-
1
-
-
2342500422
-
Molecular pathology of the MEN1 gene
-
Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis MC, Simonds WF, Mateo C, Crabtree JS, Scacheri PC, Ji Y, Novotny EA, Garrett-Beal L, Ward JM, Libutti SK, Richard Alexander H, Cerrato A, Parisi MJ, Santa Anna-A S, Oliver B, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ: Molecular pathology of the MEN1 gene. Ann NY Acad Sci 2004, 1014:189-198
-
(2004)
Ann NY Acad Sci
, vol.1014
, pp. 189-198
-
-
Agarwal, S.K.1
Lee Burns, A.2
Sukhodolets, K.E.3
Kennedy, P.A.4
Obungu, V.H.5
Hickman, A.B.6
Mullendore, M.E.7
Whitten, I.8
Skarulis, M.C.9
Simonds, W.F.10
Mateo, C.11
Crabtree, J.S.12
Scacheri, P.C.13
Ji, Y.14
Novotny, E.A.15
Garrett-Beal, L.16
Ward, J.M.17
Libutti, S.K.18
Richard Alexander, H.19
Cerrato, A.20
Parisi, M.J.21
Santa Anna, A.-S.22
Oliver, B.23
Chandrasekharappa, S.C.24
Collins, F.S.25
Spiegel, A.M.26
Marx, S.J.27
more..
-
2
-
-
0000459336
-
Multiple endocrine neoplasia type 1
-
ed 2. Edited by JP Bilezikian, R Marcus, MA Levine. San Diego, Academic Press
-
Marx SJ: Multiple endocrine neoplasia type 1. The Parathyroids, ed 2. Edited by JP Bilezikian, R Marcus, MA Levine. San Diego, Academic Press, 2002, pp 535-584
-
(2002)
The Parathyroids
, pp. 535-584
-
-
Marx, S.J.1
-
3
-
-
8544266010
-
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene
-
The European Consortium on MEN1
-
Lemmens I, Van de Ven WJ, Kas K, Zhang CX, 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 MJ, Lips CJ, Höppener JW, Khodaei S, Grant AL, Weber G, Kytölä S, Teh BT, Farnebo F, Phelan C, Hayward N, Larsson C, Pannett AAJ, Forbes SA, Bassett JHD, Thakker RV: Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet 1997, 6:1177-1183
-
(1997)
Hum Mol Genet
, 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
Höppener, J.W.18
Khodaei, S.19
Grant, A.L.20
Weber, G.21
Kytölä, S.22
Teh, B.T.23
Farnebo, F.24
Phelan, C.25
Hayward, N.26
Larsson, C.27
Pannett, A.A.J.28
Forbes, S.A.29
Bassett, J.H.D.30
Thakker, R.V.31
more..
-
4
-
-
0030963446
-
Positional cloning of the gene for multiple endocrine neoplasia-type 1
-
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ: Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997, 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..
-
5
-
-
0034457762
-
Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree
-
Kassem M, Kruse TA, Wong FK, Larsson C, Teh BT: Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. J Clin Endocrinol Metab 2000, 85:165-167
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 165-167
-
-
Kassem, M.1
Kruse, T.A.2
Wong, F.K.3
Larsson, C.4
Teh, B.T.5
-
6
-
-
14444288521
-
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism
-
Teh BT, Kytölä S, Farnebo F, Bergman L, Wong FK, Weber G, Hayward N, Larsson C, Skogseid B, Beckers A, Phelan C, Edwards M, Epstein M, Alford F, Hurley D, Grimmond S, Silins G, Walters M, Stewart C, Cardinal J, Khodaei S, Parente F, Tranebjaerg L, Jorde R, Salmela P, Menon J, Khir A, Tan TT, Chan SP, Zaini A, Khalid BAK, Sandelin K, Thompson N, Brandi M-L, Warth M, Stock J, Leisti J, Cameron D, Shepherd JJ, Öberg K, Nordenskjöld M: Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. J Clin Endocrinol Metab 1998, 83:2621-2626
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 2621-2626
-
-
Teh, B.T.1
Kytölä, S.2
Farnebo, F.3
Bergman, L.4
Wong, F.K.5
Weber, G.6
Hayward, N.7
Larsson, C.8
Skogseid, B.9
Beckers, A.10
Phelan, C.11
Edwards, M.12
Epstein, M.13
Alford, F.14
Hurley, D.15
Grimmond, S.16
Silins, G.17
Walters, M.18
Stewart, C.19
Cardinal, J.20
Khodaei, S.21
Parente, F.22
Tranebjaerg, L.23
Jorde, R.24
Salmela, P.25
Menon, J.26
Khir, A.27
Tan, T.T.28
Chan, S.P.29
Zaini, A.30
Khalid, B.A.K.31
Sandelin, K.32
Thompson, N.33
Brandi, M.-L.34
Warth, M.35
Stock, J.36
Leisti, J.37
Cameron, D.38
Shepherd, J.J.39
Öberg, K.40
Nordenskjöld, M.41
more..
