-
1
-
-
33845234713
-
Endocrine tumor syndromes
-
In: De Groot L.J. Elsevier Saunders, Philadelphia
-
Thakker, R.V. (2006) Endocrine tumor syndromes. In : L.J. De Groot Endocrinology. Elsevier Saunders, Philadelphia, 3509 3531.
-
(2006)
Endocrinology.
, pp. 3509-3531
-
-
Thakker, R.V.1
-
2
-
-
0030963446
-
Positional cloning of the gene for multiple endocrine neoplasia-type 1
-
Chandrasekharappa, S.C., Guru, S.C., Manickam, P., Olufemi, S.E., Collins, F.S., Emmert-Buck, M.R., Debelenko, L.V., Zhuang, Z., Lubensky, I.A., Liotta, L.A., Crabtree, J.S., Wang, Y., Roe, B.A., Weisemann, J., Boguski, M.S., Agarwal, S.K., Kester, M.B., Kim, Y.S., Heppner, C., Dong, Q., Spiegel, A.M., Burns, A.L. Marx, S.J. (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science, 276, 404 407.
-
(1997)
Science
, vol.276
, pp. 404-407
-
-
Chandrasekharappa, S.C.1
Guru, S.C.2
Manickam, P.3
Olufemi, S.E.4
Collins, F.S.5
Emmert-Buck, M.R.6
Debelenko, L.V.7
Zhuang, Z.8
Lubensky, I.A.9
Liotta, L.A.10
Crabtree, J.S.11
Wang, Y.12
Roe, B.A.13
Weisemann, J.14
Boguski, M.S.15
Agarwal, S.K.16
Kester, M.B.17
Kim, Y.S.18
Heppner, C.19
Dong, Q.20
Spiegel, A.M.21
Burns, A.L.22
Marx, S.J.23
more..
-
3
-
-
8544266010
-
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. the European Consortium on MEN1
-
Lemmens, I., Van de Ven, W.J., Kas, K., Zhang, C.X., Giraud, S., Wautot, V., Buisson, N., De Witte, K., Salandre, J., Lenoir, G., Pugeat, M., Calender, A., Parente, F., Quincey, D., Gaudray, P., De Wit, M.J., Lips, C.J., Hoppener, J.W., Khodaei, S., Grant, A.L., Weber, G., Kytola, S., Teh, B.T., Farnebo, F. Thakker, R.V. (1997) Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Human Molecular Genetics, 6, 1177 1183.
-
(1997)
Human Molecular Genetics
, vol.6
, pp. 1177-1183
-
-
Lemmens, I.1
Van De Ven, W.J.2
Kas, K.3
Zhang, C.X.4
Giraud, S.5
Wautot, V.6
Buisson, N.7
De Witte, K.8
Salandre, J.9
Lenoir, G.10
Pugeat, M.11
Calender, A.12
Parente, F.13
Quincey, D.14
Gaudray, P.15
De Wit, M.J.16
Lips, C.J.17
Hoppener, J.W.18
Khodaei, S.19
Grant, A.L.20
Weber, G.21
Kytola, S.22
Teh, B.T.23
Farnebo, F.24
Thakker, R.V.25
more..
-
4
-
-
0032539632
-
Menin, the product of the MEN1 gene, is a nuclear protein
-
Guru, S.C., Goldsmith, P.K., Burns, A.L., Marx, S.J., Spiegel, A.M., Collins, F.S. Chandrasekharappa, S.C. (1998) Menin, the product of the MEN1 gene, is a nuclear protein. Proceedings of the National Academy of Sciences of the USA, 95, 1630 1634.
-
(1998)
Proceedings of the National Academy of Sciences of the USA
, vol.95
, pp. 1630-1634
-
-
Guru, S.C.1
Goldsmith, P.K.2
Burns, A.L.3
Marx, S.J.4
Spiegel, A.M.5
Collins, F.S.6
Chandrasekharappa, S.C.7
-
5
-
-
22444445436
-
Menin molecular interactions: Insights into normal functions and tumorigenesis
-
Agarwal, S.K., Kennedy, P.A., Scacheri, P.C., Novotny, E.A., Hickman, A.B., Cerrato, A., Rice, T.S., Moore, J.B., Rao, S., Ji, Y., Mateo, C., Libutti, S.K., Oliver, B., Chandrasekharappa, S.C., Burns, A.L., Collins, F.S., Spiegel, A.M. Marx, S.J. (2005) Menin molecular interactions: insights into normal functions and tumorigenesis. Hormone and Metabolic Research, 37, 369 374.
-
(2005)
Hormone and Metabolic Research
, vol.37
, pp. 369-374
-
-
Agarwal, S.K.1
Kennedy, P.A.2
Scacheri, P.C.3
Novotny, E.A.4
Hickman, A.B.5
Cerrato, A.6
Rice, T.S.7
Moore, J.B.8
Rao, S.9
Ji, Y.10
Mateo, C.11
Libutti, S.K.12
Oliver, B.13
Chandrasekharappa, S.C.14
Burns, A.L.15
Collins, F.S.16
Spiegel, A.M.17
Marx, S.J.18
-
8
-
-
0028293550
-
A family pedigree exhibiting features of both multiple endocrine neoplasia type 1 and McCune-Albright syndromes
-
O'Halloran, D.J. Shalet, S.M. (1994) A family pedigree exhibiting features of both multiple endocrine neoplasia type 1 and McCune-Albright syndromes. Journal of Clinical Endocrinology and Metabolism, 78, 523 525.
