-
1
-
-
0028331237
-
Multiple endocrine neoplasia type 1: Clinical features and screening
-
Skogseid B, Rastad J, Öberg K. Multiple endocrine neoplasia type 1: clinical features and screening. Endocrinol Metab Clin North Am 1994; 23:1-18.
-
(1994)
Endocrinol Metab Clin North Am
, vol.23
, pp. 1-18
-
-
Skogseid, B.1
Rastad, J.2
Öberg, K.3
-
2
-
-
0028258696
-
Localization and identification of the multiple endocrine neoplasia type 1 disease gene
-
Larsson C, Friedman E. Localization and identification of the multiple endocrine neoplasia type 1 disease gene. Endocrinol Metab Clin North Am 1994;23:67-79.
-
(1994)
Endocrinol Metab Clin North Am
, vol.23
, pp. 67-79
-
-
Larsson, C.1
Friedman, E.2
-
3
-
-
0028881998
-
Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium
-
Mulligan LM, Marsh DJ, Robinson BG, et al. Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med 1995;238:343-6.
-
(1995)
J Intern Med
, vol.238
, pp. 343-346
-
-
Mulligan, L.M.1
Marsh, D.J.2
Robinson, B.G.3
-
4
-
-
0027972513
-
Mutations of the RET proto-oncogene in Hirschsprung's disease
-
Edery P, Lyonnet S, Mulligan LM, et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367:378-80.
-
(1994)
Nature
, vol.367
, pp. 378-380
-
-
Edery, P.1
Lyonnet, S.2
Mulligan, L.M.3
-
5
-
-
0028120882
-
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
-
Romeo G, Ronchetto P, Luo Y, et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367:377-8.
-
(1994)
Nature
, vol.367
, pp. 377-378
-
-
Romeo, G.1
Ronchetto, P.2
Luo, Y.3
-
6
-
-
0023449599
-
Familial multiple endocrine neoplasia type 1: A new look at pathophysiology
-
Brandi ML, Marx SJ, Aurbach GD, Fitzpatrick LA. Familial multiple endocrine neoplasia type 1: a new look at pathophysiology. Endocr Rev 1987;8:391-405.
-
(1987)
Endocr Rev
, vol.8
, pp. 391-405
-
-
Brandi, M.L.1
Marx, S.J.2
Aurbach, G.D.3
Fitzpatrick, L.A.4
-
7
-
-
0024401807
-
Multiple endocrine syndrome type 1: Clinical, laboratory findings, and management in five families
-
Samaan NA, Ouais S, Ordonez NG, Choksi UA, Sellin RV, Hickey RC. Multiple endocrine syndrome type 1: clinical, laboratory findings, and management in five families. Cancer 1989;64:741-52.
-
(1989)
Cancer
, vol.64
, pp. 741-752
-
-
Samaan, N.A.1
Ouais, S.2
Ordonez, N.G.3
Choksi, U.A.4
Sellin, R.V.5
Hickey, R.C.6
-
8
-
-
0024853151
-
Screening for the multiple endocrine neoplasia syndrome type 1: A study of 11 kindreds in the Netherlands
-
Vasen HFA, Lamers CBHW, Lips CJM. Screening for the multiple endocrine neoplasia syndrome type 1: a study of 11 kindreds in the Netherlands. Arch Intern Med 1989;149:2717-22.
-
(1989)
Arch Intern Med
, vol.149
, pp. 2717-2722
-
-
Vasen, H.F.A.1
Lamers, C.B.H.W.2
Lips, C.J.M.3
-
9
-
-
0027027047
-
The importance of screening for the MEN 1 syndrome: Diagnostic results and clinical management
-
Lips CJM, Koppeschaar HPF, Berends MJH, Jansen-Schillhorn van Veen JM, Struyvenberg A, Van Vroonhoven TJ. The importance of screening for the MEN 1 syndrome: diagnostic results and clinical management. Henry Ford Hosp Med J 1992;40:171-2.