-
7
-
-
0036739679
-
Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism
-
Villablanca A, Wassif WS, Smith T, Hoog A, Vierimaa O, Kassem M, Dwight T, Forsberg L, Du Q, Learoyd D, Jones K, Stranks S, Juhlin C, Teh BT, Carling T, Robinson B, Larsson C: Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. Eur J Endocrinol 2002, 147:313-322
-
(2002)
Eur J Endocrinol
, vol.147
, pp. 313-322
-
-
Villablanca, A.1
Wassif, W.S.2
Smith, T.3
Hoog, A.4
Vierimaa, O.5
Kassem, M.6
Dwight, T.7
Forsberg, L.8
Du, Q.9
Learoyd, D.10
Jones, K.11
Stranks, S.12
Juhlin, C.13
Teh, B.T.14
Carling, T.15
Robinson, B.16
Larsson, C.17
-
8
-
-
12144288720
-
Genetic testing in familial isolated hyperparathyroidism: Unexpected results and their implications
-
Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J: Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 2004, 41:155-160
-
(2004)
J Med Genet
, vol.41
, pp. 155-160
-
-
Warner, J.1
Epstein, M.2
Sweet, A.3
Singh, D.4
Burgess, J.5
Stranks, S.6
Hill, P.7
Perry-Keene, D.8
Learoyd, D.9
Robinson, B.10
Birdsey, P.11
Mackenzie, E.12
Teh, B.T.13
Prins, J.B.14
Cardinal, J.15
-
9
-
-
4043103613
-
Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism
-
Carrasco CA, Gonzalez AA, Carvajal CA, Campusano C, Oestreicher E, Arteaga E, Wohllk N, Fardella CE: Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism. J Clin Endocrinol Metab 2004, 89:4124-4129
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4124-4129
-
-
Carrasco, C.A.1
Gonzalez, A.A.2
Carvajal, C.A.3
Campusano, C.4
Oestreicher, E.5
Arteaga, E.6
Wohllk, N.7
Fardella, C.E.8
-
11
-
-
18744385803
-
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
-
Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Hoog A, Heath III H, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 2002, 32:676-680
-
(2002)
Nat Genet
, vol.32
, pp. 676-680
-
-
Carpten, J.D.1
Robbins, C.M.2
Villablanca, A.3
Forsberg, L.4
Presciuttini, S.5
Bailey-Wilson, J.6
Simonds, W.F.7
Gillanders, E.M.8
Kennedy, A.M.9
Chen, J.D.10
Agarwal, S.K.11
Sood, R.12
Jones, M.P.13
Moses, T.Y.14
Haven, C.15
Petillo, D.16
Leotlela, P.D.17
Harding, B.18
Cameron, D.19
Pannett, A.A.20
Hoog, A.21
Heath III, H.22
James-Newton, L.A.23
Robinson, B.24
Zarbo, R.J.25
Cavaco, B.M.26
Wassif, W.27
Perrier, N.D.28
Rosen, I.B.29
Kristoffersson, U.30
Turnpenny, P.D.31
Farnebo, L.O.32
Besser, G.M.33
Jackson, C.E.34
Morreau, H.35
Trent, J.M.36
Thakker, R.V.37
Marx, S.J.38
Teh, B.T.39
Larsson, C.40
Hobbs, M.R.41
more..
