206 related articles for article (PubMed ID: 31486992)
1. 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]
2. 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]
3.
Szalat A; Shpitzen S; Pollack R; Mazeh H; Durst R; Meiner V
Front Endocrinol (Lausanne); 2023; 14():1254156. PubMed ID: 38130397
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. New Concepts About Familial Isolated Hyperparathyroidism.
Marx SJ
J Clin Endocrinol Metab; 2019 Sep; 104(9):4058-4066. PubMed ID: 30848815
[TBL] [Abstract][Full Text] [Related]
6. Ethnicity of Patients With Germline
Guan B; Welch JM; Vemulapalli M; Li Y; Ling H; Kebebew E; Simonds WF; Marx SJ; Agarwal SK
J Endocr Soc; 2017 May; 1(5):488-499. PubMed ID: 29264504
[TBL] [Abstract][Full Text] [Related]
7. Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.
Park HS; Lee YH; Hong N; Won D; Rhee Y
Front Endocrinol (Lausanne); 2022; 13():853171. PubMed ID: 35586626
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?
Coppin L; Dufosse M; Romanet P; Giraud S; North MO; Cardot Bauters C; Borson-Chazot F; Duchesne L; Métallo M; Lovecchio T; Barlier A; Odou MF
Eur J Endocrinol; 2020 Jan; 182(1):57-65. PubMed ID: 31671402
[TBL] [Abstract][Full Text] [Related]
12. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.
Masi G; Barzon L; Iacobone M; Viel G; Porzionato A; Macchi V; De Caro R; Favia G; Palù G
Endocr Relat Cancer; 2008 Dec; 15(4):1115-26. PubMed ID: 18755853
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition.
Vierimaa O; Villablanca A; Alimov A; Georgitsi M; Raitila A; Vahteristo P; Larsson C; Ruokonen A; Eloranta E; Ebeling TM; Ignatius J; Aaltonen LA; Leisti J; Salmela PI
J Endocrinol Invest; 2009 Jun; 32(6):512-8. PubMed ID: 19474519
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Canaff L; Guarnieri V; Kim Y; Wong BYL; Nolin-Lapalme A; Cole DEC; Minisola S; Eller-Vainicher C; Cetani F; Repaci A; Turchetti D; Corbetta S; Scillitani A; Goltzman D
Eur J Endocrinol; 2022 Feb; 186(3):351-366. PubMed ID: 35038313
[TBL] [Abstract][Full Text] [Related]
17. Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism.
Starker LF; Akerström T; Long WD; Delgado-Verdugo A; Donovan P; Udelsman R; Lifton RP; Carling T
Horm Cancer; 2012 Apr; 3(1-2):44-51. PubMed ID: 22187299
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.
Mazarico-Altisent I; Capel I; Baena N; Bella-Cueto MR; Barcons S; Guirao X; Pareja R; Muntean A; Arsentales V; Caixàs A; Rigla M
Front Endocrinol (Lausanne); 2023; 14():1244361. PubMed ID: 37810884
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]