-
(1992)
Henry Ford Hosp Med J
, vol.40
, pp. 171-172
-
-
Lips, C.J.M.1
Koppeschaar, H.P.F.2
Berends, M.J.H.3
Jansen-Schillhorn Van Veen, J.M.4
Struyvenberg, A.5
Van Vroonhoven, T.J.6
-
10
-
-
0023828816
-
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma
-
Larsson C, Skogseid B, Öberg K, Nakamura Y, Nordenskjöld M. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 1988;332:85-7.
-
(1988)
Nature
, vol.332
, pp. 85-87
-
-
Larsson, C.1
Skogseid, B.2
Öberg, K.3
Nakamura, Y.4
Nordenskjöld, M.5
-
11
-
-
0021299457
-
Genetic aspects of multiple endocrine neoplasia
-
Schimke RN. Genetic aspects of multiple endocrine neoplasia. Annu Rev Med 1984;35:25-31.
-
(1984)
Annu Rev Med
, vol.35
, pp. 25-31
-
-
Schimke, R.N.1
-
12
-
-
0024569718
-
The clinical and screening age-at-onset distribution for the MEN-2 syndrome
-
Easton DF, Ponder MA, Cummings T, et al. The clinical and screening age-at-onset distribution for the MEN-2 syndrome. Am J Hum Genet 1989;44:208-15.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 208-215
-
-
Easton, D.F.1
Ponder, M.A.2
Cummings, T.3
-
13
-
-
0023858139
-
Risk estimation and screening in families of patients with medullary thyroid carcinoma
-
Ponder BAJ, Ponder MA, Coffey R, et al. Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet 1988; 1:397-401.
-
(1988)
Lancet
, vol.1
, pp. 397-401
-
-
Ponder, B.A.J.1
Ponder, M.A.2
Coffey, R.3
-
14
-
-
0014317788
-
Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid - A syndrome
-
Gorlin RJ, Sedano HO, Vickers RA, Cervenka J. Multiple mucosal neuromas, pheochromocytoma and medullary carcinoma of the thyroid - a syndrome. Cancer 1968;22:293-9.
-
(1968)
Cancer
, vol.22
, pp. 293-299
-
-
Gorlin, R.J.1
Sedano, H.O.2
Vickers, R.A.3
Cervenka, J.4
-
15
-
-
0022535165
-
Familial medullary thyroid carcinoma without associated endocrinopathies: A distinct clinical entity
-
Farndon JR, Leight GS, Dilley WG, et al. Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br J Surg 1986;73:278-81.
-
(1986)
Br J Surg
, vol.73
, pp. 278-281
-
-
Farndon, J.R.1
Leight, G.S.2
Dilley, W.G.3
-
16
-
-
0024456602
-
Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis
-
Gagel RF, Levy ML, Donovan DT, Alford BR, Wheeler T, Tschen JA. Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med 1989;111:802-6.
-
(1989)
Ann Intern Med
, vol.111
, pp. 802-806
-
-
Gagel, R.F.1
Levy, M.L.2
Donovan, D.T.3
Alford, B.R.4
Wheeler, T.5
Tschen, J.A.6
-
18
-
-
0018844676
-
Clinical characteristics distinguishing hereditary from sporadic medullary thyroid carcinoma: Treatment implications
-
Block MA, Jackson CE, Greenawald KA, Yott JB, Tashjian AH Jr. Clinical characteristics distinguishing hereditary from sporadic medullary thyroid carcinoma: treatment implications. Arch Surg 1980;115:142-8.
-
(1980)
Arch Surg
, vol.115
, pp. 142-148
-
-
Block, M.A.1
Jackson, C.E.2
Greenawald, K.A.3
Yott, J.B.4
Tashjian Jr., A.H.5
-
19
-
-
0028088256
-
Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A
-
Lips CJM, Lansvater RM, Höppener JWM, et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 1994;331:828-35.