-
12
-
-
11144355570
-
Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene
-
Cavaco BM, Guerra L, Bradley KJ, Carvalho D, Harding B, Oliveira A, Santos MA, Sobrinho LG, Thakker RV, Leite V: Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene. J Clin Endocrinol Metab 2004, 89:1747-1752
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1747-1752
-
-
Cavaco, B.M.1
Guerra, L.2
Bradley, K.J.3
Carvalho, D.4
Harding, B.5
Oliveira, A.6
Santos, M.A.7
Sobrinho, L.G.8
Thakker, R.V.9
Leite, V.10
-
13
-
-
8744299920
-
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: Germline and somatic mutations in familial and sporadic parathyraid tumors
-
Cetani F, Pardi E, Borsari S, Viacava P, Dipollina G, Cianferotti L, Ambrogini E, Gazzerro E, Colussi G, Berti P, Miccoli P, Pinchera A, Marcocci C: Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyraid tumors. J Clin Endocrinol Metab 2004, 89:5583-5591
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5583-5591
-
-
Cetani, F.1
Pardi, E.2
Borsari, S.3
Viacava, P.4
Dipollina, G.5
Cianferotti, L.6
Ambrogini, E.7
Gazzerro, E.8
Colussi, G.9
Berti, P.10
Miccoli, P.11
Pinchera, A.12
Marcocci, C.13
-
14
-
-
0041328511
-
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumors
-
Howell VM, Haven CJ, Kahnoski K, Khoo SK, Petillo D, Chen J, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Hammje K, Dralle H, Hoang-Vu C, Gimm O, Marsh DJ, Morreau H, Teh BT: HRPT2 mutations are associated with malignancy in sporadic parathyroid tumors. J Med Genet 2003, 40:657-663
-
(2003)
J Med Genet
, vol.40
, pp. 657-663
-
-
Howell, V.M.1
Haven, C.J.2
Kahnoski, K.3
Khoo, S.K.4
Petillo, D.5
Chen, J.6
Fleuren, G.J.7
Robinson, B.G.8
Delbridge, L.W.9
Philips, J.10
Nelson, A.E.11
Krause, U.12
Hammje, K.13
Dralle, H.14
Hoang-Vu, C.15
Gimm, O.16
Marsh, D.J.17
Morreau, H.18
Teh, B.T.19
-
15
-
-
5144223335
-
A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones
-
Howell VM, Zori RT Stalker HJ, Williams C, Jesse N, Nelson AE, Robinson BG, Marsh DJ: A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones. J Pediatr 2004, 145:567
-
(2004)
J Pediatr
, vol.145
, pp. 567
-
-
Howell, V.M.1
Zori, R.T.2
Stalker, H.J.3
Williams, C.4
Jesse, N.5
Nelson, A.E.6
Robinson, B.G.7
Marsh, D.J.8
-
16
-
-
0842291514
-
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome
-
Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ: Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 2004, 89:96-102
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 96-102
-
-
Simonds, W.F.1
Robbins, C.M.2
Agarwal, S.K.3
Hendy, G.N.4
Carpten, J.D.5
Marx, S.J.6
-
17
-
-
2942513691
-
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
-
Villablanca A, Calender A, Forsberg L, Hoog A, Cheng JD, Petillo D, Bauters C, Kahnoski K, Ebeling T, Salmela P, Richardson AL, Delbridge L, Meyrier A, Proye C, Carpten JD, Teh BT, Robinson BG, Larsson C: Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet 2004, 41:e32
