-
1
-
-
0027231568
-
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
-
Mulligan, L.M., Kwok, J.B., Healey, C.S., Elsdon, M.J., Eng, C., Gardner, E., Love, D.R., Mole, S.E., Moore, J.K., Papi, L., Ponder, M.A., Telenius, H., Tunnacliffe, A. Ponder, B.J. (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363, 458 460.
-
(1993)
Nature
, vol.363
, pp. 458-460
-
-
Mulligan, L.M.1
Kwok, J.B.2
Healey, C.S.3
Elsdon, M.J.4
Eng, C.5
Gardner, E.6
Love, D.R.7
Mole, S.E.8
Moore, J.K.9
Papi, L.10
Ponder, M.A.11
Telenius, H.12
Tunnacliffe, A.13
Ponder, B.J.14
-
2
-
-
0028174024
-
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
-
Hofstra, R.M., Landsvater, R.M., Ceccherini, I., Stulp, R.P., Stelwagen, T., Luo, Y., Pasini, B., Hoppener, J.W., van Amstel, H.K.P., Romeo, G., Lips, C.J.M. Buys, C.C.M. (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature, 367, 375 376.
-
(1994)
Nature
, vol.367
, pp. 375-376
-
-
Hofstra, R.M.1
Landsvater, R.M.2
Ceccherini, I.3
Stulp, R.P.4
Stelwagen, T.5
Luo, Y.6
Pasini, B.7
Hoppener, J.W.8
Van Amstel, H.K.P.9
Romeo, G.10
Lips, C.J.M.11
Buys, C.C.M.12
-
3
-
-
0033119329
-
The phenotypes associated with RET mutations in the multiple endocrine neoplasia type 2 syndromes
-
Ponder, B.A. (1999) The phenotypes associated with RET mutations in the multiple endocrine neoplasia type 2 syndromes. Cancer Research, 59, 1736 1742.
-
(1999)
Cancer Research
, vol.59
, pp. 1736-1742
-
-
Ponder, B.A.1
-
4
-
-
4644256817
-
The relationship between specific RET proto-oncogene mutation and disease phenotype in multiple endocrine neoplasia type 2
-
Eng, C., Clayton, D., Schuffenecker, I., Lenoir, G., Cote, G., Gagel, R.F., Van Amstel, H.K.P., Lips, C.J.M., Nishisho, I., Takai, S.I., Marsh, D.J., Robinson, B.G., Frank-Raue, K., Raue, F., Xue, F., Noll, W.W., Romei, C., Pacini, F., Fink, M., Niederle, B., Zedenius, J., Nordenskjöld, M., Komminoth, P., Hendy, G.N., Gharib, H., Thibodeau, S.N., Lacroix, A. Frilling, A. (1996) The relationship between specific RET proto-oncogene mutation and disease phenotype in multiple endocrine neoplasia type 2. Journal of the American Medical Association, 276, 1575 1579.
-
(1996)
Journal of the American Medical Association
, vol.276
, pp. 1575-1579
-
-
Eng, C.1
Clayton, D.2
Schuffenecker, I.3
Lenoir, G.4
Cote, G.5
Gagel, R.F.6
Van Amstel, H.K.P.7
Lips, C.J.M.8
Nishisho, I.9
Takai, S.I.10
Marsh, D.J.11
Robinson, B.G.12
Frank-Raue, K.13
Raue, F.14
Xue, F.15
Noll, W.W.16
Romei, C.17
Pacini, F.18
Fink, M.19
Niederle, B.20
Zedenius, J.21
Nordenskjöld, M.22
Komminoth, P.23
Hendy, G.N.24
Gharib, H.25
Thibodeau, S.N.26
Lacroix, A.27
Frilling, A.28
more..
-
5
-
-
0028881998
-
Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium
-
Mulligan, L.M., Marsh, D.J., Robinson, B.G., Schuffeenecker, I., Zedenius, J., Lips, C.J.M., Gagel, R.F., Takai, S.I., Noll, W.W., Fink, M., Raue, F., Lacroix, A., Thibodeau, S.N., Frilling, A., Ponder, B.A.J. Eng, C. (1995) Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. Journal of Internal Medicine, 238, 343 346.