-
(1994)
N Engl J Med
, vol.331
, pp. 828-835
-
-
Lips, C.J.M.1
Lansvater, R.M.2
Höppener, J.W.M.3
-
20
-
-
9044232867
-
The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families
-
Marsh DJ, McDowall D, Hyland VJ, et al. The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families. Clin Endocrinol (Oxf) 1996;44: 213-20.
-
(1996)
Clin Endocrinol (Oxf)
, vol.44
, pp. 213-220
-
-
Marsh, D.J.1
McDowall, D.2
Hyland, V.J.3
-
21
-
-
0028061726
-
Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A
-
Wells SA Jr, Chi DD, Toshima K, et al. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 1994;220:237-50.
-
(1994)
Ann Surg
, vol.220
, pp. 237-250
-
-
Wells Jr., S.A.1
Chi, D.D.2
Toshima, K.3
-
22
-
-
0027300177
-
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2
-
Gardner E, Papi L, Easton DF, et al. Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2. Hum Mol Genet 1993;2:241-6.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 241-246
-
-
Gardner, E.1
Papi, L.2
Easton, D.F.3
-
23
-
-
0027232451
-
Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2
-
Mole SE, Mulligan LM, Healey CS, Ponder BAJ, Tunnacliffe A. Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2. Hum Mol Genet 1993;2: 247-52.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 247-252
-
-
Mole, S.E.1
Mulligan, L.M.2
Healey, C.S.3
Ponder, B.A.J.4
Tunnacliffe, A.5
-
24
-
-
12044258692
-
Structural analysis of the human ret proto-oncogene by exon trapping
-
Kwok JBJ, Gardner E, Warner JP, Ponder BAJ, Mulligan LM. Structural analysis of the human ret proto-oncogene by exon trapping. Oncogene 1993;8:2575-82.
-
(1993)
Oncogene
, vol.8
, pp. 2575-2582
-
-
Kwok, J.B.J.1
Gardner, E.2
Warner, J.P.3
Ponder, B.A.J.4
Mulligan, L.M.5
-
25
-
-
0027965639
-
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene
-
Erratum, Oncogene 1995;10:1257
-
Ceccherini I, Hofstra RMW, Luo Y, et al. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 1994;9:3025-9. [Erratum, Oncogene 1995;10:1257]
-
(1994)
Oncogene
, vol.9
, pp. 3025-3029
-
-
Ceccherini, I.1
Hofstra, R.M.W.2
Luo, Y.3
-
26
-
-
0028862490
-
Characterization of RET proto-oncogene 3′ splicing variants and polyadenylation sites: A novel C-terminus for RET
-
Myers SM, Eng C, Ponder BAJ, Mulligan LM. Characterization of RET proto-oncogene 3′ splicing variants and polyadenylation sites: a novel C-terminus for RET. Oncogene 1995;11:2039-45.
-
(1995)
Oncogene
, vol.11
, pp. 2039-2045
-
-
Myers, S.M.1
Eng, C.2
Ponder, B.A.J.3
Mulligan, L.M.4
-
27
-
-
0025000865
-
The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas
-
Santoro M, Rosati R, Grieco M, et al. The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. Oncogene 1990;5:1595-8.
-
(1990)
Oncogene
, vol.5
, pp. 1595-1598
-
-
Santoro, M.1
Rosati, R.2
Grieco, M.3
-
28
-
-
0028227510
-
Expression of the ret proto-oncogene product in human normal and neoplastic tissues of neural crest origin
-
Nakamura T, Ishizaka Y, Nagao M, Hara M, Ishikawa T. Expression of the ret proto-oncogene product in human normal and neoplastic tissues of neural crest origin. J Pathol 1994;172:255-60.
-
(1994)
J Pathol
, vol.172
, pp. 255-260
-
-
Nakamura, T.1
Ishizaka, Y.2
Nagao, M.3
Hara, M.4
Ishikawa, T.5
-
29
-
-
0026639821
-
Triggering signaling cascades by receptor tyrosine kinases
-
Pazin MJ, Williams LT. Triggering signaling cascades by receptor tyrosine kinases. Trends Biochem Sci 1992;17:374-8.