-
(2004)
J Med Genet
, vol.41
-
-
Villablanca, A.1
Calender, A.2
Forsberg, L.3
Hoog, A.4
Cheng, J.D.5
Petillo, D.6
Bauters, C.7
Kahnoski, K.8
Ebeling, T.9
Salmela, P.10
Richardson, A.L.11
Delbridge, L.12
Meyrier, A.13
Proye, C.14
Carpten, J.D.15
Teh, B.T.16
Robinson, B.G.17
Larsson, C.18
-
18
-
-
19944434120
-
Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome
-
Bradley KJ, Hobbs MR, Buley ID, Carpten JD, Cavaco BM, Fares JE, Laidler P, Manek S, Robbins CM, Salti IS, Thompson NW, Jackson CE, Thakker RV: Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome. J Intern Med 2005, 257:18-26
-
(2005)
J Intern Med
, vol.257
, pp. 18-26
-
-
Bradley, K.J.1
Hobbs, M.R.2
Buley, I.D.3
Carpten, J.D.4
Cavaco, B.M.5
Fares, J.E.6
Laidler, P.7
Manek, S.8
Robbins, C.M.9
Salti, I.S.10
Thompson, N.W.11
Jackson, C.E.12
Thakker, R.V.13
-
19
-
-
20044362410
-
A novel IVS2-lG>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome
-
Moon SD, Park JH, Kim EM, Kim JH, Han JH, Yoo SJ, Yoon KH, Kang MI, Lee KW, Son HY, Kang SK, Oh SJ, Kim KM, Yoon SJ, Park JG, Kim IJ, Kang HC, Hong SW, Kim KR, Cha BY: A novel IVS2-lG>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 2005, 90:878-883
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 878-883
-
-
Moon, S.D.1
Park, J.H.2
Kim, E.M.3
Kim, J.H.4
Han, J.H.5
Yoo, S.J.6
Yoon, K.H.7
Kang, M.I.8
Lee, K.W.9
Son, H.Y.10
Kang, S.K.11
Oh, S.J.12
Kim, K.M.13
Yoon, S.J.14
Park, J.G.15
Kim, I.J.16
Kang, H.C.17
Hong, S.W.18
Kim, K.R.19
Cha, B.Y.20
more..
-
20
-
-
0142213734
-
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma
-
Shattuck TM, Valimaki S, Obara T, Gaz RD, Clark OH, Shoback D, Wierman ME, Tojo K, Robbins CM. Carpten JD, Farnebo LO, Larsson C, Arnold A: Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 2003, 349:1722-1729
-
(2003)
N Engl J Med
, vol.349
, pp. 1722-1729
-
-
Shattuck, T.M.1
Valimaki, S.2
Obara, T.3
Gaz, R.D.4
Clark, O.H.5
Shoback, D.6
Wierman, M.E.7
Tojo, K.8
Robbins, C.M.9
Carpten, J.D.10
Farnebo, L.O.11
Larsson, C.12
Arnold, A.13
-
21
-
-
0036301097
-
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: Search for correlation between phenotype and the functional domains of the MEN1 protein
-
Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, Beroud C, Calender A: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Hum Mutat 2002, 20:35-47
-
(2002)
Hum Mutat
, vol.20
, pp. 35-47
-
-
Wautot, V.1
Vercherat, C.2
Lespinasse, J.3
Chambe, B.4
Lenoir, G.M.5
Zhang, C.X.6
Porchet, N.7
Cordier, M.8
Beroud, C.9
Calender, A.10
-
22
-
-
0031759392
-
Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism
-
Carling T, Correa P, Hessman O, Hedberg J, Skogseid B, Lindberg D, Rastad J, Westin G, Akerstrom G: Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism, J Clin Endocrinol Metab 1998, 83:2960-2963
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 2960-2963
-
-
Carling, T.1
Correa, P.2
Hessman, O.3
Hedberg, J.4
Skogseid, B.5
