171 related articles for article (PubMed ID: 29949513)
21. Hereditary vitamin D-resistant rickets in Greek children: genotype, phenotype, and long-term response to treatment.
Nicolaidou P; Tsitsika A; Papadimitriou A; Karantana A; Papadopoulou A; Psychou F; Liakopoulou D; Georgouli H; Kakourou T; Chrousos G
J Pediatr Endocrinol Metab; 2007 Mar; 20(3):425-30. PubMed ID: 17451081
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets.
Mechica JB; Leite MO; Mendonca BB; Frazzatto ES; Borelli A; Latronico AC
J Clin Endocrinol Metab; 1997 Nov; 82(11):3892-4. PubMed ID: 9360557
[TBL] [Abstract][Full Text] [Related]
26. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
Malloy PJ; Wang J; Peng L; Nayak S; Sisk JM; Thompson CC; Feldman D
Arch Biochem Biophys; 2007 Apr; 460(2):285-92. PubMed ID: 17078924
[TBL] [Abstract][Full Text] [Related]
27. Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures.
Rut AR; Hewison M; Kristjansson K; Luisi B; Hughes MR; O'Riordan JL
Clin Endocrinol (Oxf); 1994 Nov; 41(5):581-90. PubMed ID: 7828346
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. NOVEL
Demir K; Zou M; Al-Rijjal RA; BinEssa H; Acar S; Durmaz E; Çatlı G; Al-Enezi AF; Alzahrani AS; Meyer BF; Shi Y
Endocr Pract; 2020 Jan; 26(1):72-81. PubMed ID: 31557081
[No Abstract] [Full Text] [Related]
30. Reproductive history of patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Tiosano D; Weisman Y
Fertil Steril; 2019 Jul; 112(1):156-161. PubMed ID: 31029431
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene.
Mazen I; Ismail S; Amr K; El Gammal M; Abdel-Hamid M
J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):873-8. PubMed ID: 24859502
[TBL] [Abstract][Full Text] [Related]
33. The role of vitamin D receptor in innate and adaptive immunity: a study in hereditary vitamin D-resistant rickets patients.
Tiosano D; Wildbaum G; Gepstein V; Verbitsky O; Weisman Y; Karin N; Eztioni A
J Clin Endocrinol Metab; 2013 Apr; 98(4):1685-93. PubMed ID: 23482605
[TBL] [Abstract][Full Text] [Related]
34. Successful intermittent intravenous calcium treatment via the peripheral route in a patient with hereditary vitamin D-resistant rickets and alopecia.
Ersoy B; Kiremitci S; Isojima T; Kitanaka S
Horm Res Paediatr; 2015; 83(1):67-72. PubMed ID: 25573344
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. The role of vitamin D receptor mutations in the development of alopecia.
Malloy PJ; Feldman D
Mol Cell Endocrinol; 2011 Dec; 347(1-2):90-6. PubMed ID: 21693169
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic Review.
Dodamani MH; Lila AR; Memon SS; Sarathi V; Arya S; Rane A; Sehemby MK; Garg R; Bhandare VV; Karlekar M; Patil VA; Kunwar A; Bandgar TR
Calcif Tissue Int; 2023 Apr; 112(4):483-492. PubMed ID: 36705686
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