-
(1992)
Trends Biochem Sci
, vol.17
, pp. 374-378
-
-
Pazin, M.J.1
Williams, L.T.2
-
30
-
-
0027231568
-
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
-
Mulligan LM, Kwok JBJ, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993;363:458-60.
-
(1993)
Nature
, vol.363
, pp. 458-460
-
-
Mulligan, L.M.1
Kwok, J.B.J.2
Healey, C.S.3
-
31
-
-
0027303248
-
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
-
Donis-Keller H, Dou S, Chi D, et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 1993;2:851-6.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 851-856
-
-
Donis-Keller, H.1
Dou, S.2
Chi, D.3
-
32
-
-
0028199074
-
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
-
Mulligan LM, Eng C, Healey CS, et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 1994;6:70-4.
-
(1994)
Nat Genet
, vol.6
, pp. 70-74
-
-
Mulligan, L.M.1
Eng, C.2
Healey, C.S.3
-
33
-
-
0028314385
-
Gcrmline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests
-
Xue F, Yu H, Maurer LH, et al. Gcrmline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Hum Mol Genet 1994;3:635-8.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 635-638
-
-
Xue, F.1
Yu, H.2
Maurer, L.H.3
-
34
-
-
0028101170
-
Somatic and MEN 2A de navo mutations identified in the RET proto-oncogene by screening of sporadic MTG:s
-
Zedenius J, Wallin G, Hamberger B, Nordenskjöld M, Weber G, Larsson C. Somatic and MEN 2A de navo mutations identified in the RET proto-oncogene by screening of sporadic MTG:s. Hum Mol Genet 1994;3: 1259-62.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1259-1262
-
-
Zedenius, J.1
Wallin, G.2
Hamberger, B.3
Nordenskjöld, M.4
Weber, G.5
Larsson, C.6
-
35
-
-
0028027543
-
RET proto-oncogene mutations in French MEN 2A and FMTC families
-
Schuffenecker I, Billaud M, Calender A, et al. RET proto-oncogene mutations in French MEN 2A and FMTC families. Hum Mol Genet 1994; 3:1939-43.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1939-1943
-
-
Schuffenecker, I.1
Billaud, M.2
Calender, A.3
-
36
-
-
0028095123
-
A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families
-
Marsh DJ, Robinson BG, Andrew S, et al. A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families. Genomics 1994;23:477-9.
-
(1994)
Genomics
, vol.23
, pp. 477-479
-
-
Marsh, D.J.1
Robinson, B.G.2
Andrew, S.3
-
37
-
-
51249162117
-
Molecular diagnosis of multiple endocrine neoplasia (MEN) in paraffin-embedded specimens
-
Komminoth P, Muletta-Feurer S, Saremaslani P, et al. Molecular diagnosis of multiple endocrine neoplasia (MEN) in paraffin-embedded specimens. Endocr Pathol 1995;6:267-78.
-
(1995)
Endocr Pathol
, vol.6
, pp. 267-278
-
-
Komminoth, P.1
Muletta-Feurer, S.2
Saremaslani, P.3
-
38
-
-
0030060475
-
Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: Two novel mutations and one de novo mutation for MEN 2A
-
Landsvater RM, Jansen RPM, Hofstra RMW, Buys CHCM, Lips CJM, van Amstel HKP. Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A. Hum Genet 1996;97:11-4.
-
(1996)
Hum Genet
, vol.97
, pp. 11-14
-
-
Landsvater, R.M.1
Jansen, R.P.M.2
Hofstra, R.M.W.3
Buys, C.H.C.M.4
Lips, C.J.M.5
Van Amstel, H.K.P.6
-
39
-
-
0028914683
-
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B
-
Santoro M, Carlomagno F, Romano A, et al. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 1995;267:381-3.
