-
1
-
-
0028226540
-
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion
-
Barber JCK, Ellis KH, Bowles LV, Delhanty JDA, Ede RF, Male BM, Eccles DM. 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.K.1
Ellis, K.H.2
Bowles, L.V.3
Delhanty, J.D.A.4
Ede, R.F.5
Male, B.M.6
Eccles, D.M.7
-
2
-
-
0000452806
-
Chromosome banding and staining techniques
-
Rooney DE, Czepulkowski BH, editors. Oxford: Oxford University Press
-
Benn PA, Perle MA. 1992. Chromosome banding and staining techniques. In: Rooney DE, Czepulkowski BH, editors. Human cytogenetics: A practical approach. Second edition. Oxford: Oxford University Press. p 91-118.
-
(1992)
Human Cytogenetics: A Practical Approach. Second Edition
, pp. 91-118
-
-
Benn, P.A.1
Perle, M.A.2
-
4
-
-
0026606009
-
An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations
-
Cross I, Delhanty J, Chapman P, Bowles LV, Griffin D, Wolstenholme J, Bradburn M, Brown J, Wood C, Gunn A, Burn J. 1992. An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J Med Genet 29:175-179.
-
(1992)
J Med Genet
, vol.29
, pp. 175-179
-
-
Cross, I.1
Delhanty, J.2
Chapman, P.3
Bowles, L.V.4
Griffin, D.5
Wolstenholme, J.6
Bradburn, M.7
Brown, J.8
Wood, C.9
Gunn, A.10
Burn, J.11
-
5
-
-
0030943734
-
Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis
-
Dobbie Z, Heinimann K, Bishop DT, Muller H, Scott RJ. 1997. Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis. Hum Genet 99:653-657.
-
(1997)
Hum Genet
, vol.99
, pp. 653-657
-
-
Dobbie, Z.1
Heinimann, K.2
Bishop, D.T.3
Muller, H.4
Scott, R.J.5
-
6
-
-
0028567875
-
A chain termination mutation in the mouse ape gene results in intestinal tumors
-
Fodde R, Edelmann W, Yang K, Leeuwen CV, Carlson C, Renault B, Bruekel C, Alt E, Lipkin M, Khan PM, Kucherlapati R. 1994. A chain termination mutation in the mouse Ape gene results in intestinal tumors. Proc Natl Acad Sci USA 91:8969-8973.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8969-8973
-
-
Fodde, R.1
Edelmann, W.2
Yang, K.3
Leeuwen, C.V.4
Carlson, C.5
Renault, B.6
Bruekel, C.7
Alt, E.8
Lipkin, M.9
Khan, P.M.10
Kucherlapati, R.11
-
7
-
-
0029587042
-
A tale of four syndromes: Familial adenomatous polyposis, gardner syndrome, attenuated apc and turcot syndrome
-
Foulkes WD. 1995. A tale of four syndromes: Familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. Q J Med 88:853-863.
-
(1995)
Q J Med
, vol.88
, pp. 853-863
-
-
Foulkes, W.D.1
-
8
-
-
0029897836
-
Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein
-
Friedl W, Meuschel S, Caspari R, Lamberti C, Krieger S, Sengteller M, Propping P. 1996. Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet 97:579-584.
-
(1996)
Hum Genet
, vol.97
, pp. 579-584
-
-
Friedl, W.1
Meuschel, S.2
Caspari, R.3
Lamberti, C.4
Krieger, S.5
Sengteller, M.6
Propping, P.7
-
9
-
-
15144342709
-
Phenotypic expression of disease in families that have mutations in the 5′ region of the adenomatous polyposis coli gene
-
Giardiello FM, Brensinger JD, Luce MC, Petersen GM, Cayouette MC, Krush AJ, Bacon JA, Booker SV, Bufill JA, Hamilton SR. 1997. Phenotypic expression of disease in families that have mutations in the 5′ region of the adenomatous polyposis coli gene. Ann Intern Med 126: 514-519.
