Snijders, A.M.1
Nowak, N.2
Segraves, R.3
-
33
-
-
0016700864
-
Detection of specific sequences among DNA fragments separated by gel electrophoresis
-
SOUTHERN, E.M. (1975). Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol. 98, 503-517.
-
(1975)
J. Mol. Biol.
, vol.98
, pp. 503-517
-
-
Southern, E.M.1
-
34
-
-
0023902435
-
A consensus sequence for cleavage by vertebrate DNA topoisomerase II
-
SPITZNER, J.R., and MULLER, M.T. (1988). A consensus sequence for cleavage by vertebrate DNA topoisomerase II. Nucleic Acids Res. 16, 5533-5556.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 5533-5556
-
-
Spitzner, J.R.1
Muller, M.T.2
-
35
-
-
0037903275
-
Human Gene Mutation Database (HGMD): 2003 Update
-
STENSON, P.D., BALL, E.V., MORT, M., et al. (2003). Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 21, 577-581.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
-
36
-
-
0346363771
-
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA
-
TAYLOR, C.F., CHARLTON, R.S., BURN, J., et al. (2003). Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum. Mutat. 22, 428-433.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 428-433
-
-
Taylor, C.F.1
Charlton, R.S.2
Burn, J.3
-
37
-
-
0141961837
-
Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma
-
TRUTA, B., ALLEN, B.A., CONRAD, P.G., et al. (2003). Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Fam. Cancer 2, 95-99.
-
(2003)
Fam. Cancer
, vol.2
, pp. 95-99
-
-
Truta, B.1
Allen, B.A.2
Conrad, P.G.3
-
38
-
-
0031795020
-
MSH2 genomic deletions are a frequent cause of HNPCC
-
WIJNEN, J., VAN DER KLIFT, H., VASEN, H., et al. (1998). MSH2 genomic deletions are a frequent cause of HNPCC. Nature Genet. 20, 326-328.
-
(1998)
Nature Genet.
, vol.20
, pp. 326-328
-
-
Wijnen, J.1
Van Der Klift, H.2
Vasen, H.3
|