-
1
-
-
0028061678
-
Hereditary gastrointestinal polyposis and nonpolyposis syndromes
-
Rustgi AK. Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med 1994;331:1694Y702.
-
(1994)
N Engl J Med
, vol.331
-
-
Rustgi, A.K.1
-
2
-
-
0027401792
-
Mutational analysis of patients with adenomatous polyposis: Identical inactivating mutations in unrelated individuals
-
Groden J, Gelbert L, Thliveris A, et al. Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. Am J Hum Genet 1993;52:263Y72.
-
(1993)
Am J Hum Genet
, vol.52
-
-
Groden, J.1
Gelbert, L.2
Thliveris, A.3
-
3
-
-
0025817880
-
Identification of FAP locus genes from chromosome 5q21
-
Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253:661Y5.
-
(1991)
Science
, vol.253
-
-
Kinzler, K.W.1
Nilbert, M.C.2
Su, L.K.3
-
4
-
-
0031044278
-
Alternative splicing of the APC gene and its association with terminal differentiation
-
Santoro IM, Groden J. Alternative splicing of the APC gene and its association with terminal differentiation. Cancer Res 1997;57:488Y94.
-
(1997)
Cancer Res
, vol.57
-
-
Santoro, I.M.1
Groden, J.2
-
6
-
-
0027146559
-
Mutations of the APC (adenomatous polyposis coli) gene
-
Nagase H, Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat 1993;2:425Y34.
-
(1993)
Hum Mutat
, vol.2
-
-
Nagase, H.1
Nakamura, Y.2
-
7
-
-
6844252957
-
Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli
-
van der Luijt RB, Meera Khan P, Vasen HF, et al. Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 1996;98:727Y34.
-
(1996)
Hum Genet
, vol.98
-
-
van der Luijt, R.B.1
Meera Khan, P.2
Vasen, H.F.3
-
8
-
-
0027724691
-
Alleles of the APC gene: An attenuated form of familial polyposis
-
Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell 1993;75:951Y7.
-
(1993)
Cell
, vol.75
-
-
Spirio, L.1
Olschwang, S.2
Groden, J.3
-
9
-
-
0031781181
-
Genotype-phenotype correlations in attenuated adenomatous polyposis coli
-
Soravia C, Berk T, Madlensky L, et al. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 1998;62:1290Y301.
-
(1998)
Am J Hum Genet
, vol.62
-
-
Soravia, C.1
Berk, T.2
Madlensky, L.3
-
10
-
-
0036478899
-
Inherited variants of MYH-associated with somatic G:C-9T:A mutations in colorectal tumors
-
Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH-associated with somatic G:C-9T:A mutations in colorectal tumors. Nat Genet 2002;30:227Y32.
-
(2002)
Nat Genet
, vol.30
-
-
Al-Tassan, N.1
Chmiel, N.H.2
Maynard, J.3
-
11
-
-
0037468517
-
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH
-
Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003;348:791Y9.
-
(2003)
N Engl J Med
, vol.348
-
-
Sieber, O.M.1
Lipton, L.2
Crabtree, M.3
-
12
-
-
1442283045
-
The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutation
-
De Rosa M, Scarano MI, Panarello L, et al. The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutation. Hum Mutat 2003;21:655Y6.
-
(2003)
Hum Mutat
, vol.21
-
-
De Rosa, M.1
Scarano, M.I.2
Panarello, L.3
-
13
-
-
34247629458
-
Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcript
-
De Rosa M, Morelli G, Cesaro E, et al. Alternative splicing and nonsense-mediated mRNA decay in the regulation of a new adenomatous polyposis coli transcript. Gene 2007;385: 8Y14.
-
(2007)
Gene
, vol.385
-
-
De Rosa, M.1
Morelli, G.2
Cesaro, E.3
-
14
-
-
0032878886
-
Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis
-
De Rosa M, Scarano MI, Panariello L, et al. Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis. Eur J Hum Genet 1999;7:695Y703.
