310 related articles for article (PubMed ID: 21812032)
21. Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers.
Nicolaidou P; Papadopoulou A; Matsinos YG; Georgouli H; Fretzayas A; Papadimitriou A; Priftis K; Douros K; Chrousos GP
Horm Res; 2007; 67(4):179-83. PubMed ID: 17106204
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ; Tasic V; Taha D; Tütüncüler F; Ying GS; Yin LK; Wang J; Feldman D
Mol Genet Metab; 2014 Jan; 111(1):33-40. PubMed ID: 24246681
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II.
Kanakamani J; Tomar N; Kaushal E; Tandon N; Goswami R
Calcif Tissue Int; 2010 Jan; 86(1):33-41. PubMed ID: 19921089
[TBL] [Abstract][Full Text] [Related]
26. A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ; Zhu W; Bouillon R; Feldman D
Mol Genet Metab; 2002 Dec; 77(4):314-8. PubMed ID: 12468277
[TBL] [Abstract][Full Text] [Related]
27. Enhanced coactivator binding and transcriptional activation of mutant vitamin D receptors from patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets by phosphorylation and vitamin D analogs.
Liu Y; Shen Q; Malloy PJ; Soliman E; Peng X; Kim S; Pike JW; Feldman D; Christakos S
J Bone Miner Res; 2005 Sep; 20(9):1680-91. PubMed ID: 16059639
[TBL] [Abstract][Full Text] [Related]
28. Hereditary vitamin D-resistant rickets presenting as alopecia.
Casey G; McPherson T; Kini U; Ryan F; Taibjee SM; Moss C; Burge S
Pediatr Dermatol; 2014; 31(4):519-20. PubMed ID: 24917549
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.
Malloy PJ; Weisman Y; Feldman D
J Clin Endocrinol Metab; 1994 Feb; 78(2):313-6. PubMed ID: 8106618
[TBL] [Abstract][Full Text] [Related]
31. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets.
Ben Ameur S; Silve C; Chabchoub I; Damak F; Kamoun F; Toussaint A; Kmiha S; Sfaihi L; Maaloul I; Kamoun T; Aloulou H; Hachicha M
Horm Res Paediatr; 2017; 87(1):23-29. PubMed ID: 28013309
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.
Whitfield GK; Selznick SH; Haussler CA; Hsieh JC; Galligan MA; Jurutka PW; Thompson PD; Lee SM; Zerwekh JE; Haussler MR
Mol Endocrinol; 1996 Dec; 10(12):1617-31. PubMed ID: 8961271
[TBL] [Abstract][Full Text] [Related]
34. Impaired Vitamin D Signaling in T Cells From a Family With Hereditary Vitamin D Resistant Rickets.
Al-Jaberi FAH; Kongsbak-Wismann M; Aguayo-Orozco A; Krogh N; Buus TB; Lopez DV; Rode AKO; Gravesen E; Olgaard K; Brunak S; Woetmann A; Ødum N; Bonefeld CM; Geisler C
Front Immunol; 2021; 12():684015. PubMed ID: 34093587
[TBL] [Abstract][Full Text] [Related]
35. Identification of a novel mutation in hereditary vitamin D resistant rickets causing exon skipping.
Hawa NS; Cockerill FJ; Vadher S; Hewison M; Rut AR; Pike JW; O'Riordan JL; Farrow SM
Clin Endocrinol (Oxf); 1996 Jul; 45(1):85-92. PubMed ID: 8796143
[TBL] [Abstract][Full Text] [Related]
36. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes.
Andary R; El-Hage-Sleiman AK; Farhat T; Sanjad S; Nemer G
J Pediatr Endocrinol Metab; 2017 Apr; 30(4):437-444. PubMed ID: 28301319
[TBL] [Abstract][Full Text] [Related]
37. Hereditary Vitamin D-Resistant Rickets (HVDRR) associated SNP variants of vitamin D receptor exhibit malfunctioning at multiple levels.
Kashyap J; Kumari N; Ponnusamy K; Tyagi RK
Biochim Biophys Acta Gene Regul Mech; 2023 Mar; 1866(1):194891. PubMed ID: 36396100
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation.
Bayramoğlu E; Şavaş Erdeve Ş; Shi Y; Keskin M; Çetinkaya S; Kurnaz E; Muratoğlu Şahin N; Aycan Z
J Pediatr Endocrinol Metab; 2019 Jun; 32(6):647-651. PubMed ID: 31141481
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
