-
1
-
-
3843101336
-
Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene
-
Balogh K, Patocs A, Majnik J et al. Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene. J Hum Genet 2004 ; 49 : 380-6.
-
(2004)
J Hum Genet
, vol.49
, pp. 380-386
-
-
Balogh, K.1
Patocs, A.2
Majnik, J.3
-
2
-
-
17344363260
-
Characterization of mutations in patients with Multiple Endocrine Neoplasia type 1
-
Basset JHD, Forbes SA, Pannett AAJ et al. Characterization of mutations in patients with Multiple Endocrine Neoplasia type 1. Am J Hum Genet 1998 ; 62 : 232- 44.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 232-244
-
-
Basset, J.H.D.1
Forbes, S.A.2
Pannett, A.A.J.3
-
3
-
-
85047682409
-
Guidelines for diagnosis and therapy of MEN type 1 and type 2
-
Brandi ML, Gagel RF, Angeli A et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86 : 5658-71.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5658-5671
-
-
Brandi, M.L.1
Gagel, R.F.2
Angeli, A.3
-
4
-
-
85030517167
-
-
Calender A, Zhang Chang X, Porchet N, Gaudray P. Genetic abnormalities in multiple neoplasia type 1. in: Surgical Endocrinology : Gerard Doherty Btitt Skögserd, éd. Lippincott Williams & Wilkins, 2001, pp479-94.
-
Calender A, Zhang Chang X, Porchet N, Gaudray P. Genetic abnormalities in multiple neoplasia type 1. in: Surgical Endocrinology : Gerard Doherty Btitt Skögserd, éd. Lippincott Williams & Wilkins, 2001, pp479-94.
-
-
-
-
5
-
-
19944430556
-
A report of a national mutation testing service for the MEN1 gene: Clinical presentations and implications for mutation testing
-
Cardinal JW, Bergman L, Hayward N et al. A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing. J Med Genet 2005 ; 42 : 69-74.
-
(2005)
J Med Genet
, vol.42
, pp. 69-74
-
-
Cardinal, J.W.1
Bergman, L.2
Hayward, N.3
-
6
-
-
0031730065
-
The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1
-
Carty SE, Helm AK, Amico JA et al. The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1. Surg 1998 ; 124 : 1106-13.
-
(1998)
Surg
, vol.124
, pp. 1106-1113
-
-
Carty, S.E.1
Helm, A.K.2
Amico, J.A.3
-
7
-
-
0030963446
-
Positional cloning of the gene for multiple endocrine neoplasia-type 1
-
Chandrasekharappa S, Guru S, Manickam P et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997 ; 276 : 404-7.
-
(1997)
Science
, vol.276
, pp. 404-407
-
-
Chandrasekharappa, S.1
Guru, S.2
Manickam, P.3
-
8
-
-
0037269342
-
Efficient mutation in MEN1 gene using a combination of single-strand conformational polymorphism (MDGA™) and heteroduplex analysis
-
Crépin M, Escande F, Pigny P et al. Efficient mutation in MEN1 gene using a combination of single-strand conformational polymorphism (MDGA™) and heteroduplex analysis. Electrophoresis 2003; 24 : 26-33.
-
(2003)
Electrophoresis
, vol.24
, pp. 26-33
-
-
Crépin, M.1
Escande, F.2
Pigny, P.3
-
9
-
-
33646126511
-
Evaluation of Denaturing High Performance Liquid Chromatography for the mutational analysis of the MEN1 gene
-
Crépin M, Pigny P, Escande F et al. Evaluation of Denaturing High Performance Liquid Chromatography for the mutational analysis of the MEN1 gene. J Mol Endocrinol 2006; 36 : 369-76.
-
(2006)
J Mol Endocrinol
, vol.36
, pp. 369-376
-
-
Crépin, M.1
Pigny, P.2
Escande, F.3
-
10
-
-
13444304438
-
Detection of a MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing
-
Ellard S, Hattersley AT, Brewer CM, Vaidya B. Detection of a MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clin Endocrinol 2005 ; 62 : 169-75.
-
(2005)
Clin Endocrinol
, vol.62
, pp. 169-175
-
-
Ellard, S.1
Hattersley, A.T.2
Brewer, C.M.3
Vaidya, B.4
-
12
-
-
13844318139
-
Clinical testing for Multiple Endocrine Neoplasia type 1 in a DNA diagnostic laboratory
-
Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for Multiple Endocrine Neoplasia type 1 in a DNA diagnostic laboratory. Genet Med 2005 ; 7 : 131-8.
-
(2005)
Genet Med
, vol.7
, pp. 131-138
-
-
Klein, R.D.1
Salih, S.2
Bessoni, J.3
Bale, A.E.4
-
13
-
-
0347411023
-
Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours
-
Langer P, Wild A, Hall A, Celik I, Rothmund M, Bartsch DK. Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyperparathyroidism or pancreaticoduodenal endocrine tumours. Br J Surg 2003 ; 90 : 1599- 603.