-
(1997)
Ann Intern Med
, vol.126
, pp. 514-519
-
-
Giardiello, F.M.1
Brensinger, J.D.2
Luce, M.C.3
Petersen, G.M.4
Cayouette, M.C.5
Krush, A.J.6
Bacon, J.A.7
Booker, S.V.8
Bufill, J.A.9
Hamilton, S.R.10
-
10
-
-
0022810104
-
Gardner syndrome in a man with an interstitial deletion of 5q
-
Herrera L, Kakati S, Gibas L, Pietrzak E, Sandberg AA. 1986. Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet 25:473-476.
-
(1986)
Am J Med Genet
, vol.25
, pp. 473-476
-
-
Herrera, L.1
Kakati, S.2
Gibas, L.3
Pietrzak, E.4
Sandberg, A.A.5
-
12
-
-
0027231515
-
Two cases of 5q deletions in patients with familial adenomatous polyposis: Possible link with Caroli's disease
-
Hodgson SV, Coonar AS, Hanson PJV, Cottrell S, Scriven PN, Jones T, Hawley PR, Wilkinson ML. 1992. Two cases of 5q deletions in patients with familial adenomatous polyposis: Possible link with Caroli's disease. J Med Genet 30:369-375.
-
(1992)
J Med Genet
, vol.30
, pp. 369-375
-
-
Hodgson, S.V.1
Coonar, A.S.2
Hanson, P.J.V.3
Cottrell, S.4
Scriven, P.N.5
Jones, T.6
Hawley, P.R.7
Wilkinson, M.L.8
-
13
-
-
0025718473
-
Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5
-
Kobayashi T, Narahara K, Yokoyama Y, Ueyama S, Mohri O, Fujii T, Fujimoto M, Ohtsuki S, Tsuji K, Seino Y. 1991. Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. Am J Med Genet 41:460-463.
-
(1991)
Am J Med Genet
, vol.41
, pp. 460-463
-
-
Kobayashi, T.1
Narahara, K.2
Yokoyama, Y.3
Ueyama, S.4
Mohri, O.5
Fujii, T.6
Fujimoto, M.7
Ohtsuki, S.8
Tsuji, K.9
Seino, Y.10
-
14
-
-
0025354907
-
Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps
-
Leppert M, Burt R, Hughes JP, Samowitz W, Nakamura Y, Woodward S, Gardner E, Lalouel L, White R. 1990. Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med 322:904-908.
-
(1990)
N Engl J Med
, vol.322
, pp. 904-908
-
-
Leppert, M.1
Burt, R.2
Hughes, J.P.3
Samowitz, W.4
Nakamura, Y.5
Woodward, S.6
Gardner, E.7
Lalouel, L.8
White, R.9
-
15
-
-
0026684412
-
Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis
-
Lindgren V, Bryke CR, Ozcelik T, Yang-Feng TL, Franke U. 1992. Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. Am J Hum Genet 50:988-997.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 988-997
-
-
Lindgren, V.1
Bryke, C.R.2
Ozcelik, T.3
Yang-Feng, T.L.4
Franke, U.5
-
16
-
-
0028823186
-
Attenuated familial adenomatous polyposis (AFAP): A phenotypically and genotypically distinctive variant of FAP
-
Lynch HT, Smyrk T, McGinn T, Lanspa S, Cavalieri J, Lynch J, Slominski-Castor S, Cayouette MC, Priluck I, Luce MC. 1995. Attenuated familial adenomatous polyposis (AFAP): A phenotypically and genotypically distinctive variant of FAP. Cancer 76:2427-2433.
-
(1995)
Cancer
, vol.76
, pp. 2427-2433
-
-
Lynch, H.T.1
Smyrk, T.2
McGinn, T.3
Lanspa, S.4
Cavalieri, J.5
Lynch, J.6
Slominski-Castor, S.7
Cayouette, M.C.8
Priluck, I.9
Luce, M.C.10
-
17
-
-
0027769633
-
Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
-
Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G. 1993. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75:959-968.
-
(1993)
Cell
, vol.75
, pp. 959-968
-
-
Olschwang, S.1
Tiret, A.2
Laurent-Puig, P.3
Muleris, M.4
Parc, R.5
Thomas, G.6
-
18
-
-
0029100951
-
Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC
-
Samowitz WS, Thliveris A, Spirio LN, White R. 1995. Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC. Cancer Res 55:3732-3734.