Lindberg, D.6
Rastad, J.7
Westin, G.8
Akerstrom, G.9
-
23
-
-
15144346400
-
Alterations of the MEN1 gene in sporadic parathyroid tumors
-
Farnebo F, Teh BT, Kytola S, Svensson A, Phelan C, Sandelin K, Thompson NW, Hoog A, Weber G. Famebo LO, Larsson C: Alterations of the MEN1 gene in sporadic parathyroid tumors. J Clin Enclocrinol Metab 1998, 83:2627-2630
-
(1998)
J Clin Enclocrinol Metab
, vol.83
, pp. 2627-2630
-
-
Farnebo, F.1
Teh, B.T.2
Kytola, S.3
Svensson, A.4
Phelan, C.5
Sandelin, K.6
Thompson, N.W.7
Hoog, A.8
Weber, G.9
Famebo, L.O.10
Larsson, C.11
-
24
-
-
0030755071
-
Somatic mutation of the MEN1 gene in parathyrold turnours
-
Heppner C, Kester MB, Agarwal SK, Debelenko LV, Emmert-Buck MR, Guru SC, Manickam P, Olufemi SE, Skarulis MC, Doppman JL, Alexander RH, Kim YS, Saggar SK, Lubensky IA, Zhuang Z, Liotta LA, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ: Somatic mutation of the MEN1 gene in parathyrold turnours. Nat Genet 1997, 16:375-378
-
(1997)
Nat Genet
, vol.16
, pp. 375-378
-
-
Heppner, C.1
Kester, M.B.2
Agarwal, S.K.3
Debelenko, L.V.4
Emmert-Buck, M.R.5
Guru, S.C.6
Manickam, P.7
Olufemi, S.E.8
Skarulis, M.C.9
Doppman, J.L.10
Alexander, R.H.11
Kim, Y.S.12
Saggar, S.K.13
Lubensky, I.A.14
Zhuang, Z.15
Liotta, L.A.16
Chandrasekharappa, S.C.17
Collins, F.S.18
Spiegel, A.M.19
Burns, A.L.20
Marx, S.J.21
more..
-
25
-
-
0033846048
-
Loss of heterozygosity in sporadic parathyroid tumours: Involvement of chromosome 1 and the MEN1 gene locus in 11q13
-
Dwight T, Twigg S, Delbridge L, Wong FK, Farnebo F, Richardson AL, Nelson A, Zedenius J, Philips J, Larsson C, Teh BT, Robinson B: Loss of heterozygosity in sporadic parathyroid tumours: involvement of chromosome 1 and the MEN1 gene locus in 11q13. Clin Endocrinol (Oxf) 2000, 53:85-92
-
(2000)
Clin Endocrinol (Oxf)
, vol.53
, pp. 85-92
-
-
Dwight, T.1
Twigg, S.2
Delbridge, L.3
Wong, F.K.4
Farnebo, F.5
Richardson, A.L.6
Nelson, A.7
Zedenius, J.8
Philips, J.9
Larsson, C.10
Teh, B.T.11
Robinson, B.12
-
26
-
-
0031760161
-
Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese
-
Tanaka C, Yoshimoto K, Yamada S, Nishioka H, Li S, Moritani M, Yamaoka T, Itakura M: Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese. J Clin Endocrinol Metab 1998, 83:960-965
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 960-965
-
-
Tanaka, C.1
Yoshimoto, K.2
Yamada, S.3
Nishioka, H.4
Li, S.5
Moritani, M.6
Yamaoka, T.7
Itakura, M.8
-
27
-
-
0037269342
-
Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis
-
Crepin M, Escande F, Pigny P, Buisine MP, Calender A, Porchet N, Odou MF: Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. Electrophoresis 2003, 24:26-33
-
(2003)
Electrophoresis
, vol.24
, pp. 26-33
-
-
Crepin, M.1
Escande, F.2
Pigny, P.3
Buisine, M.P.4
Calender, A.5
Porchet, N.6
Odou, M.F.7
-
28
-
-
0042131681
-
Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasiatype 1 (MEN1) or MEN1-related disorders
-
