295 related articles for article (PubMed ID: 32430905)
1. Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort.
Mariathasan S; Andrews KA; Thompson E; Challis BG; Wilcox S; Pierce H; Hale J; Spiden S; Fuller G; Simpson HL; Fish B; Jani P; Seetho I; Armstrong R; Izatt L; Joshi M; Velusamy A; Park SM; Casey RT
Clin Endocrinol (Oxf); 2020 Oct; 93(4):409-418. PubMed ID: 32430905
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.
Khairi S; Osborne J; Jacobs MF; Clines GT; Miller BS; Hughes DT; Else T
Horm Cancer; 2020 Oct; 11(5-6):250-255. PubMed ID: 32761341
[TBL] [Abstract][Full Text] [Related]
4. Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
Stratta P; Merlotti G; Musetti C; Quaglia M; Pagani A; Izzo C; Radin E; Airoldi A; Baorda F; Palladino T; Leone MP; Guarnieri V
Nephrol Dial Transplant; 2014 Oct; 29(10):1902-9. PubMed ID: 25104082
[TBL] [Abstract][Full Text] [Related]
5. A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.
De Sousa SMC; Carroll RW; Henderson A; Burgess J; Clifton-Bligh RJ
Endocrine; 2022 Jan; 75(1):23-32. PubMed ID: 34773560
[TBL] [Abstract][Full Text] [Related]
6. A Novel Missense
Bletsis P; Metzger R; Nelson JA; Gasparini J; Alsayed M; Milas M
AACE Clin Case Rep; 2022; 8(5):194-198. PubMed ID: 36189134
[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. Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single-center study.
Song A; Yang Y; Jiang Y; Nie M; Jiang Y; Li M; Xia W; Xing X; Wang O
J Bone Miner Res; 2023 Sep; 38(9):1322-1333. PubMed ID: 37449924
[TBL] [Abstract][Full Text] [Related]
9. Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods.
Christensen SE; Nissen PH; Vestergaard P; Heickendorff L; Brixen K; Mosekilde L
Clin Endocrinol (Oxf); 2008 Nov; 69(5):713-20. PubMed ID: 18410554
[TBL] [Abstract][Full Text] [Related]
10. Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.
Szalat A; Shpitzen S; Tsur A; Zalmon Koren I; Shilo S; Tripto-Shkolnik L; Durst R; Leitersdorf E; Meiner V
Endocrine; 2017 Mar; 55(3):741-747. PubMed ID: 28176280
[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. Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia.
Asla Q; Sardà H; Seguí N; Martínez de Pinillos G; Mazarico-Altisent I; Capel I; Rives J; Suárez J; Ávila-Rubio V; Muñoz Torres M; Saigí I; Palacios N; Urgell E; Webb SM; Fernández M; Oriola J; Mora M; Tondo M; Aulinas A
Endocrine; 2024 Mar; 83(3):747-756. PubMed ID: 38214877
[TBL] [Abstract][Full Text] [Related]
13. Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review.
Zahedi M; Hizomi Arani R; Rafati M; Amouzegar A; Hadaegh F
BMC Endocr Disord; 2021 Nov; 21(1):220. PubMed ID: 34736428
[TBL] [Abstract][Full Text] [Related]
14. Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.
Marx SJ; Goltzman D
J Bone Miner Res; 2019 Jan; 34(1):22-37. PubMed ID: 30536424
[TBL] [Abstract][Full Text] [Related]
15. Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals.
Nissen PH; Rejnmark L
Clin Endocrinol (Oxf); 2019 Nov; 91(5):683-690. PubMed ID: 31433865
[TBL] [Abstract][Full Text] [Related]
16. Genetics of hereditary forms of primary hyperparathyroidism.
English KA; Lines KE; Thakker RV
Hormones (Athens); 2024 Mar; 23(1):3-14. PubMed ID: 38038882
[TBL] [Abstract][Full Text] [Related]
17. Efficacy of calcium excretion and calcium/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
Bhangu JS; Selberherr A; Brammen L; Scheuba C; Riss P
Head Neck; 2019 May; 41(5):1372-1378. PubMed ID: 30554440
[TBL] [Abstract][Full Text] [Related]
18. A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation.
Sumida A; Iizuka K; Kato T; Liu Y; Kubota S; Kubota-Okamoto S; Sakurai T; Imaizumi T; Takahashi Y; Mizuno M; Takao K; Hirota T; Suwa T; Horikawa Y; Yamamoto M; Seino Y; Suzuki A; Yabe D
BMC Endocr Disord; 2022 Jun; 22(1):164. PubMed ID: 35733207
[TBL] [Abstract][Full Text] [Related]
19. Urinary calcium indices in primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH): which test performs best?
Arshad MF; McAllister J; Merchant A; Rab E; Cook J; Eastell R; Balasubramanian S
Postgrad Med J; 2021 Sep; 97(1151):577-582. PubMed ID: 32892159
[TBL] [Abstract][Full Text] [Related]
20. One in a billion: a patient with Marfan syndrome and familial hypocalciuric hypercalcaemia.
Ann Tee S; Brennan P; L Mitchell A
Endocrinol Diabetes Metab Case Rep; 2021 Jun; 2021():. PubMed ID: 34152285
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
