메뉴 건너뛰기




Volumn 8, Issue 5, 2006, Pages 559-566

Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN HRPT2; PROTEIN MEN1; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

EID: 33751179021     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2006.060015     Document Type: Article
Times cited : (16)

References (40)
  • 2
    • 0000459336 scopus 로고    scopus 로고
    • 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
  • 5
    • 0034457762 scopus 로고    scopus 로고
    • 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
  • 10
  • 16
    • 0842291514 scopus 로고    scopus 로고
    • 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
  • 21
    • 0036301097 scopus 로고    scopus 로고
    • 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
  • 26
    • 0031760161 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 32
    • 0031291719 scopus 로고    scopus 로고
    • 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
  • 34
    • 0034999807 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 39
    • 4043114415 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.