-
(1994)
Journal of Clinical Endocrinology and Metabolism
, vol.78
, pp. 523-525
-
-
O'Halloran, D.J.1
Shalet, S.M.2
-
9
-
-
0024394627
-
Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11
-
Thakker, R.V., Bouloux, P., Wooding, C., Chotai, K., Broad, P.M., Spurr, N.K., Besser, G.M. O'Riordan, J.L. (1989) Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11. New England Journal of Medicine, 321, 218 224.
-
(1989)
New England Journal of Medicine
, vol.321
, pp. 218-224
-
-
Thakker, R.V.1
Bouloux, P.2
Wooding, C.3
Chotai, K.4
Broad, P.M.5
Spurr, N.K.6
Besser, G.M.7
O'Riordan, J.L.8
-
10
-
-
17344363260
-
Characterization of mutations in patients with multiple endocrine neoplasia type 1
-
Bassett, J.H., Forbes, S.A., Pannett, A.A., Lloyd, S.E., Christie, P.T., Wooding, C., Harding, B., Besser, G.M., Edwards, C.R., Monson, J.P., Sampson, J., Wass, J.A., Wheeler, M.H. Thakker, R.V. (1998) Characterization of mutations in patients with multiple endocrine neoplasia type 1. American Journal of Human Genetics, 62, 232 244.
-
(1998)
American Journal of Human Genetics
, vol.62
, pp. 232-244
-
-
Bassett, J.H.1
Forbes, S.A.2
Pannett, A.A.3
Lloyd, S.E.4
Christie, P.T.5
Wooding, C.6
Harding, B.7
Besser, G.M.8
Edwards, C.R.9
Monson, J.P.10
Sampson, J.11
Wass, J.A.12
Wheeler, M.H.13
Thakker, R.V.14
-
11
-
-
0027161684
-
Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations
-
Thakker, R.V., Pook, M.A., Wooding, C., Boscaro, M., Scanarini, M. Clayton, R.N. (1993) Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations. Journal of Clinical Investigation, 91, 2815 2821.
-
(1993)
Journal of Clinical Investigation
, vol.91
, pp. 2815-2821
-
-
Thakker, R.V.1
Pook, M.A.2
Wooding, C.3
Boscaro, M.4
Scanarini, M.5
Clayton, R.N.6
-
12
-
-
0026865130
-
A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
-
Parkinson, D.B. Thakker, R.V. (1992) A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nature Genetics, 1, 149 152.
-
(1992)
Nature Genetics
, vol.1
, pp. 149-152
-
-
Parkinson, D.B.1
Thakker, R.V.2
-
13
-
-
0030787520
-
Improved splice site detection in Genie
-
Reese, M.G., Eeckman, F.H., Kulp, D. Haussler, D. (1997) Improved splice site detection in Genie. Journal of Computational Biology, 4, 311 323.
-
(1997)
Journal of Computational Biology
, vol.4
, pp. 311-323
-
-
Reese, M.G.1
Eeckman, F.H.2
Kulp, D.3
Haussler, D.4
-
14
-
-
1942467065
-
Genomic variants in exons and introns: Identifying the splicing spoilers
-
Pagani, F. Baralle, F.E. (2004) Genomic variants in exons and introns: identifying the splicing spoilers. Nature Reviews Genetics, 5, 389 396.
-
(2004)
Nature Reviews Genetics
, vol.5
, pp. 389-396
-
-
Pagani, F.1
Baralle, F.E.2
-
15
-
-
26944453614
-
Splicing in action: Assessing disease causing sequence changes
-
Baralle, D. Baralle, M. (2005) Splicing in action: assessing disease causing sequence changes. Journal of Medical Genetics, 42, 737 748.
-
(2005)
Journal of Medical Genetics
, vol.42
, pp. 737-748
-
-
Baralle, D.1
Baralle, M.2
-
16
-
-
33644937809
-
Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism
-
Bradley, K.J., Cavaco, B.M., Bowl, M.R., Harding, B., Young, A. Thakker, R.V. (2005) Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism. Journal of Medical Genetics, 42, e51.
-
(2005)
Journal of Medical Genetics
, vol.42
-
-
Bradley, K.J.1
Cavaco, B.M.2
Bowl, M.R.3
Harding, B.4
Young, A.5
Thakker, R.V.6
-
17
-
-
18444381455
-
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1
-
Turner, J.J., Leotlela, P.D., Pannett, A.A., Forbes, S.A., Bassett, J.H., Harding, B., Christie, P.T., Bowen-Jones, D., Ellard, S., Hattersley, A., Jackson, C.E., Pope, R., Quarrell, O.W., Trembath, R. Thakker, R.V. (2002) Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. Journal of Clinical Endocrinology and Metabolism, 87, 2688 2693.
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, pp. 2688-2693
-
-
Turner, J.J.1
Leotlela, P.D.2
Pannett, A.A.3
Forbes, S.A.4
Bassett, J.H.5
Harding, B.6
Christie, P.T.7
Bowen-Jones, D.8
Ellard, S.9
Hattersley, A.10
Jackson, C.E.11
Pope, R.12
Quarrell, O.W.13
Trembath, R.14
Thakker, R.V.15
-
18
-
-
9444254176
-
Minireview: GNAS: normal and abnormal functions
-
Weinstein, L.S., Liu, J., Sakamoto, A., Xie, T. Chen, M. (2004) Minireview: GNAS: normal and abnormal functions. Endocrinology, 145, 5459 5464.
-
(2004)
Endocrinology
, vol.145
, pp. 5459-5464
-
-
Weinstein, L.S.1
Liu, J.2
Sakamoto, A.3
Xie, T.4
Chen, M.5
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