-
(1995)
Cancer Res
, vol.55
, pp. 3732-3734
-
-
Samowitz, W.S.1
Thliveris, A.2
Spirio, L.N.3
White, R.4
-
19
-
-
0029014924
-
Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes
-
Scott R, van der Luijt R, Spycher M, Mary J, Muller A, Hoppeler T, Haner M, Müller H, Martinoli S, Brazzola P-L, Meera Khan P. 1995. Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes. Gut 36:731-736.
-
(1995)
Gut
, vol.36
, pp. 731-736
-
-
Scott, R.1
Van Der Luijt, R.2
Spycher, M.3
Mary, J.4
Muller, A.5
Hoppeler, T.6
Haner, M.7
Müller, H.8
Martinoli, S.9
Brazzola, P.-L.10
Meera Khan, P.11
-
20
-
-
0031781181
-
Genotype-phenotype correlations in attenuated adenomatous polyposis coli
-
Soravia C, Berk T, Madlensky L, Mitri A, Cheng H, Gallinger S, Cohen Z, Bapat B. 1998. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet 62:1290-1301.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1290-1301
-
-
Soravia, C.1
Berk, T.2
Madlensky, L.3
Mitri, A.4
Cheng, H.5
Gallinger, S.6
Cohen, Z.7
Bapat, B.8
-
21
-
-
0026664339
-
Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus
-
Spirio L, Otterud B, Stauffer D, Lynch H, Lynch P, Watson P, Lanspa S, Smyrk T, Cavalieri J, Howard L, Burt R, White R, Leppert M. 1992. Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. Am J Hum Genet 51: 92-100.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 92-100
-
-
Spirio, L.1
Otterud, B.2
Stauffer, D.3
Lynch, H.4
Lynch, P.5
Watson, P.6
Lanspa, S.7
Smyrk, T.8
Cavalieri, J.9
Howard, L.10
Burt, R.11
White, R.12
Leppert, M.13
-
22
-
-
0027724691
-
Alleles of the APC gene: An attenuated form of familial polyposis
-
Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterund B, Lynch H, Watson P, Lynch P, Laurent-Puig P, Burt R, Hughes JP, Thomas G, Leppert M, White R. 1993. Alleles of the APC gene: An attenuated form of familial polyposis. Cell 75:951-957.
-
(1993)
Cell
, vol.75
, pp. 951-957
-
-
Spirio, L.1
Olschwang, S.2
Groden, J.3
Robertson, M.4
Samowitz, W.5
Joslyn, G.6
Gelbert, L.7
Thliveris, A.8
Carlson, M.9
Otterund, B.10
Lynch, H.11
Watson, P.12
Lynch, P.13
Laurent-Puig, P.14
Burt, R.15
Hughes, J.P.16
Thomas, G.17
Leppert, M.18
White, R.19
-
23
-
-
0027264068
-
Association between wildtype and mutant APC gene products
-
Su L-K, Johnson KA, Smith KJ, Hill DE, Vogelstein B, Kinzler KW. 1993a. Association between wildtype and mutant APC gene products. Cancer Res 53:2728-2731.
-
(1993)
Cancer Res
, vol.53
, pp. 2728-2731
-
-
Su, L.-K.1
Johnson, K.A.2
Smith, K.J.3
Hill, D.E.4
Vogelstein, B.5
Kinzler, K.W.6
-
24
-
-
0027756014
-
Association of the APC tumor suppressor protein with catenins
-
Su L, Vogelstein B, Kinzler KW. 1993b. Association of the APC tumor suppressor protein with catenins. Science 262:1734-1737.
-
(1993)
Science
, vol.262
, pp. 1734-1737
-
-
Su, L.1
Vogelstein, B.2
Kinzler, K.W.3
-
25
-
-
0029988204
-
A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36
-
Tomlinson IPM, Neale K, Talbot IC, Spigelman AD, Williams CB, Phillips RKS, Bodmer WF. 1996. A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36. J Med Genet 33:268-273.
-
(1996)
J Med Genet
, vol.33
, pp. 268-273
-
-
Tomlinson, I.P.M.1
Neale, K.2
Talbot, I.C.3
Spigelman, A.D.4
Williams, C.B.5
Phillips, R.K.S.6
Bodmer, W.F.7
|