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Items: 1 to 20 of 74

1.

Bisphosphonate therapy for osteogenesis imperfecta.

Dwan K, Phillipi CA, Steiner RD, Basel D.

Cochrane Database Syst Rev. 2014 Jul 23;(7):CD005088. doi: 10.1002/14651858.CD005088.pub3. Review. Update in: Cochrane Database Syst Rev. 2016 Oct 19;10 :CD005088.

PMID:
25054949
2.

Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms.

Otsuru S, Gordon PL, Shimono K, Jethva R, Marino R, Phillips CL, Hofmann TJ, Veronesi E, Dominici M, Iwamoto M, Horwitz EM.

Blood. 2012 Aug 30;120(9):1933-41. doi: 10.1182/blood-2011-12-400085. Epub 2012 Jul 24.

3.

Osteogenesis Imperfecta: A Review with Clinical Examples.

van Dijk FS, Cobben JM, Kariminejad A, Maugeri A, Nikkels PG, van Rijn RR, Pals G.

Mol Syndromol. 2011 Dec;2(1):1-20. Epub 2011 Oct 12.

4.

Aortic dissection in osteogenesis imperfecta: case report and review of the literature.

McNeeley MF, Dontchos BN, Laflamme MA, Hubka M, Sadro CT.

Emerg Radiol. 2012 Dec;19(6):553-6. doi: 10.1007/s10140-012-1044-1. Epub 2012 Apr 20. Review. No abstract available.

PMID:
22527359
5.

Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

Ben Amor IM, Glorieux FH, Rauch F.

J Osteoporos. 2011;2011:540178. doi: 10.4061/2011/540178. Epub 2011 Sep 6.

6.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G.

Eur J Hum Genet. 2012 Jan;20(1):11-9. doi: 10.1038/ejhg.2011.141. Epub 2011 Aug 10.

7.

Complete COL1A1 allele deletions in osteogenesis imperfecta.

van Dijk FS, Huizer M, Kariminejad A, Marcelis CL, Plomp AS, Terhal PA, Meijers-Heijboer H, Weiss MM, van Rijn RR, Cobben JM, Pals G.

Genet Med. 2010 Nov;12(11):736-41. doi: 10.1097/GIM.0b013e3181f01617.

PMID:
21113976
8.

Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study.

Ward LM, Rauch F, Whyte MP, D'Astous J, Gates PE, Grogan D, Lester EL, McCall RE, Pressly TA, Sanders JO, Smith PA, Steiner RD, Sullivan E, Tyerman G, Smith-Wright DL, Verbruggen N, Heyden N, Lombardi A, Glorieux FH.

J Clin Endocrinol Metab. 2011 Feb;96(2):355-64. doi: 10.1210/jc.2010-0636. Epub 2010 Nov 24.

PMID:
21106710
9.

Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies.

Jin H, Evangelou E, Ioannidis JP, Ralston SH.

Osteoporos Int. 2011 Mar;22(3):911-21. doi: 10.1007/s00198-010-1364-5. Epub 2010 Aug 27.

10.

GH in combination with bisphosphonate treatment in osteogenesis imperfecta.

Antoniazzi F, Monti E, Venturi G, Franceschi R, Doro F, Gatti D, Zamboni G, Tatò L.

Eur J Endocrinol. 2010 Sep;163(3):479-87. doi: 10.1530/EJE-10-0208. Epub 2010 Jun 30.

11.

A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta.

Bishop N, Harrison R, Ahmed F, Shaw N, Eastell R, Campbell M, Knowles E, Hill C, Hall C, Chapman S, Sprigg A, Rigby A.

J Bone Miner Res. 2010 Jan;25(1):32-40. doi: 10.1359/jbmr.090712.

12.

Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.

Basel D, Steiner RD.

Genet Med. 2009 Jun;11(6):375-85. doi: 10.1097/GIM.0b013e3181a1ff7b. Review.

PMID:
19533842
13.

Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2.

Faqeih E, Roughley P, Glorieux FH, Rauch F.

Am J Med Genet A. 2009 Mar;149A(3):461-5. doi: 10.1002/ajmg.a.32653.

PMID:
19208385
14.

Connective tissue and vascular phenotype in patients with cervical artery dissection.

Dittrich R, Heidbreder A, Rohsbach D, Schmalhorst J, Nassenstein I, Maintz D, Ringelstein EB, Nabavi DG, Kuhlenbäumer G.

Neurology. 2007 Jun 12;68(24):2120-4.

PMID:
17562832
15.

Stapes surgery in Japanese patients with osteogenesis imperfecta.

Doi K, Nishimura H, Ohta Y, Kubo T.

Adv Otorhinolaryngol. 2007;65:226-30.

PMID:
17245052
16.

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.

Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A.

Hum Mutat. 2007 Apr;28(4):387-95.

PMID:
17211858
17.

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC.

Hum Mutat. 2007 Apr;28(4):396-405.

PMID:
17206620
18.

Syndromes with congenital brittle bones.

Plotkin H.

BMC Pediatr. 2004 Aug 31;4:16. Review.

19.

Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype.

Symoens S, Nuytinck L, Legius E, Malfait F, Coucke PJ, De Paepe A.

J Med Genet. 2004 Jul;41(7):e96. No abstract available.

20.

Stapes surgery in osteogenesis imperfecta in Finland.

Kuurila K, Pynnönen S, Grénman R.

Ann Otol Rhinol Laryngol. 2004 Mar;113(3 Pt 1):187-93. Review.

PMID:
15053199

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