-
(1995)
Science
, vol.267
, pp. 381-383
-
-
Santoro, M.1
Carlomagno, F.2
Romano, A.3
-
40
-
-
0028838086
-
Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations
-
Asai N, Iwashita T, Matsuyama M, Takahashi M. Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol 1995;15:1613-9.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 1613-1619
-
-
Asai, N.1
Iwashita, T.2
Matsuyama, M.3
Takahashi, M.4
-
41
-
-
13344286328
-
RET activation by germline MEN2A and MEN2B mutations
-
Borrello MG, Smith DP, Pasini B, et al. RET activation by germline MEN2A and MEN2B mutations. Oncogene 1995;11:2419-27.
-
(1995)
Oncogene
, vol.11
, pp. 2419-2427
-
-
Borrello, M.G.1
Smith, D.P.2
Pasini, B.3
-
42
-
-
0028174024
-
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
-
Hofstra RMW, Landsvater RM, Ceccherini I, et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994;367:375-6.
-
(1994)
Nature
, vol.367
, pp. 375-376
-
-
Hofstra, R.M.W.1
Landsvater, R.M.2
Ceccherini, I.3
-
43
-
-
0028006092
-
Point mutation within the tyrosine kinasc domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours
-
Erratum, Hum Mol Genet 1994;3:686
-
Eng C, Smith DP, Mulligan LM, et al. Point mutation within the tyrosine kinasc domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 1994;3: 237-41. [Erratum, Hum Mol Genet 1994;3:686.]
-
(1994)
Hum Mol Genet
, vol.3
, pp. 237-241
-
-
Eng, C.1
Smith, D.P.2
Mulligan, L.M.3
-
44
-
-
0027977002
-
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B
-
Carlson KM, Dou S, Chi D, et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci U S A 1994;91: 1579-83.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 1579-1583
-
-
Carlson, K.M.1
Dou, S.2
Chi, D.3
-
45
-
-
0028953446
-
Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families
-
Rossel M, Schuffenecker I, Schlumberger M, et al. Detection of a germline mutation at codon 918 of the RET proto-oncogene in French MEN 2B families. Hum Genet 1995;95:403-6.
-
(1995)
Hum Genet
, vol.95
, pp. 403-406
-
-
Rossel, M.1
Schuffenecker, I.2
Schlumberger, M.3
-
46
-
-
0028938721
-
Catalytic specificity of protein-tyrosine kinases is critical for selective signalling
-
Zhou S, Carraway KL III, Eck MJ, et al. Catalytic specificity of protein-tyrosine kinases is critical for selective signalling. Nature 1995;373: 536-9.
-
(1995)
Nature
, vol.373
, pp. 536-539
-
-
Zhou, S.1
Carraway III, K.L.2
Eck, M.J.3
-
47
-
-
0029588614
-
No mutation at codon 918 of the RET gene in a family with multiple endocrine neoplasia type 2B
-
Toogood AA, Eng C, Smith DP, Ponder BAJ, Shalet SM. No mutation at codon 918 of the RET gene in a family with multiple endocrine neoplasia type 2B. Clin Endocrinol (Oxf) 1995;43:759-62.
-
(1995)
Clin Endocrinol (Oxf)
, vol.43
, pp. 759-762
-
-
Toogood, A.A.1
Eng, C.2
Smith, D.P.3
Ponder, B.A.J.4
Shalet, S.M.5
-
48
-
-
0023885305
-
The protein kinase family: Conserved features and deduced phylogeny of the catalytic domains
-
Hanks SK, Quinn AM, Hunter T. The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science 1988; 241:42-52.
-
(1988)
Science
, vol.241
, pp. 42-52
-
-
Hanks, S.K.1
Quinn, A.M.2
Hunter, T.3
-
49
-
-
0028838075
-
A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC
-
Eng C, Smith DP, Mulligan LM, et al. A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene 1995;10:509-13.
-
(1995)
Oncogene
, vol.10
, pp. 509-513
-
-
Eng, C.1
Smith, D.P.2
Mulligan, L.M.3
-
50
-
-
0029002147
-
RET mutations in exons 13 and 14 of FMTC patients
-
Bolino A, Schuffenecker I, Luo Y, et al. RET mutations in exons 13 and 14 of FMTC patients. Oncogene 1995;10:2415-9.