-
(2003)
Br J Surg
, vol.90
, pp. 1599-1603
-
-
Langer, P.1
Wild, A.2
Hall, A.3
Celik, I.4
Rothmund, M.5
Bartsch, D.K.6
-
14
-
-
0023828816
-
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma
-
Larsson C, Skogseid B, Oberg K, Nakamura Y, Nordenskjold M. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 1988 ; 332 : 85.
-
(1988)
Nature
, vol.332
, pp. 85
-
-
Larsson, C.1
Skogseid, B.2
Oberg, K.3
Nakamura, Y.4
Nordenskjold, M.5
-
15
-
-
0033387041
-
Multiple endocrine neoplasia type 1: Clinical and genetic features of the hereditary endocrine neoplasias
-
Marx SJ, Agarwal SK, Kester MB et al. Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. Recent Prog Horm Res 1999 ; 54 : 397-438.
-
(1999)
Recent Prog Horm Res
, vol.54
, pp. 397-438
-
-
Marx, S.J.1
Agarwal, S.K.2
Kester, M.B.3
-
16
-
-
18344380647
-
Molecular genetics of Multiple endocrine Neoplasia types 1 and 2
-
Marx SJ. Molecular genetics of Multiple endocrine Neoplasia types 1 and 2. Nature Rev 2005 ; 5 : 367- 75.
-
(2005)
Nature Rev
, vol.5
, pp. 367-375
-
-
Marx, S.J.1
-
17
-
-
85030523695
-
-
Marx SJ. Multiple Endocrine Neoplasia Type 1. in: The metabolic and molecular bases of inherited disease. Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B., Kinzler KW, Vogelstein B. éd. Mc Graw-Hill, 8th ed. 2001 ; 1 :pp 943-65.
-
Marx SJ. Multiple Endocrine Neoplasia Type 1. in: The metabolic and molecular bases of inherited disease. Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B., Kinzler KW, Vogelstein B. éd. Mc Graw-Hill, 8th ed. 2001 ; 1 :pp 943-65.
-
-
-
-
18
-
-
0037427562
-
Menin interacting proteins as clues toward the understanding of multiple endocrine neoplasia type 1
-
Poisson A, Zablewska B, Gaudray P. Menin interacting proteins as clues toward the understanding of multiple endocrine neoplasia type 1. Cancer Letters 2003 ; 189 : 1-10.
-
(2003)
Cancer Letters
, vol.189
, pp. 1-10
-
-
Poisson, A.1
Zablewska, B.2
Gaudray, P.3
-
19
-
-
33646137967
-
Characterization of MEN1 gene deletion by high resolution CGH microarray in a large MEN1 family
-
Porchet N, Odou MF, Cardot-Bauters C et al. Characterization of MEN1 gene deletion by high resolution CGH microarray in a large MEN1 family. J Intern Medecine 2004 ; 255 : 720.
-
(2004)
J Intern Medecine
, vol.255
, pp. 720
-
-
Porchet, N.1
Odou, M.F.2
Cardot-Bauters, C.3
-
20
-
-
0034091091
-
Criteria for mutation analysis in MEN1-suspected patients: MEN1 case-finding
-
Roijers JFM, De Wit MJ, Van der Luijt RB, Ploos van Amstel HK, Höppener JWM, Lips CJM. Criteria for mutation analysis in MEN1-suspected patients: MEN1 case-finding. Eur J Clin Invest 2000 ; 30 : 487-92.
-
(2000)
Eur J Clin Invest
, vol.30
, pp. 487-492
-
-
Roijers, J.F.M.1
De Wit, M.J.2
Van der Luijt, R.B.3
Ploos van Amstel, H.K.4
Höppener, J.W.M.5
Lips, C.J.M.6
-
21
-
-
0642372245
-
The role of genetics in the surgical management of familial endocrinopathy syndromes
-
Shapiro SE, Cote GC, Lee JE, Gagel FG, Evans DB. The role of genetics in the surgical management of familial endocrinopathy syndromes. J Am Coll Surg 2003 ; 197 : 818-31.
-
(2003)
J Am Coll Surg
, vol.197
, pp. 818-831
-
-
Shapiro, S.E.1
Cote, G.C.2
Lee, J.E.3
Gagel, F.G.4
Evans, D.B.5
-
22
-
-
8544266010
-
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene
-
The European Consortium On MEN 1
-
The European Consortium On MEN 1. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. Hum Mol Genet 1997 ; 6 : 1177-83
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1177-1183
-
-
-
23
-
-
0036301097
-
Germline mutation 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 et al. Germline mutation of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Hum Mut 2002 ; 20 : 35-47.
-
(2002)
Hum Mut
, vol.20
, pp. 35-47
-
-
Wautot, V.1
Vercherat, C.2
Lespinasse, J.3
-
24
-
-
12144288720
-
Genetic testing in familial isolated hyperparathyroidism: Unexpected results and their implications
-
Warner J, Epstein M, Sweet A et al. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 2004 ; 41 : 155- 60.
-
(2004)
J Med Genet
, vol.41
, pp. 155-160
-
-
Warner, J.1
Epstein, M.2
Sweet, A.3
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