Park JH, Kim IJ, Kang HC, Lee SH, Shin Y, Kim KH, Lim SB, Kang SB, Lee K, Kim SY, Lee MS, Lee MK, Moon SD, Park JG: Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasiatype 1 (MEN1) or MEN1-related disorders. Clin Genet 2003, 64:48-53
-
(2003)
Clin Genet
, vol.64
, pp. 48-53
-
-
Park, J.H.1
Kim, I.J.2
Kang, H.C.3
Lee, S.H.4
Shin, Y.5
Kim, K.H.6
Lim, S.B.7
Kang, S.B.8
Lee, K.9
Kim, S.Y.10
Lee, M.S.11
Lee, M.K.12
Moon, S.D.13
Park, J.G.14
-
29
-
-
33646126511
-
Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene
-
Crepin M, Pigny P, Escande F, Bauters CC, Calender A, Lefevre S, Buisine MP, Porchet N, Odou MF: Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene. J Mol Endocrinol 2006, 36:369-376
-
(2006)
J Mol Endocrinol
, vol.36
, pp. 369-376
-
-
Crepin, M.1
Pigny, P.2
Escande, F.3
Bauters, C.C.4
Calender, A.5
Lefevre, S.6
Buisine, M.P.7
Porchet, N.8
Odou, M.F.9
-
30
-
-
0031045242
-
Differential loss of heterozygosity in familial, sporadic, and uremic hyperparathyroidism
-
Farnebo F, Teh BT, Dotzenrath C, Wassif WS, Svensson A, White I, Betz R, Goretzki P, Sandelin K, Farnebo LO, Larsson C: Differential loss of heterozygosity in familial, sporadic, and uremic hyperparathyroidism. Hum Genet 1997, 99:342-349
-
(1997)
Hum Genet
, vol.99
, pp. 342-349
-
-
Farnebo, F.1
Teh, B.T.2
Dotzenrath, C.3
Wassif, W.S.4
Svensson, A.5
White, I.6
Betz, R.7
Goretzki, P.8
Sandelin, K.9
Farnebo, L.O.10
Larsson, C.11
-
31
-
-
0036126496
-
Genetic and clinical characterization of sporadic cystic parathyroid tumours
-
Villablanca A, Farnebo F, Teh BT, Farnebo LO, Hoog A, Larsson C: Genetic and clinical characterization of sporadic cystic parathyroid tumours. Clin Enclocrinol (Oxf) 2002, 56:261-269
-
(2002)
Clin Enclocrinol (Oxf)
, vol.56
, pp. 261-269
-
-
Villablanca, A.1
Farnebo, F.2
Teh, B.T.3
Farnebo, L.O.4
Hoog, A.5
Larsson, C.6
-
32
-
-
0031291719
-
Detection of single-nucleoticle polymorphisms with the WAVE DNA fragment analysis system
-
Kuklin A, Munson K, Gjerde D, Haefele R, Taylor P: Detection of single-nucleoticle polymorphisms with the WAVE DNA fragment analysis system. Genet Test 1997, 1:201-206
-
(1997)
Genet Test
, vol.1
, pp. 201-206
-
-
Kuklin, A.1
Munson, K.2
Gjerde, D.3
Haefele, R.4
Taylor, P.5
-
33
-
-
18244377693
-
Interpreting epidemiological research: Blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1
-
Eng C, Brody LC, Wagner TM, Devilee P, Vijg J, Szabo C, Tavtigian SV, Nathanson KL, Ostrander E, Frank TS: Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet 2001, 38:824-833
-
(2001)
J Med Genet
, vol.38
, pp. 824-833
-
-
Eng, C.1
Brody, L.C.2
Wagner, T.M.3
Devilee, P.4
Vijg, J.5
Szabo, C.6
Tavtigian, S.V.7
Nathanson, K.L.8
Ostrander, E.9
Frank, T.S.10
-
34
-
-
0034999807
-
Denaturing high-performance liquid chromatography: A review
-
Xiao W, Oefner PJ: Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001, 17:439-474
-
(2001)
Hum Mutat
, vol.17
, pp. 439-474
-
-
Xiao, W.1
Oefner, P.J.2
-
