274 related articles for article (PubMed ID: 24074368)
1. Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism.
Isakov O; Rinella ES; Olchovsky D; Shimon I; Ostrer H; Shomron N; Friedman E
Genet Res (Camb); 2013 Aug; 95(4):114-20. PubMed ID: 24074368
[TBL] [Abstract][Full Text] [Related]
2. Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.
Cetani F; Pardi E; Ambrogini E; Lemmi M; Borsari S; Cianferotti L; Vignali E; Viacava P; Berti P; Mariotti S; Pinchera A; Marcocci C
Clin Endocrinol (Oxf); 2006 Feb; 64(2):146-52. PubMed ID: 16430712
[TBL] [Abstract][Full Text] [Related]
3. Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.
Mizusawa N; Uchino S; Iwata T; Tsuyuguchi M; Suzuki Y; Mizukoshi T; Yamashita Y; Sakurai A; Suzuki S; Beniko M; Tahara H; Fujisawa M; Kamata N; Fujisawa K; Yashiro T; Nagao D; Golam HM; Sano T; Noguchi S; Yoshimoto K
Clin Endocrinol (Oxf); 2006 Jul; 65(1):9-16. PubMed ID: 16817812
[TBL] [Abstract][Full Text] [Related]
4. Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism.
Cetani F; Pardi E; Giovannetti A; Vignali E; Borsari S; Golia F; Cianferotti L; Viacava P; Miccoli P; Gasperi M; Pinchera A; Marcocci C
Clin Endocrinol (Oxf); 2002 Apr; 56(4):457-64. PubMed ID: 11966738
[TBL] [Abstract][Full Text] [Related]
5. 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
J Med Genet; 2004 Mar; 41(3):155-60. PubMed ID: 14985373
[TBL] [Abstract][Full Text] [Related]
6. GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B; Welch JM; Sapp JC; Ling H; Li Y; Johnston JJ; Kebebew E; Biesecker LG; Simonds WF; Marx SJ; Agarwal SK
Am J Hum Genet; 2016 Nov; 99(5):1034-1044. PubMed ID: 27745835
[TBL] [Abstract][Full Text] [Related]
7. Genetic defects associated with familial and sporadic hyperparathyroidism.
Hendy GN; Cole DE
Front Horm Res; 2013; 41():149-65. PubMed ID: 23652676
[TBL] [Abstract][Full Text] [Related]
8. Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese.
Kong J; Wang O; Nie M; Shi J; Hu Y; Jiang Y; Li M; Xia W; Meng X; Xing X
Clin Endocrinol (Oxf); 2014 Aug; 81(2):222-30. PubMed ID: 24716902
[TBL] [Abstract][Full Text] [Related]
9. Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.
Pardi E; Borsari S; Saponaro F; Bogazzi F; Urbani C; Mariotti S; Pigliaru F; Satta C; Pani F; Materazzi G; Miccoli P; Grantaliano L; Marcocci C; Cetani F
PLoS One; 2017; 12(10):e0186485. PubMed ID: 29036195
[TBL] [Abstract][Full Text] [Related]
10. Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.
Shimazu S; Nagamura Y; Yaguchi H; Ohkura N; Tsukada T
Cancer Sci; 2011 Nov; 102(11):2097-102. PubMed ID: 21819486
[TBL] [Abstract][Full Text] [Related]
11. [Hereditary variants of primary hyperparathyroidism--MEN1, MEN2, HPT-JT, FHH, FIHPT].
Frank-Raue K; Leidig-Bruckner G; Lorenz A; Rondot S; Haag C; Schulze E; Büchler M; Raue F
Dtsch Med Wochenschr; 2011 Sep; 136(38):1889-94. PubMed ID: 21915802
[TBL] [Abstract][Full Text] [Related]
12. Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?
Miedlich S; Lohmann T; Schneyer U; Lamesch P; Paschke R
Eur J Endocrinol; 2001 Aug; 145(2):155-60. PubMed ID: 11454510
[TBL] [Abstract][Full Text] [Related]
13. Molecular pathogenesis of primary hyperparathyroidism.
Cetani F; Pardi E; Borsari S; Marcocci C
J Endocrinol Invest; 2011 Jul; 34(7 Suppl):35-9. PubMed ID: 21985978
[TBL] [Abstract][Full Text] [Related]
14. 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
J Clin Endocrinol Metab; 2004 Jan; 89(1):96-102. PubMed ID: 14715834
[TBL] [Abstract][Full Text] [Related]
15. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
Pannett AA; Kennedy AM; Turner JJ; Forbes SA; Cavaco BM; Bassett JH; Cianferotti L; Harding B; Shine B; Flinter F; Maidment CG; Trembath R; Thakker RV
Clin Endocrinol (Oxf); 2003 May; 58(5):639-46. PubMed ID: 12699448
[TBL] [Abstract][Full Text] [Related]
16. Whole exome sequencing in familial isolated primary hyperparathyroidism.
Cetani F; Pardi E; Aretini P; Saponaro F; Borsari S; Mazoni L; Apicella M; Civita P; La Ferla M; Caligo MA; Lessi F; Mazzanti CM; Torregossa L; Oppo A; Marcocci C
J Endocrinol Invest; 2020 Feb; 43(2):231-245. PubMed ID: 31486992
[TBL] [Abstract][Full Text] [Related]
17. Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 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; Park JH; Moon SD; Park JG
Clin Genet; 2003 Jul; 64(1):48-53. PubMed ID: 12791038
[TBL] [Abstract][Full Text] [Related]
18. Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism.
Carrasco CA; González AA; Carvajal CA; Campusano C; Oestreicher E; Arteaga E; Wohllk N; Fardella CE
J Clin Endocrinol Metab; 2004 Aug; 89(8):4124-9. PubMed ID: 15292357
[TBL] [Abstract][Full Text] [Related]
19. Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.
Villablanca A; Wassif WS; Smith T; Höög 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
Eur J Endocrinol; 2002 Sep; 147(3):313-22. PubMed ID: 12213668
[TBL] [Abstract][Full Text] [Related]
20. Preliminary whole-exome sequencing reveals mutations that imply common tumorigenicity pathways in multiple endocrine neoplasia type 1 patients.
Romero Arenas MA; Fowler RG; San Lucas FA; Shen J; Rich TA; Grubbs EG; Lee JE; Scheet P; Perrier ND; Zhao H
Surgery; 2014 Dec; 156(6):1351-7; discussion 1357-8. PubMed ID: 25456907
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]