-
(1995)
Oncogene
, vol.10
, pp. 2415-2419
-
-
Bolino, A.1
Schuffenecker, I.2
Luo, Y.3
-
51
-
-
0028838578
-
Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas
-
Zedenius J, Larsson C, Bergholm U, et al. Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas. J Clin Endocrinol Metab 1995;80:3088-90.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3088-3090
-
-
Zedenius, J.1
Larsson, C.2
Bergholm, U.3
-
52
-
-
0028196667
-
Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families
-
McMahon R, Mulligan LM, Healey CS, et al. Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families. Hum Mol Genet 1994;3:643-6.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 643-646
-
-
McMahon, R.1
Mulligan, L.M.2
Healey, C.S.3
-
53
-
-
0029090153
-
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II
-
Neumann HPH, Eng C, Mulligan LM, et al. Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA 1995;274:1149-51.
-
(1995)
JAMA
, vol.274
, pp. 1149-1151
-
-
Neumann, H.P.H.1
Eng, C.2
Mulligan, L.M.3
-
55
-
-
9344234978
-
Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype
-
Frank-Raue K, Höppner W, Frilling A, et al. Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. J Clin Endocrinol Metab 1996;81:1780-3.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1780-1783
-
-
Frank-Raue, K.1
Höppner, W.2
Frilling, A.3
-
56
-
-
0023892913
-
Family screening in medullary thyroid carcinoma presenting without a family history
-
Ponder BAJ, Finer N, Coffey R, et al. Family screening in medullary thyroid carcinoma presenting without a family history. Q J Med 1988;67: 299-308.
-
(1988)
Q J Med
, vol.67
, pp. 299-308
-
-
Ponder, B.A.J.1
Finer, N.2
Coffey, R.3
-
57
-
-
0029028664
-
Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma
-
Eng C, Mulligan LM, Smith DP, et al. Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin Endocrinol (Oxf) 1995;43:123-7.
-
(1995)
Clin Endocrinol (Oxf)
, vol.43
, pp. 123-127
-
-
Eng, C.1
Mulligan, L.M.2
Smith, D.P.3
-
58
-
-
0029164449
-
Progress in genetic screening of multiple endocrine neoplasia type 2A: Is calcitonin testing obsolete?
-
Decker RA, Peacock ML, Borst MJ, Sweet JD, Thompson NW. Progress in genetic screening of multiple endocrine neoplasia type 2A: is calcitonin testing obsolete? Surgery 1995;118:257-64.
-
(1995)
Surgery
, vol.118
, pp. 257-264
-
-
Decker, R.A.1
Peacock, M.L.2
Borst, M.J.3
Sweet, J.D.4
Thompson, N.W.5
-
59
-
-
0027181632
-
The role of gene mutations in the genesis of familial cancers
-
Eng C, Ponder BAJ. The role of gene mutations in the genesis of familial cancers. FASEB J 1993;7:910-9.
-
(1993)
FASEB J
, vol.7
, pp. 910-919
-
-
Eng, C.1
Ponder, B.A.J.2
-
60
-
-
0025741681
-
Von Hippel-Lindau disease: A genetic study
-
Maher ER, Iselius L, Yates JRW, et al. Von Hippel-Lindau disease: a genetic study. J Med Genet 1991;28:443-7.
-
(1991)
J Med Genet
, vol.28
, pp. 443-447
-
-
Maher, E.R.1
Iselius, L.2
Yates, J.R.W.3
-
61
-
-
0027240519
-
Identification of the von Hippel-Lindau disease tumor suppressor gene
-
Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-20.
-
(1993)
Science
, vol.260
, pp. 1317-1320
-
-
Latif, F.1
Tory, K.2
Gnarra, J.3
-
62
-
-
0028030581
-
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype
-
Crossey PA, Richards FM, Foster K, et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet 1994;3:1303-8.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1303-1308
-
-
Crossey, P.A.1
Richards, F.M.2
Foster, K.3
-
63
-
-
0028981766
-
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype
-
Chen F, Kishida T, Yao M, et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 1995;5:66-75.