35
-
-
0034880192
-
Rapid mutation scanning of genes associated wiih familial cancer syndromes using denaturing high-performance liquid chromatography
-
Marsh DJ, Theodosopoulos G, Howell V, Richardson AL, Benn DE, Proos AL, Eng C. Robinson BG: Rapid mutation scanning of genes associated wiih familial cancer syndromes using denaturing high-performance liquid chromatography. Neoplasia 2001, 3:236-244
-
(2001)
Neoplasia
, vol.3
, pp. 236-244
-
-
Marsh, D.J.1
Theodosopoulos, G.2
Howell, V.3
Richardson, A.L.4
Benn, D.E.5
Proos, A.L.6
Eng, C.7
Robinson, B.G.8
-
36
-
-
0036748104
-
Multiple endocrine neoplasla type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism
-
Correa P, Lundgren E, Rastad J, Akerstrom G, Westin G, Carling T: Multiple endocrine neoplasla type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism. Surgery 2002, 132:450-455
-
(2002)
Surgery
, vol.132
, pp. 450-455
-
-
Correa, P.1
Lundgren, E.2
Rastad, J.3
Akerstrom, G.4
Westin, G.5
Carling, T.6
-
37
-
-
33745979831
-
Rapid recognition of aberrant DHPLC elution profiles using the Transgenomic Navigator(TM) software
-
Colley J, Jones S, Dallosso AR, Maynard JH, Humphreys V, Dolwani S, Sampson JR, Cheadle JP: Rapid recognition of aberrant DHPLC elution profiles using the Transgenomic Navigator(TM) software, Hum Mutat 2005, 26:165
-
(2005)
Hum Mutat
, vol.26
, pp. 165
-
-
Colley, J.1
Jones, S.2
Dallosso, A.R.3
Maynard, J.H.4
Humphreys, V.5
Dolwani, S.6
Sampson, J.R.7
Cheadle, J.P.8
-
38
-
-
0037380994
-
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
-
Hogervorst FB, Nederlof PM, Gille JJ, McElgunn CJ, Grippeling M, Pruntel R, Regnerus R, van Welsem T, van Spaendonk R, Menko FH, Kluijt I, Dommering C, Verhoef S, Schouten JP, van't Veer LJ, Pals G: Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 2003, 63:1449-1453
-
(2003)
Cancer Res
, vol.63
, pp. 1449-1453
-
-
Hogervorst, F.B.1
Nederlof, P.M.2
Gille, J.J.3
McElgunn, C.J.4
Grippeling, M.5
Pruntel, R.6
Regnerus, R.7
van Welsem, T.8
van Spaendonk, R.9
Menko, F.H.10
Kluijt, I.11
Dommering, C.12
Verhoef, S.13
Schouten, J.P.14
van't Veer, L.J.15
Pals, G.16
-
39
-
-
4043114415
-
Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1
-
Kikuchi M, Ohkura N, Yamaguchi K, Obara T, Tsukada T: Gene dose mapping delineated boundaries of a large germline deletion responsible for multiple endocrine neoplasia type 1. Cancer Lett 2004, 208:81-88
-
(2004)
Cancer Lett
, vol.208
, pp. 81-88
-
-
Kikuchi, M.1
Ohkura, N.2
Yamaguchi, K.3
Obara, T.4
Tsukada, T.5
-
40
-
-
0033774112
-
Identification of MEN1 gene mutations in families with MEN1 and related disorders
-
Bergman L, Teh B, Cardinal J, Palmer J, Walters M, Shepherd J, Cameron D, Hayward N: Identification of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer 2000, 83:1009-1014
-
(2000)
Br J Cancer
, vol.83
, pp. 1009-1014
-
-
Bergman, L.1
Teh, B.2
Cardinal, J.3
Palmer, J.4
Walters, M.5
Shepherd, J.6
Cameron, D.7
Hayward, N.8
|