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Results: 1 to 20 of 96

1.

Absence of mutation in coding regions of CYP2R1 gene in apparent autosomal dominant vitamin D 25-hydroxylase deficiency rickets.

Tosson H, Rose SR.

J Clin Endocrinol Metab. 2012 May;97(5):E796-801. doi: 10.1210/jc.2011-2716. Epub 2012 Mar 14.

PMID:
22419701
[PubMed - indexed for MEDLINE]
2.

Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency.

Al Mutair AN, Nasrat GH, Russell DW.

J Clin Endocrinol Metab. 2012 Oct;97(10):E2022-5. doi: 10.1210/jc.2012-1340. Epub 2012 Aug 1.

PMID:
22855339
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Predisposition to vitamin D deficiency osteomalacia and rickets in females is linked to their 25(OH)D and calcium intake rather than vitamin D receptor gene polymorphism.

Ray D, Goswami R, Gupta N, Tomar N, Singh N, Sreenivas V.

Clin Endocrinol (Oxf). 2009 Sep;71(3):334-40. doi: 10.1111/j.1365-2265.2008.03500.x.

PMID:
19094076
[PubMed - indexed for MEDLINE]
4.

A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1.

Alzahrani AS, Zou M, Baitei EY, Alshaikh OM, Al-Rijjal RA, Meyer BF, Shi Y.

J Clin Endocrinol Metab. 2010 Sep;95(9):4176-83. doi: 10.1210/jc.2009-2278. Epub 2010 Jun 9.

PMID:
20534770
[PubMed - indexed for MEDLINE]
5.

Genetic causes of rickets.

Miller WL, Portale AA.

Curr Opin Pediatr. 1999 Aug;11(4):333-9. Review.

PMID:
10439207
[PubMed - indexed for MEDLINE]
6.

Vitamin D status and gene transcription in immune cells.

Morán-Auth Y, Penna-Martinez M, Shoghi F, Ramos-Lopez E, Badenhoop K.

J Steroid Biochem Mol Biol. 2013 Jul;136:83-5. doi: 10.1016/j.jsbmb.2013.02.005. Epub 2013 Feb 13. Review.

PMID:
23416105
[PubMed - indexed for MEDLINE]
7.

Vitamin D-dependent rickets type 1: a rare, but treatable, cause of severe hypotonia in infancy.

Yan Y, Calikoglu AS, Jain N.

J Child Neurol. 2011 Dec;26(12):1571-5. doi: 10.1177/0883073811411190. Epub 2011 Jun 23.

PMID:
21700898
[PubMed - indexed for MEDLINE]
8.

Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes.

Cooper JD, Smyth DJ, Walker NM, Stevens H, Burren OS, Wallace C, Greissl C, Ramos-Lopez E, Hyppönen E, Dunger DB, Spector TD, Ouwehand WH, Wang TJ, Badenhoop K, Todd JA.

Diabetes. 2011 May;60(5):1624-31. doi: 10.2337/db10-1656. Epub 2011 Mar 25.

PMID:
21441443
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Clinical utility of vitamin d testing: an evidence-based analysis.

Health Quality Ontario.

Ont Health Technol Assess Ser. 2010;10(2):1-93. Epub 2010 Feb 1.

PMID:
23074397
[PubMed]
Free PMC Article
10.

No enzyme activity of 25-hydroxyvitamin D3 1alpha-hydroxylase gene product in pseudovitamin D deficiency rickets, including that with mild clinical manifestation.

Kitanaka S, Murayama A, Sakaki T, Inouye K, Seino Y, Fukumoto S, Shima M, Yukizane S, Takayanagi M, Niimi H, Takeyama K, Kato S.

J Clin Endocrinol Metab. 1999 Nov;84(11):4111-7.

PMID:
10566658
[PubMed - indexed for MEDLINE]
11.

Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.

Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW.

Proc Natl Acad Sci U S A. 2004 May 18;101(20):7711-5. Epub 2004 May 5.

PMID:
15128933
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus.

St-Arnaud R, Messerlian S, Moir JM, Omdahl JL, Glorieux FH.

J Bone Miner Res. 1997 Oct;12(10):1552-9.

PMID:
9333115
[PubMed - indexed for MEDLINE]
13.

Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

Kitanaka S, Takeyama K, Murayama A, Sato T, Okumura K, Nogami M, Hasegawa Y, Niimi H, Yanagisawa J, Tanaka T, Kato S.

N Engl J Med. 1998 Mar 5;338(10):653-61.

PMID:
9486994
[PubMed - indexed for MEDLINE]
Free Article
14.

Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.

Smith SJ, Rucka AK, Berry JL, Davies M, Mylchreest S, Paterson CR, Heath DA, Tassabehji M, Read AP, Mee AP, Mawer EB.

J Bone Miner Res. 1999 May;14(5):730-9.

PMID:
10320521
[PubMed - indexed for MEDLINE]
15.

The role of the vitamin D receptor in regulating vitamin D metabolism: a study of vitamin D-dependent rickets, type II.

Tiosano D, Weisman Y, Hochberg Z.

J Clin Endocrinol Metab. 2001 May;86(5):1908-12.

PMID:
11344183
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
9495519
[PubMed - indexed for MEDLINE]
17.

The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children.

Zhang Y, Wang X, Liu Y, Qu H, Qu S, Wang W, Ren L.

Swiss Med Wkly. 2012 Jul 16;142:w13636. doi: 10.4414/smw.2012.13636.

PMID:
22801813
[PubMed - indexed for MEDLINE]
Free Article
18.

The importance of 25-hydroxyvitamin D3 1 alpha-hydroxylase gene in vitamin D-dependent rickets.

Kato S, Yanagisawa J, Murayama A, Kitanaka S, Takeyama K.

Curr Opin Nephrol Hypertens. 1998 Jul;7(4):377-83. Review.

PMID:
9690035
[PubMed - indexed for MEDLINE]
19.

Vitamin D dependent rickets type I.

Kim CJ.

Korean J Pediatr. 2011 Feb;54(2):51-4. doi: 10.3345/kjp.2011.54.2.51. Epub 2011 Feb 28.

PMID:
21503197
[PubMed]
Free PMC Article
20.

[Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family].

Negri AL, Negrotti T, Alonso G, Pasqualini T.

Medicina (B Aires). 2004;64(2):103-6. Spanish.

PMID:
15628294
[PubMed - indexed for MEDLINE]

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