-
(1995)
Journal of Internal Medicine
, vol.238
, pp. 343-346
-
-
Mulligan, L.M.1
Marsh, D.J.2
Robinson, B.G.3
Schuffeenecker, I.4
Zedenius, J.5
Lips, C.J.M.6
Gagel, R.F.7
Takai, S.I.8
Noll, W.W.9
Fink, M.10
Raue, F.11
Lacroix, A.12
Thibodeau, S.N.13
Frilling, A.14
Ponder, B.A.J.15
Eng, C.16
-
6
-
-
17944370976
-
Familial medullary thyroid carcinoma with noncysteine RET mutations: Phenotype-genotype relationship in a large series of patients
-
Niccoli-Sire, P., Murat, A., Rohmer, V., Frank, S., Chabrier, G., Baldet, L., Maes, B., Savagner, F., Giraud, S., Bezieau, S., Kottler, M.L., Morange, S. Conte-Devolx, B. (2001) Familial medullary thyroid carcinoma with noncysteine RET mutations: phenotype-genotype relationship in a large series of patients. Journal of Clinical Endocrinology and Metabolism, 86, 3746 3753.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 3746-3753
-
-
Niccoli-Sire, P.1
Murat, A.2
Rohmer, V.3
Frank, S.4
Chabrier, G.5
Baldet, L.6
Maes, B.7
Savagner, F.8
Giraud, S.9
Bezieau, S.10
Kottler, M.L.11
Morange, S.12
Conte-Devolx, B.13
-
7
-
-
0035048305
-
Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: Oncological features and biochemical properties
-
Machens, A., Gimm, O., Hinze, R., Hoppner, W., Boehm, B.O. Dralle, H. (2001) Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. Journal of Clinical Endocrinology and Metabolism, 86, 1104 1109.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 1104-1109
-
-
MacHens, A.1
Gimm, O.2
Hinze, R.3
Hoppner, W.4
Boehm, B.O.5
Dralle, H.6
-
8
-
-
85047682409
-
Consensus: Guidelines for diagnosis and therapy of MEN type 1 and type 2
-
Brandi, M.L., Gagel, R.F., Angeli, A., Bilezikian, J.P., Beck-Peccoz, P., Bordi, C., Conte-Devox, B., Falchetti, A., Gheri, R.G., Lobroia, A., Lips, C.J.M., Lombardi, G., Mannelli, M., Pacini, F., Ponder, B.A.J., Raue, F., Skogseid, B., Tamburrano, G., Thakker, R.V., Thompson, N.W., Tomassetti, P., Tonelli, F., Wells, S.A., J.R. Marx, S.J. (2001) Consensus: Guidelines for diagnosis and therapy of MEN type 1 and type 2. Journal of Clinical Endocrinology and Metabolism, 86, 5658 5671.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 5658-5671
-
-
Brandi, M.L.1
Gagel, R.F.2
Angeli, A.3
Bilezikian, J.P.4
Beck-Peccoz, P.5
Bordi, C.6
Conte-Devox, B.7
Falchetti, A.8
Gheri, R.G.9
Lobroia, A.10
Lips, C.J.M.11
Lombardi, G.12
Mannelli, M.13
Pacini, F.14
Ponder, B.A.J.15
Raue, F.16
Skogseid, B.17
Tamburrano, G.18
Thakker, R.V.19
Thompson, N.W.20
Tomassetti, P.21
Tonelli, F.22
Wells, S.A.J.R.23
Marx, S.J.24
more..
-
9
-
-
0031008810
-
Genetic testing in medullary thyroid carcinoma syndromes: Mutation types and clinical significance
-
Heshmati, H.M., Gharib, H.G., Khosla, S., Abu-Lebdeh, H.S., Lindor, N.M. Thibodeau, S.N. (1997) Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clinic Proceedings, 72, 430 436.
-
(1997)
Mayo Clinic Proceedings
, vol.72
, pp. 430-436
-
-
Heshmati, H.M.1
Gharib, H.G.2
Khosla, S.3
Abu-Lebdeh, H.S.4
Lindor, N.M.5
Thibodeau, S.N.6
-
10
-
-
0030949872
-
RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma
-
Marsh, D.J., Mulligan, M.L. Eng, C. (1997) RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. Hormone Research, 47, 168 178.
-
(1997)
Hormone Research
, vol.47
, pp. 168-178
-
-
Marsh, D.J.1
Mulligan, M.L.2
Eng, C.3
-
11
-
-
0028199074
-
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
-
Mulligan, L.M., Eng, C., Healey, C.S., Clayton, D., Kwok, J.B.J., Gardner, E., Ponder, M.A., Frilling, A., Jackson, C.E., Lehnert, H., Neumann, H.P.H., Thibodeau, S.N. Ponder, B.A.J. (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genetics, 6, 70 74.
-
(1994)
Nature Genetics
, vol.6
, pp. 70-74
-
-
Mulligan, L.M.1
Eng, C.2
Healey, C.S.3
Clayton, D.4
Kwok, J.B.J.5
Gardner, E.6
Ponder, M.A.7
Frilling, A.8
Jackson, C.E.9
Lehnert, H.10
Neumann, H.P.H.11
Thibodeau, S.N.12
Ponder, B.A.J.13
-
12
-
-
0030722592
-
Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation
-
Gimm, O., Marsh, D.J., Andrew, S.D., Frilling, A., Dahia, P.L., Mulligan, L.M., Zajac, J.D., Robinson, B.G. Eng, C. (1997) Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. Journal of Clinical Endocrinology and Metabolism, 82, 3902 3904.
-
(1997)
Journal of Clinical Endocrinology and Metabolism
, vol.82
, pp. 3902-3904
-
-
Gimm, O.1
Marsh, D.J.2
Andrew, S.D.3
Frilling, A.4
Dahia, P.L.5
Mulligan, L.M.6
Zajac, J.D.7
Robinson, B.G.8
Eng, C.9
-
13
-
-
0030828048
-
Germline mutation of RET codon 883 in two cases of de novo MEN 2B
-
Smith, D.P., Houghton, C. Ponder, B.A. (1997) Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene, 15, 1213 1217.
