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Items: 1 to 20 of 136

1.

Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfecta.

Lindahl K, Kindmark A, Laxman N, Åström E, Rubin CJ, Ljunggren Ö.

Int J Med Sci. 2013 Aug 13;10(10):1333-43. doi: 10.7150/ijms.5774. eCollection 2013.

2.

Allele dependent silencing of COL1A2 using small interfering RNAs.

Lindahl K, Rubin CJ, Kindmark A, Ljunggren O.

Int J Med Sci. 2008;5(6):361-5. Epub 2008 Nov 12.

3.

Allele-specific gene silencing in osteogenesis imperfecta.

Ljunggren O, Lindahl K, Rubin CJ, Kindmark A.

Endocr Dev. 2011;21:85-90. doi: 10.1159/000328133. Epub 2011 Aug 22. Review.

PMID:
21865757
4.

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta.

Rousseau J, Gioia R, Layrolle P, Lieubeau B, Heymann D, Rossi A, Marini JC, Trichet V, Forlino A.

Eur J Hum Genet. 2014 May;22(5):667-74. doi: 10.1038/ejhg.2013.198. Epub 2013 Sep 11.

5.

Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta.

McKenna MJ, Kristiansen AG, Tropitzsch AS.

Ann Otol Rhinol Laryngol. 2002 Feb;111(2):184-9.

PMID:
11860074
6.

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.

Xia XY, Cui YX, Huang YF, Pan LJ, Yang B, Wang HY, Li XJ, Shi YC, Lu HY, Zhou YC.

Clin Chim Acta. 2008 Dec;398(1-2):148-51. doi: 10.1016/j.cca.2008.07.030. Epub 2008 Aug 5.

PMID:
18755172
7.

Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.

Nuytinck L, Sayli BS, Karen W, De Paepe A.

Prenat Diagn. 1999 Sep;19(9):873-5.

PMID:
10521849
9.

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
10.

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S, Hyland JC, Ala-Kokko L.

Hum Mutat. 2004 Aug;24(2):147-54. Erratum in: Hum Mutat. 2004 Nov;24(5):437.

PMID:
15241796
11.

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.

Gajko-Galicka A.

Acta Biochim Pol. 2002;49(2):433-41. Review.

12.

Molecular heterogeneity in osteogenesis imperfecta type I.

Willing MC, Pruchno CJ, Byers PH.

Am J Med Genet. 1993 Jan 15;45(2):223-7.

PMID:
8456806
13.

Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta.

Yang Z, Ke ZF, Zeng C, Wang Z, Shi HJ, Wang LT.

Genet Mol Res. 2011 Feb 8;10(1):177-85. doi: 10.4238/vol10-1gmr984.

PMID:
21341209
14.

[Molecular diagnosis of osteogenesis imperfecta type I].

Galicka A, Bielawski T, Gindzieński A, Sredzińska K.

Pol Merkur Lekarski. 2008 Oct;25(148):345-8. Polish.

PMID:
19145934
15.

RNAi of COL1A1 in mesenchymal progenitor cells.

Millington-Ward S, McMahon HP, Allen D, Tuohy G, Kiang AS, Palfi A, Kenna PF, Humphries P, Farrar GJ.

Eur J Hum Genet. 2004 Oct;12(10):864-6.

16.

A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.

Fuccio A, Iorio M, Amato F, Elce A, Ingino R, Filocamo M, Castaldo G, Salvatore F, Tomaiuolo R.

J Mol Diagn. 2011 Nov;13(6):648-56. doi: 10.1016/j.jmoldx.2011.06.006. Epub 2011 Aug 30.

17.

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

Willing MC, Pruchno CJ, Atkinson M, Byers PH.

Am J Hum Genet. 1992 Sep;51(3):508-15.

18.

A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

Xia XY, Li WW, Li N, Wu QY, Cui YX, Li XJ.

Mol Med Rep. 2014 Jun;9(6):2187-90. doi: 10.3892/mmr.2014.2084. Epub 2014 Mar 28.

PMID:
24682174
19.

Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, Koo SK.

Hum Mutat. 2006 Jun;27(6):599.

PMID:
16705691
20.

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE.

Hum Mol Genet. 2009 Feb 1;18(3):463-71. doi: 10.1093/hmg/ddn374. Epub 2008 Nov 7. Erratum in: Hum Mol Genet. 2009 May 15;18(10):1893-5.

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