BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 25792032)

  • 1. Unusual case of neonatal hypercalcemia.
    Brickman TM; Stark MW; Jeyakumar A
    Int J Pediatr Otorhinolaryngol; 2015 May; 79(5):758-9. PubMed ID: 25792032
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy.
    Kulkarni A; Mohite M; Vijaykumar R; Bansode P; Murade S; Tamhankar PM
    Indian J Pediatr; 2014 Nov; 81(11):1228-9. PubMed ID: 24763815
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
    Hendy GN; D'Souza-Li L; Yang B; Canaff L; Cole DE
    Hum Mutat; 2000 Oct; 16(4):281-96. PubMed ID: 11013439
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
    Watanabe S; Fukumoto S
    Nihon Rinsho; 2002 Feb; 60(2):325-30. PubMed ID: 11857921
    [TBL] [Abstract][Full Text] [Related]  

  • 5. New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).
    Rodrigues LS; Cáu AC; Bussmann LZ; Bastida G; Brunetto OH; Corrêa PH; Martin RM
    Arq Bras Endocrinol Metabol; 2011 Feb; 55(1):67-71. PubMed ID: 21468522
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.
    Murphy H; Patrick J; Báez-Irizarry E; Lacassie Y; Gómez R; Vargas A; Barkemeyer B; Kanotra S; Zambrano RM
    Eur J Med Genet; 2016 Apr; 59(4):227-31. PubMed ID: 26855056
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A homozygous CaSR mutation causing a FHH phenotype completely masked by vitamin D deficiency presenting as rickets.
    Szczawinska D; Schnabel D; Letz S; Schöfl C
    J Clin Endocrinol Metab; 2014 Jun; 99(6):E1146-53. PubMed ID: 24517148
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.
    Atay Z; Bereket A; Haliloglu B; Abali S; Ozdogan T; Altuncu E; Canaff L; Vilaça T; Wong BY; Cole DE; Hendy GN; Turan S
    Bone; 2014 Jul; 64():102-7. PubMed ID: 24735972
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
    Glaudo M; Letz S; Quinkler M; Bogner U; Elbelt U; Strasburger CJ; Schnabel D; Lankes E; Scheel S; Feldkamp J; Haag C; Schulze E; Frank-Raue K; Raue F; Mayr B; Schöfl C
    Eur J Endocrinol; 2016 Nov; 175(5):421-31. PubMed ID: 27666534
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Neonatal hypercalcemia due to a homozygous mutation in the calcium-sensing receptor: failure of cinacalcet.
    García Soblechero E; Ferrer Castillo MT; Jiménez Crespo B; Domínguez Quintero ML; González Fuentes C
    Neonatology; 2013; 104(2):104-8. PubMed ID: 23817301
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.
    Wejaphikul K; Dejkhamron P; Khorana J; Watcharachan K; Intachai W; Olsen B; Tongsima S; Ketudat Cairns JR; Ngamphiw C; Kantaputra P
    Horm Res Paediatr; 2023; 96(4):432-438. PubMed ID: 36626889
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
    Pidasheva S; D'Souza-Li L; Canaff L; Cole DE; Hendy GN
    Hum Mutat; 2004 Aug; 24(2):107-11. PubMed ID: 15241791
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management.
    Gupta P; Tak SA; S AV; Misgar RA; Agarwala S; Jain V; Sharma R
    Indian J Pediatr; 2022 Oct; 89(10):1025-1027. PubMed ID: 35380381
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    Bai M; Janicic N; Trivedi S; Quinn SJ; Cole DE; Brown EM; Hendy GN
    J Clin Invest; 1997 Apr; 99(8):1917-25. PubMed ID: 9109436
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
    Wystrychowski A; Pidasheva S; Canaff L; Chudek J; Kokot F; Wiecek A; Hendy GN
    J Clin Endocrinol Metab; 2005 Feb; 90(2):864-70. PubMed ID: 15572418
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet.
    Reh CM; Hendy GN; Cole DE; Jeandron DD
    J Clin Endocrinol Metab; 2011 Apr; 96(4):E707-12. PubMed ID: 21289269
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.
    Chikatsu N; Fukumoto S; Suzawa M; Tanaka Y; Takeuchi Y; Takeda S; Tamura Y; Matsumoto T; Fujita T
    Clin Endocrinol (Oxf); 1999 Apr; 50(4):537-43. PubMed ID: 10468915
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.
    Cole DE; Janicic N; Salisbury SR; Hendy GN
    Am J Med Genet; 1997 Aug; 71(2):202-10. PubMed ID: 9217223
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.
    Miyashiro K; Kunii I; Manna TD; de Menezes Filho HC; Damiani D; Setian N; Hauache OM
    J Clin Endocrinol Metab; 2004 Dec; 89(12):5936-41. PubMed ID: 15579740
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.