-
(1995)
Hum Mutat
, vol.5
, pp. 66-75
-
-
Chen, F.1
Kishida, T.2
Yao, M.3
-
64
-
-
0028788184
-
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas
-
Eng C, Crossey PA, Mulligan LM, et al. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet 1995;32:934-7.
-
(1995)
J Med Genet
, vol.32
, pp. 934-937
-
-
Eng, C.1
Crossey, P.A.2
Mulligan, L.M.3
-
65
-
-
0028788972
-
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma
-
Crassey PA, Eng C, Ginalska-Malinowska M, et al. Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. J Med Genet 1995;32:885-6.
-
(1995)
J Med Genet
, vol.32
, pp. 885-886
-
-
Crassey, P.A.1
Eng, C.2
Ginalska-Malinowska, M.3
-
66
-
-
33751118285
-
Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease
-
Okamoto E, Ueda T. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. J Pediatr Surg 1967;2:437-43.
-
(1967)
J Pediatr Surg
, vol.2
, pp. 437-443
-
-
Okamoto, E.1
Ueda, T.2
-
67
-
-
0014210694
-
The genetics of Hirschsprung's disease: Evidence for heterogeneous etiology and a study of sixty-three families
-
Passarge E. The genetics of Hirschsprung's disease: evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med 1967; 276:138-43.
-
(1967)
N Engl J Med
, vol.276
, pp. 138-143
-
-
Passarge, E.1
-
68
-
-
0027378022
-
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease
-
Luo Y, Ceccherini I, Pasini B, et al. Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum Mol Genet 1993;2:1803-8.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1803-1808
-
-
Luo, Y.1
Ceccherini, I.2
Pasini, B.3
-
69
-
-
0028329089
-
Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): A further link with the neurocristopathies
-
Fewtrell MS, Tam PKH, Thomson AH, et al. Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies. J Med Genet 1994;31:325-7.
-
(1994)
J Med Genet
, vol.31
, pp. 325-327
-
-
Fewtrell, M.S.1
Tam, P.K.H.2
Thomson, A.H.3
-
70
-
-
0027185569
-
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
-
Lyonnet S, Bolino A, Pelet A, et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet 1993;4: 346-50.
-
(1993)
Nat Genet
, vol.4
, pp. 346-350
-
-
Lyonnet, S.1
Bolino, A.2
Pelet, A.3
-
71
-
-
0027219581
-
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
-
Angrist M, Kauffman E, Slaugenhaupt SA, et al. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet 1993;4:351-6.
-
(1993)
Nat Genet
, vol.4
, pp. 351-356
-
-
Angrist, M.1
Kauffman, E.2
Slaugenhaupt, S.A.3
-
72
-
-
0027374562
-
Expression of the c-ret proto-oncogene during mouse embryogenesis
-
Pachnis V, Mankoo B, Costantini F. Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 1993;119:1005-17.
-
(1993)
Development
, vol.119
, pp. 1005-1017
-
-
Pachnis, V.1
Mankoo, B.2
Costantini, F.3
-
73
-
-
0028174023
-
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
-
Schuchardt A, D'Agati V, Larsson-Blomberg L, Costantini F, Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 1994;367:380-3.
-
(1994)
Nature
, vol.367
, pp. 380-383
-
-
Schuchardt, A.1
D'Agati, V.2
Larsson-Blomberg, L.3
Costantini, F.4
Pachnis, V.5
-
74
-
-
0029119781
-
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
-
Attié T, Pelet A, Edery P, et al. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 1995;4:1381-6.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1381-1386
-
-
Attié, T.1
Pelet, A.2
Edery, P.3
-
75
-
-
0029069528
-
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
-
Angrist M, Bolk S, Thiel B, et al. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 1995;4:821-30.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 821-830
-
-
Angrist, M.1
Bolk, S.2
Thiel, B.3
-
76
-
-
0028138537
-
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease
-
Yin L, Barone V, Seri M, et al. Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. Eur J Hum Genet 1994;2:272-80.
