307 related articles for article (PubMed ID: 21812032)
1. Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.
Malloy PJ; Zhou Y; Wang J; Hiort O; Feldman D
J Bone Miner Res; 2011 Nov; 26(11):2710-8. PubMed ID: 21812032
[TBL] [Abstract][Full Text] [Related]
2. Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.
Zhou Y; Wang J; Malloy PJ; Dolezel Z; Feldman D
J Bone Miner Res; 2009 Apr; 24(4):643-51. PubMed ID: 19049339
[TBL] [Abstract][Full Text] [Related]
3. A novel inborn error in the ligand-binding domain of the vitamin D receptor causes hereditary vitamin D-resistant rickets.
Malloy PJ; Zhu W; Zhao XY; Pehling GB; Feldman D
Mol Genet Metab; 2001 Jun; 73(2):138-48. PubMed ID: 11386849
[TBL] [Abstract][Full Text] [Related]
4. Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor.
Zhu W; Malloy PJ; Delvin E; Chabot G; Feldman D
J Bone Miner Res; 1998 Feb; 13(2):259-64. PubMed ID: 9495519
[TBL] [Abstract][Full Text] [Related]
5. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor.
Malloy PJ; Wang J; Srivastava T; Feldman D
Mol Genet Metab; 2010 Jan; 99(1):72-9. PubMed ID: 19815438
[TBL] [Abstract][Full Text] [Related]
6. Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function.
Malloy PJ; Xu R; Peng L; Peleg S; Al-Ashwal A; Feldman D
Endocrinology; 2004 Nov; 145(11):5106-14. PubMed ID: 15308610
[TBL] [Abstract][Full Text] [Related]
7. Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.
Faiyaz-Ul-Haque M; AlDhalaan W; AlAshwal A; Bin-Abbas BS; AlSagheir A; Alotaiby M; Rafiq Z; Zaidi SHE
J Pediatr Endocrinol Metab; 2018 Aug; 31(8):861-868. PubMed ID: 29949513
[TBL] [Abstract][Full Text] [Related]
8. Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.
Nguyen M; d'Alesio A; Pascussi JM; Kumar R; Griffin MD; Dong X; Guillozo H; Rizk-Rabin M; Sinding C; Bougnères P; Jehan F; Garabédian M
J Bone Miner Res; 2006 Jun; 21(6):886-94. PubMed ID: 16753019
[TBL] [Abstract][Full Text] [Related]
9. Novel compound heterozygous mutations in the vitamin D receptor gene in a Korean girl with hereditary vitamin D resistant rickets.
Song JK; Yoon KS; Shim KS; Bae CW
J Korean Med Sci; 2011 Aug; 26(8):1111-4. PubMed ID: 21860566
[TBL] [Abstract][Full Text] [Related]
10. Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
Malloy PJ; Eccleshall TR; Gross C; Van Maldergem L; Bouillon R; Feldman D
J Clin Invest; 1997 Jan; 99(2):297-304. PubMed ID: 9005998
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
Malloy PJ; Xu R; Peng L; Clark PA; Feldman D
Mol Endocrinol; 2002 Nov; 16(11):2538-46. PubMed ID: 12403843
[TBL] [Abstract][Full Text] [Related]
12. Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.
Tseng MH; Huang SM; Lo FS; Huang JL; Cheng CJ; Lee HJ; Lin SH
Sci Rep; 2017 Nov; 7(1):15337. PubMed ID: 29127362
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Lin NU; Malloy PJ; Sakati N; al-Ashwal A; Feldman D
J Clin Endocrinol Metab; 1996 Jul; 81(7):2564-9. PubMed ID: 8675579
[TBL] [Abstract][Full Text] [Related]
14. Two new unrelated cases of hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from the same novel nonsense mutation in the vitamin D receptor gene.
Forghani N; Lum C; Krishnan S; Wang J; Wilson DM; Blackett PR; Malloy PJ; Feldman D
J Pediatr Endocrinol Metab; 2010 Aug; 23(8):843-50. PubMed ID: 21073129
[TBL] [Abstract][Full Text] [Related]
15. Enteral calcium infusion used successfully as treatment for a patient with hereditary vitamin D resistant rickets (HVDRR) without alopecia: a novel mutation.
Huang K; Malloy P; Feldman D; Pitukcheewanont P
Gene; 2013 Jan; 512(2):554-9. PubMed ID: 23026218
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Macedo LC; Soardi FC; Ananias N; Belangero VM; Rigatto SZ; De-Mello MP; D'Souza-Li L
Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1244-51. PubMed ID: 19169476
[TBL] [Abstract][Full Text] [Related]
17. Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D.
Nguyen TM; Adiceam P; Kottler ML; Guillozo H; Rizk-Rabin M; Brouillard F; Lagier P; Palix C; Garnier JM; Garabedian M
J Bone Miner Res; 2002 Sep; 17(9):1728-37. PubMed ID: 12211444
[TBL] [Abstract][Full Text] [Related]
18. Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy.
Ma NS; Malloy PJ; Pitukcheewanont P; Dreimane D; Geffner ME; Feldman D
Bone; 2009 Oct; 45(4):743-6. PubMed ID: 19523546
[TBL] [Abstract][Full Text] [Related]
19. A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ; Xu R; Cattani A; Reyes mL; Feldman D
J Bone Miner Res; 2004 Jun; 19(6):1018-24. PubMed ID: 15190891
[TBL] [Abstract][Full Text] [Related]
20. Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets.
Hanna AE; Sanjad S; Andary R; Nemer G; Ghafari JG
JDR Clin Trans Res; 2018 Jan; 3(1):28-34. PubMed ID: 30938651
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
