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Items: 1 to 20 of 94

1.

No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.

Ban M, Caillier S, Mero IL, Myhr KM, Celius EG, Aarseth J, Torkildsen Ø, Harbo HF, Oksenberg J, Hauser SL, Sawcer S, Compston A.

Ann Neurol. 2013 Mar;73(3):430-2. doi: 10.1002/ana.23833. Epub 2013 Feb 26.

2.

Rare variants in the CYP27B1 gene are associated with multiple sclerosis.

Ramagopalan SV, Dyment DA, Cader MZ, Morrison KM, Disanto G, Morahan JM, Berlanga-Taylor AJ, Handel A, De Luca GC, Sadovnick AD, Lepage P, Montpetit A, Ebers GC.

Ann Neurol. 2011 Dec;70(6):881-6. doi: 10.1002/ana.22678.

PMID:
22190362
3.

No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis.

Barizzone N, Pauwels I, Luciano B, Franckaert D, Guerini FR, Cosemans L, Hilven K, Salviati A, Dooley J, Danso-Abeam D, di Sapio A, Cavalla P, Decallonne B, Mathieu C, Liston A, Leone M, Dubois B, D'Alfonso S, Goris A.

Ann Neurol. 2013 Mar;73(3):433-7. doi: 10.1002/ana.23834. Epub 2013 Mar 11.

PMID:
23483640
4.

Analysis of CYP27B1 in multiple sclerosis.

Ross JP, Bernales CQ, Lee JD, Sadovnick AD, Traboulsee AL, Vilariño-Güell C.

J Neuroimmunol. 2014 Jan 15;266(1-2):64-6. doi: 10.1016/j.jneuroim.2013.11.006. Epub 2013 Nov 23.

5.

No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.

Reinthaler E, Machetanz G, Hotzy C, Reindl M, Fazekas F, Kristoferitsch W, Berger T, Schmied C, Zimprich A.

Mult Scler. 2014 Mar;20(3):391-2. doi: 10.1177/1352458513498130. Epub 2013 Jul 25. No abstract available.

PMID:
23886824
6.

Confirmation of association between multiple sclerosis and CYP27B1.

Sundqvist E, Bäärnhielm M, Alfredsson L, Hillert J, Olsson T, Kockum I.

Eur J Hum Genet. 2010 Dec;18(12):1349-52. doi: 10.1038/ejhg.2010.113. Epub 2010 Jul 21.

7.

A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.

Babiker AM, Al Gadi I, Al-Jurayyan NA, Al Nemri AM, Al Haboob AA, Al Boukai AA, Al Zahrani A, Habib HA.

BMC Res Notes. 2014 Nov 5;7:783. doi: 10.1186/1756-0500-7-783.

8.

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

Durmaz E, Zou M, Al-Rijjal RA, Bircan I, Akçurin S, Meyer B, Shi Y.

Clin Endocrinol (Oxf). 2012 Sep;77(3):363-9. doi: 10.1111/j.1365-2265.2012.04394.x.

PMID:
22443290
9.

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I.

Tahir S, Demirbilek H, Ozbek MN, Baran RT, Tanriverdi S, Hussain K.

Horm Res Paediatr. 2016;85(5):309-17. doi: 10.1159/000444483. Epub 2016 Mar 17.

PMID:
26982175
10.

Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria.

Søvik O, Boman H.

Acta Paediatr. 2008 May;97(5):665-7. doi: 10.1111/j.1651-2227.2008.00722.x.

PMID:
18394115
11.

Variants of CYP27B1 are associated with both multiple sclerosis and neuromyelitis optica patients in Han Chinese population.

Zhuang JC, Huang ZY, Zhao GX, Yu H, Li ZX, Wu ZY.

Gene. 2015 Feb 25;557(2):236-9. doi: 10.1016/j.gene.2014.12.045. Epub 2014 Dec 24.

PMID:
25542806
12.

VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients.

Agnello L, Scazzone C, Lo Sasso B, Bellia C, Bivona G, Realmuto S, Brighina F, Schillaci R, Ragonese P, Salemi G, Ciaccio M.

Biochem Genet. 2017 Apr;55(2):183-192. doi: 10.1007/s10528-016-9783-4. Epub 2016 Nov 30.

PMID:
27904983
13.

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
14.

Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients.

Cui N, Xia W, Su H, Pang L, Jiang Y, Sun Y, Nie M, Xing X, Li M, Wang O, Yuan T, Chi Y, Hu Y, Liu H, Meng X, Zhou X.

Bone. 2012 Sep;51(3):563-9. doi: 10.1016/j.bone.2012.05.006. Epub 2012 May 12.

PMID:
22588163
15.

Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis.

Simon KC, Munger KL, Xing Yang, Ascherio A.

Mult Scler. 2010 Feb;16(2):133-8. doi: 10.1177/1352458509355069. Epub 2009 Dec 9.

16.

Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians.

Orton SM, Ramagopalan SV, Para AE, Lincoln MR, Handunnetthi L, Chao MJ, Morahan J, Morrison KM, Sadovnick AD, Ebers GC.

J Neurol Sci. 2011 Jun 15;305(1-2):116-20. doi: 10.1016/j.jns.2011.02.032. Epub 2011 Mar 26.

PMID:
21440908
17.

Decoding multiple sclerosis.

Oksenberg JR, Hauser SL.

Ann Neurol. 2011 Dec;70(6):A5-7. doi: 10.1002/ana.22680. No abstract available.

PMID:
22190375
18.

The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells.

Shahijanian F, Parnell GP, McKay FC, Gatt PN, Shojoei M, O'Connor KS, Schibeci SD, Brilot F, Liddle C, Batten M; ANZgene Multiple Sclerosis Genetics Consortium, Stewart GJ, Booth DR.

Hum Mol Genet. 2014 Mar 15;23(6):1425-34. doi: 10.1093/hmg/ddt529. Epub 2013 Oct 24.

PMID:
24158849
19.

Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families.

Wang JT, Lin CJ, Burridge SM, Fu GK, Labuda M, Portale AA, Miller WL.

Am J Hum Genet. 1998 Dec;63(6):1694-702.

20.

Synergism of CYP2R1 and CYP27B1 polymorphisms and susceptibility to type 1 diabetes in Egyptian children.

Hussein AG, Mohamed RH, Alghobashy AA.

Cell Immunol. 2012 Sep;279(1):42-5. doi: 10.1016/j.cellimm.2012.08.006. Epub 2012 Sep 20.

PMID:
23063903

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