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Items: 1 to 20 of 152

1.

[Osteogenesis imperfecta].

Kaux JF, Le Goff C, Debray FG, Crielaard JM, Reginster JY.

Rev Med Liege. 2009 Jan;64(1):11-5. French.

2.

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
4.

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
5.

[Oesteogenesis imperfecta--genetics, diagnosis and medical treatment].

Brixen KT, Illum NO, Hansen B, Lund AM, Mosekilde L.

Ugeskr Laeger. 2007 Jan 1;169(1):30-4. Review. Danish.

PMID:
17217883
6.

[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].

Wang Z, Xu DL, Chen Z, Hu JY, Yang Z, Wang LT.

Zhonghua Yi Xue Za Zhi. 2006 Jan 17;86(3):170-3. Chinese.

PMID:
16638323
7.

Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.

Zhang H, Yue H, Wang C, Hu W, Gu J, He J, Fu W, Hu Y, Li M, Zhang Z.

Mol Med Rep. 2016 Nov;14(5):4918-4926. doi: 10.3892/mmr.2016.5835. Epub 2016 Oct 12.

PMID:
27748872
8.

[Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].

Hasegawa K.

Clin Calcium. 2010 Aug;20(8):1190-5. doi: CliCa100811901195. Review. Japanese.

PMID:
20675929
9.
10.

What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.

Pepin MG, Byers PH.

Am J Med Genet C Semin Med Genet. 2015 Dec;169(4):307-13. doi: 10.1002/ajmg.c.31459. Epub 2015 Nov 14. Review.

PMID:
26566591
11.

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
12.

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM.

Am J Med Genet A. 2014 Feb;164A(2):386-91. doi: 10.1002/ajmg.a.36285. Epub 2013 Dec 5.

PMID:
24311407
13.

Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

Sato A, Ouellet J, Muneta T, Glorieux FH, Rauch F.

Bone. 2016 May;86:53-7. doi: 10.1016/j.bone.2016.02.018. Epub 2016 Feb 27.

PMID:
26927310
14.

A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta.

Barbirato C, Almeida MG, Milanez M, Sipolatti V, Rebouças MR, Akel AN Jr, Nunes VR, Perrone AM, Zatz M, Louro ID, Paula F.

Genet Mol Res. 2009 Feb 17;8(1):173-8.

PMID:
19283684
15.

[Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].

Qin W, He JX, Shi J, Xing QH, Gao JJ, He L, Qian XQ, Liu ZJ, Shu AL, He L.

Yi Chuan Xue Bao. 2005 Mar;32(3):248-52. Chinese.

PMID:
15931785
16.

Osteogenesis imperfecta: clinical, biochemical and molecular findings.

Venturi G, Tedeschi E, Mottes M, Valli M, Camilot M, Viglio S, Antoniazzi F, Tatò L.

Clin Genet. 2006 Aug;70(2):131-9. Erratum in: Clin Genet. 2006 Nov;70(5):455.

PMID:
16879195
17.

A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta.

Xu XJ, Lv F, Liu Y, Wang JY, Song YW, Asan, Wang JW, Song LJ, Jiang Y, Wang O, Xia WB, Xing XP, Li M.

Clin Chim Acta. 2016 Sep 1;460:33-9. doi: 10.1016/j.cca.2016.06.011. Epub 2016 Jun 14.

PMID:
27312322
18.

Intravenous pamidronate in osteogenesis imperfecta type VII.

Cheung MS, Glorieux FH, Rauch F.

Calcif Tissue Int. 2009 Mar;84(3):203-9. doi: 10.1007/s00223-008-9211-9. Epub 2009 Jan 10.

PMID:
19137231
19.

Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

Pollitt R, McMahon R, Nunn J, Bamford R, Afifi A, Bishop N, Dalton A.

Hum Mutat. 2006 Jul;27(7):716.

PMID:
16786509
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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