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 272-280
-
-
Yin, L.1
Barone, V.2
Seri, M.3
-
77
-
-
0029050368
-
Loss of function effect of RET mutations causing Hirschsprung disease
-
Pasini B, Borrello MG, Greco A, et al. Loss of function effect of RET mutations causing Hirschsprung disease. Nat Genet 1995;10:35-40.
-
(1995)
Nat Genet
, vol.10
, pp. 35-40
-
-
Pasini, B.1
Borrello, M.G.2
Greco, A.3
-
79
-
-
0020314519
-
Hirschsprung's disease in a family with multiple endocrine neoplasia type 2
-
Verdy M, Weber AM, Roy CC, Morin CL, Cadotte M, Brochu P. Hirschsprung's disease in a family with multiple endocrine neoplasia type 2. J Pediatr Gastroenterol Nutr 1982;1:603-7.
-
(1982)
J Pediatr Gastroenterol Nutr
, vol.1
, pp. 603-607
-
-
Verdy, M.1
Weber, A.M.2
Roy, C.C.3
Morin, C.L.4
Cadotte, M.5
Brochu, P.6
-
80
-
-
0028566385
-
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
-
Mulligan LM, Eng C, Attié T, et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 1994;3:2163-7.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2163-2167
-
-
Mulligan, L.M.1
Eng, C.2
Attié, T.3
-
81
-
-
0028916234
-
Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease
-
Borst MJ, VanCamp JM, Peacock ML, Decker RA. Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. Surgery 1995;117:386-91.
-
(1995)
Surgery
, vol.117
, pp. 386-391
-
-
Borst, M.J.1
VanCamp, J.M.2
Peacock, M.L.3
Decker, R.A.4
-
82
-
-
13344270364
-
Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma
-
Marsh DJ, Andrew SD, Eng C, et al. Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma. Cancer Res 1996;56:1241-3.
-
(1996)
Cancer Res
, vol.56
, pp. 1241-1243
-
-
Marsh, D.J.1
Andrew, S.D.2
Eng, C.3
-
83
-
-
0029944584
-
Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma
-
Eng C, Mulligan LM, Healey CS, et al. Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma. Cancer Res 1996;56:2167-70.
-
(1996)
Cancer Res
, vol.56
, pp. 2167-2170
-
-
Eng, C.1
Mulligan, L.M.2
Healey, C.S.3
-
84
-
-
85004415578
-
A novel point mutation of the RET proto-oncogene in small cell lung carcinoma cell lines
-
Futami H, Egawa S-I, Yamaguchi K. A novel point mutation of the RET proto-oncogene in small cell lung carcinoma cell lines. Proc Jpn Acad 1994;70B:210-4.
-
(1994)
Proc Jpn Acad
, vol.70 B
, pp. 210-214
-
-
Futami, H.1
Egawa, S.-I.2
Yamaguchi, K.3
-
85
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
-
Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994;79:1257-66.
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
Hosoda, K.2
Washington, S.S.3
-
86
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
Edery P, Attie T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 1996;12:442-4.
-
(1996)
Nat Genet
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
-
87
-
-
0009675716
-
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
-
Hofstra RMW, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 1996;12:445-7.
-
(1996)
Nat Genet
, vol.12
, pp. 445-447
-
-
Hofstra, R.M.W.1
Osinga, J.2
Tan-Sindhunata, G.3
-
88
-
-
0030070810
-
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population
-
Auricchio A, Casari G, Staiano A, Ballabio A. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet 1996;5:351-4.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 351-354
-
-
Auricchio, A.1
Casari, G.2
Staiano, A.3
Ballabio, A.4
-
89
-
-
9044220230
-
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
-
Amiel J, Attie T, Jan D, et al. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet 1996;5:355-7.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 355-357
-
-
Amiel, J.1
Attie, T.2
Jan, D.3
|