-
(1999)
Eur J Hum Genet
, vol.7
-
-
De Rosa, M.1
Scarano, M.I.2
Panariello, L.3
-
15
-
-
0025938038
-
Identification and characterization of the familial adenomatous polyposis coli gene
-
Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589Y600.
-
(1991)
Cell
, vol.66
-
-
Groden, J.1
Thliveris, A.2
Samowitz, W.3
-
16
-
-
0042242582
-
ESEfinder: A web resource to identify exonic splicing enhancers
-
Carteggi L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003;31:3568Y71.
-
(2003)
Nucleic Acids Res
, vol.31
-
-
Carteggi, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
-
17
-
-
4444266965
-
First genotype characterization of Argentinean FAP patients: Identification of 14 novel APC mutations
-
De Rosa M, Dourisboure RJ, Morelli G, et al. First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. Hum Mutat 2004;23:523Y4.
-
(2004)
Hum Mutat
, vol.23
-
-
De Rosa, M.1
Dourisboure, R.J.2
Morelli, G.3
-
18
-
-
19044395448
-
Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations
-
Gavert N, Yaron Y, Naiman T, et al. Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations. Hum Mutat 2002;19:664.
-
(2002)
Hum Mutat
, vol.19
, pp. 664
-
-
Gavert, N.1
Yaron, Y.2
Naiman, T.3
-
19
-
-
0036848267
-
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-9T:A mutation
-
Jones S, Emmerson P, Maynard J, et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-9T:A mutation. Hum Mol Genet 2002;11: 2961Y7.
-
(2002)
Hum Mol Genet
, vol.11
-
-
Jones, S.1
Emmerson, P.2
Maynard, J.3
-
20
-
-
0038501052
-
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
-
Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003;362:39Y41.
-
(2003)
Lancet
, vol.362
-
-
Sampson, J.R.1
Dolwani, S.2
Jones, S.3
-
21
-
-
33846934728
-
Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing
-
Krawczak M, Thomas NS, Hundrieser B, et al. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat 2007;28:150Y8.
-
(2007)
Hum Mutat
, vol.28
-
-
Krawczak, M.1
Thomas, N.S.2
Hundrieser, B.3
-
22
-
-
0036207384
-
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
-
Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002;3:285Y98.
-
(2002)
Nat Rev Genet
, vol.3
-
-
Cartegni, L.1
Chew, S.L.2
Krainer, A.R.3
-
23
-
-
0028807360
-
APC mutation in the alternately spliced region of exon 9 associated with late onset familial adenomatous polyposis
-
van der Luijt RB, Vasen HF, Tops CM, Breukel C, Fodde R, Meera Khan P. APC mutation in the alternately spliced region of exon 9 associated with late onset familial adenomatous polyposis. Hum Genet 1995;96:705Y10.
-
(1995)
Hum Genet
, vol.96
-
-
van der Luijt, R.B.1
Vasen, H.F.2
Tops, C.M.3
Breukel, C.4
Fodde, R.5
Meera Khan, P.6
-
24
-
-
33749185580
-
Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation
-
Sieber OM, Segditsas S, Knudsen AL, et al. Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation. Gut 2006;55:1440Y8.
-
(2006)
Gut
, vol.55
-
-
Sieber, O.M.1
Segditsas, S.2
Knudsen, A.L.3
-
25
-
-
0028014412
-
Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death
-
Varesco L, Gismondi V, Presciuttini S, et al. Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death. Hum Genet 1994;93:281Y86.
-
(1994)
Hum Genet
, vol.93
-
-
Varesco, L.1
Gismondi, V.2
Presciuttini, S.3
-
26
-
-
6844257555
-
Transcript dosage effect in familial adenomatous polyposis: Model offered by two kindreds with exon 9 APC gene mutations
-
Curia MC, Esposito DL, Aceto G, et al. Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations. Hum Mutat 1998; 11:197Y201.
-
(1998)
Hum Mutat
, vol.11
-
-
Curia, M.C.1
Esposito, D.L.2
Aceto, G.3
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