516 related articles for article (PubMed ID: 25104082)
1. 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]
2. 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]
3. Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
Vargas-Poussou R; Mansour-Hendili L; Baron S; Bertocchio JP; Travers C; Simian C; Treard C; Baudouin V; Beltran S; Broux F; Camard O; Cloarec S; Cormier C; Debussche X; Dubosclard E; Eid C; Haymann JP; Kiando SR; Kuhn JM; Lefort G; Linglart A; Lucas-Pouliquen B; Macher MA; Maruani G; Ouzounian S; Polak M; Requeda E; Robier D; Silve C; Souberbielle JC; Tack I; Vezzosi D; Jeunemaitre X; Houillier P
J Clin Endocrinol Metab; 2016 May; 101(5):2185-95. PubMed ID: 26963950
[TBL] [Abstract][Full Text] [Related]
4. AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.
Hovden S; Rejnmark L; Ladefoged SA; Nissen PH
Eur J Endocrinol; 2017 Feb; 176(2):177-185. PubMed ID: 27913609
[TBL] [Abstract][Full Text] [Related]
5. Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.
Hendy GN; Canaff L; Newfield RS; Tripto-Shkolnik L; Wong BY; Lee BS; Cole DE
J Clin Endocrinol Metab; 2014 Jul; 99(7):E1311-5. PubMed ID: 24731014
[TBL] [Abstract][Full Text] [Related]
6. GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B; Schnabel D; Dörr HG; Schöfl C
Eur J Endocrinol; 2016 May; 174(5):R189-208. PubMed ID: 26646938
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.
Guarnieri V; Canaff L; Yun FH; Scillitani A; Battista C; Muscarella LA; Wong BY; Notarangelo A; D'Agruma L; Sacco M; Cole DE; Hendy GN
J Clin Endocrinol Metab; 2010 Apr; 95(4):1819-29. PubMed ID: 20164288
[TBL] [Abstract][Full Text] [Related]
9. Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology.
Marx SJ
J Clin Endocrinol Metab; 2017 Nov; 102(11):3933-3936. PubMed ID: 28945857
[TBL] [Abstract][Full Text] [Related]
10. Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
Christensen SE; Nissen PH; Vestergaard P; Heickendorff L; Rejnmark L; Brixen K; Mosekilde L
Eur J Endocrinol; 2008 Dec; 159(6):719-27. PubMed ID: 18787045
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by
Wong FCK; Wong WS; Kwok JSS; Tsui TKC; Lau KP; Chan MHM; Yuen YP
F1000Res; 2019; 8():1612. PubMed ID: 31723423
[TBL] [Abstract][Full Text] [Related]
13. Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism.
Marx SJ
J Bone Miner Res; 2018 Jan; 33(1):27-31. PubMed ID: 29115694
[TBL] [Abstract][Full Text] [Related]
14. Familial hypocalciuric hypercalcemia and related disorders.
Lee JY; Shoback DM
Best Pract Res Clin Endocrinol Metab; 2018 Oct; 32(5):609-619. PubMed ID: 30449544
[TBL] [Abstract][Full Text] [Related]
15. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM; Howles SA; Rogers A; Cranston T; Gorvin CM; Babinsky VN; Reed AA; Thakker CE; Bockenhauer D; Brown RS; Connell JM; Cook J; Darzy K; Ehtisham S; Graham U; Hulse T; Hunter SJ; Izatt L; Kumar D; McKenna MJ; McKnight JA; Morrison PJ; Mughal MZ; O'Halloran D; Pearce SH; Porteous ME; Rahman M; Richardson T; Robinson R; Scheers I; Siddique H; Van't Hoff WG; Wang T; Whyte MP; Nesbit MA; Thakker RV
Hum Mol Genet; 2015 Sep; 24(18):5079-92. PubMed ID: 26082470
[TBL] [Abstract][Full Text] [Related]
16. Misleading localization by
Mukhtar NN; Abouzied MEM; Alqahtani MH; Hammami MM
BMC Endocr Disord; 2021 Jan; 21(1):20. PubMed ID: 33499837
[TBL] [Abstract][Full Text] [Related]
17. Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.
Frank-Raue K; Leidig-Bruckner G; Haag C; Schulze E; Lorenz A; Schmitz-Winnenthal H; Raue F
Clin Endocrinol (Oxf); 2011 Jul; 75(1):50-5. PubMed ID: 21521328
[TBL] [Abstract][Full Text] [Related]
18. [A series of clinical cases of familial hypocalciuric hypercalcemia syndrome].
Krupinova JA; Almaskhanova AA; Eremkina AK; Bibik EE; Vasilyev EV; Mokrysheva NG
Probl Endokrinol (Mosk); 2020 Oct; 66(5):61-69. PubMed ID: 33369373
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
Papadakis M; Meurer N; Margariti T; Meyer A; Weyerbrock N; Dotzenrath C
Hormones (Athens); 2016 Oct; 15(4):557-559. PubMed ID: 28222409
[TBL] [Abstract][Full Text] [Related]
20. Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
Rogers A; Nesbit MA; Hannan FM; Howles SA; Gorvin CM; Cranston T; Allgrove J; Bevan JS; Bano G; Brain C; Datta V; Grossman AB; Hodgson SV; Izatt L; Millar-Jones L; Pearce SH; Robertson L; Selby PL; Shine B; Snape K; Warner J; Thakker RV
J Clin Endocrinol Metab; 2014 Jul; 99(7):E1300-5. PubMed ID: 24708097
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]