-
(1997)
Oncogene
, vol.15
, pp. 1213-1217
-
-
Smith, D.P.1
Houghton, C.2
Ponder, B.A.3
-
14
-
-
0037629965
-
RET codon 634 mutations in multiple endocrine neoplasia type 2: Variable clinical features and clinical outcome
-
Punales, M.K., Graf, H., Gross, J.L. Maia, A.L. (2003) RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome. Journal of Clinical Endocrinology and Metabolism, 88, 2644 2649.
-
(2003)
Journal of Clinical Endocrinology and Metabolism
, vol.88
, pp. 2644-2649
-
-
Punales, M.K.1
Graf, H.2
Gross, J.L.3
Maia, A.L.4
-
15
-
-
16644397114
-
Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: Clinical manifestation and course in early and late onset disease
-
Brauckhoff, M., Gimm, O., Weiss, C.L., Ukkat, J., Sekulla, C., Brauckhoff, K., Thanh, P.N. Dralle, H. (2004) Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease. World Journal of Surgery, 28, 1305 1311.
-
(2004)
World Journal of Surgery
, vol.28
, pp. 1305-1311
-
-
Brauckhoff, M.1
Gimm, O.2
Weiss, C.L.3
Ukkat, J.4
Sekulla, C.5
Brauckhoff, K.6
Thanh, P.N.7
Dralle, H.8
-
16
-
-
0036143710
-
Medullary thyroid carcinoma as part of a multiple endocrine neoplasia type 2B syndrome
-
Leboulleux, S., Travagli, J.P., Caillou, B., Laplanche, A., Bidart, J.M., Schlumberger, M. Baudin, E. (2002) Medullary thyroid carcinoma as part of a multiple endocrine neoplasia type 2B syndrome. Cancer, 94, 44 50.
-
(2002)
Cancer
, vol.94
, pp. 44-50
-
-
Leboulleux, S.1
Travagli, J.P.2
Caillou, B.3
Laplanche, A.4
Bidart, J.M.5
Schlumberger, M.6
Baudin, E.7
-
17
-
-
0028865592
-
Primary hyperparathyroidism in multiple endocrine neoplasia type 2A
-
Raue, F., Kraimps, J.L., Dralle, H., Cougard, P., Proye, C., Frilling, A., Limbert, E., Llenas, L.F. Niederle, B. (1995) Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. Journal of Internal Medicine, 238, 369 373.
-
(1995)
Journal of Internal Medicine
, vol.238
, pp. 369-373
-
-
Raue, F.1
Kraimps, J.L.2
Dralle, H.3
Cougard, P.4
Proye, C.5
Frilling, A.6
Limbert, E.7
Llenas, L.F.8
Niederle, B.9
-
18
-
-
0031759421
-
Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma
-
Karga, H.J., Karayianni, M.K., Linos, D.A., Tseleni, S.C., Karaiskos, K.D. Papapetrou, P.D. (1998) Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma. European Journal of Endocrinology, 139, 410 415.
-
(1998)
European Journal of Endocrinology
, vol.139
, pp. 410-415
-
-
Karga, H.J.1
Karayianni, M.K.2
Linos, D.A.3
Tseleni, S.C.4
Karaiskos, K.D.5
Papapetrou, P.D.6
-
20
-
-
0033917197
-
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG→ATG) mutation
-
Feldman, G.L., Edmonds, M.W., Ainsworth, P.J., Schuffenecker, I., Lenoir, G.M., Saxe, A.W., Talpos, G.B., Roberson, J., Petrucelli, N. Jackson, C.E. (2000) Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG→ATG) mutation. Surgery, 128, 93 98.
-
(2000)
Surgery
, vol.128
, pp. 93-98
-
-
Feldman, G.L.1
Edmonds, M.W.2
Ainsworth, P.J.3
Schuffenecker, I.4
Lenoir, G.M.5
Saxe, A.W.6
Talpos, G.B.7
Roberson, J.8
Petrucelli, N.9
Jackson, C.E.10
-
21
-
-
18444380535
-
Familial medullary thyroid carcinoma: Clinical variability and low aggressiveness associated with RET mutation at codon 804
-
21Lombardo, F., Baudin, E., Chiefari, E., Arturi, F., Bardet, S., Caillou, B., Conte, C., Dallapiccola, B., Giuffrida, D., Bidart, J.M., Schlumberger, M. Filetti, S. (2002) Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804. Journal of Clinical Endocrinology and Metabolism, 87, 1674 1680.
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, pp. 1674-1680
-
-
Lombardo, F.1
Baudin, E.2
Chiefari, E.3
Arturi, F.4
Bardet, S.5
Caillou, B.6
Conte, C.7
Dallapiccola, B.8
Giuffrida, D.9
Bidart, J.M.10
Schlumberger, M.11
Filetti, S.12
|