216 related articles for article (PubMed ID: 22187299)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Primary hyperparathyroidism in Chinese children and adolescents: A single-centre experience at Peking Union Medical College Hospital.
Wang W; Kong J; Nie M; Jiang Y; Li M; Xia W; Meng X; Xing X; Wang O
Clin Endocrinol (Oxf); 2017 Dec; 87(6):865-873. PubMed ID: 28833384
[TBL] [Abstract][Full Text] [Related]
8. Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism.
Bricaire L; Odou MF; Cardot-Bauters C; Delemer B; North MO; Salenave S; Vezzosi D; Kuhn JM; Murat A; Caron P; Sadoul JL; Silve C; Chanson P; Barlier A; Clauser E; Porchet N; Groussin L;
J Clin Endocrinol Metab; 2013 Feb; 98(2):E403-8. PubMed ID: 23293331
[TBL] [Abstract][Full Text] [Related]
9. Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L; Stevenson M; Thakker RV
Hum Mutat; 2017 Dec; 38(12):1621-1648. PubMed ID: 28881068
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Genetics of parathyroid tumours.
Thakker RV
J Intern Med; 2016 Dec; 280(6):574-583. PubMed ID: 27306766
[TBL] [Abstract][Full Text] [Related]
12. Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.
Pazienza V; la Torre A; Baorda F; Alfarano M; Chetta M; Muscarella LA; Battista C; Copetti M; Kotzot D; Kapelari K; Al-Abdulrazzaq D; Perlman K; Sochett E; Cole DE; Pellegrini F; Canaff L; Hendy GN; D'Agruma L; Zelante L; Carella M; Scillitani A; Guarnieri V
PLoS One; 2013; 8(12):e82292. PubMed ID: 24340015
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.
van der Tuin K; Tops CMJ; Adank MA; Cobben JM; Hamdy NAT; Jongmans MC; Menko FH; van Nesselrooij BPM; Netea-Maier RT; Oosterwijk JC; Valk GD; Wolffenbuttel BHR; Hes FJ; Morreau H
J Clin Endocrinol Metab; 2017 Dec; 102(12):4534-4540. PubMed ID: 29040582
[TBL] [Abstract][Full Text] [Related]
16. Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation.
Kelly TG; Shattuck TM; Reyes-Mugica M; Stewart AF; Simonds WF; Udelsman R; Arnold A; Carpenter TO
J Bone Miner Res; 2006 Oct; 21(10):1666-71. PubMed ID: 16995822
[TBL] [Abstract][Full Text] [Related]
17. Inheritance, mode of inheritance, and candidate genes for primary hyperparathyroidism in Keeshonden.
Goldstein RE; Atwater DZ; Cazolli DM; Goldstein O; Wade CM; Lindblad-Toh K
J Vet Intern Med; 2007; 21(1):199-203. PubMed ID: 17338170
[TBL] [Abstract][Full Text] [Related]
18. Rare duplication of the CDC73 gene and atypical hyperparathyroidism-jaw tumor syndrome: A case report and review of the literature.
Garrigues G; Batisse-Lignier M; Uhrhammer N; Privat M; Ponelle-Chachuat F; Kelly A; Gay-Bellile M; Viala S; Bidet Y; Bignon YJ; Cavaillé M
Mol Genet Genomic Med; 2023 May; 11(5):e2133. PubMed ID: 36639964
[TBL] [Abstract][Full Text] [Related]
19. Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.
Howell VM; Cardinal JW; Richardson AL; Gimm O; Robinson BG; Marsh DJ
J Mol Diagn; 2006 Nov; 8(5):559-66. PubMed ID: 17065424
[TBL] [Abstract][Full Text] [Related]
20. Genotype-Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism.
Sharma A; Memon S; Lila AR; Sarathi V; Arya S; Jadhav SS; Hira P; Garale M; Gosavi V; Karlekar M; Patil V; Bandgar T
Calcif Tissue Int; 2022 Sep; 111(3):229-241. PubMed ID: 35567607
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]