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Similar articles for PubMed (Select 24140640)

1.

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

Reuter MS, Schwabe GC, Ehlers C, Marschall C, Reis A, Thiel C, Graul-Neumann L.

Eur J Med Genet. 2013 Dec;56(12):669-73. doi: 10.1016/j.ejmg.2013.10.002. Epub 2013 Oct 17.

PMID:
24140640
2.

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
3.

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, Yu JB, Gu JM, Hu WW, Wang C, He JW, Fu WZ.

J Bone Miner Metab. 2012 Jan;30(1):69-77. doi: 10.1007/s00774-011-0284-6. Epub 2011 Jun 14.

PMID:
21667357
4.

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.

5.

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers PH.

Hum Mutat. 2007 Mar;28(3):209-21. Review.

6.

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
7.

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

Swinnen FK, Coucke PJ, De Paepe AM, Symoens S, Malfait F, Gentile FV, Sangiorgi L, D'Eufemia P, Celli M, Garretsen TJ, Cremers CW, Dhooge IJ, De Leenheer EM.

Orphanet J Rare Dis. 2011 Dec 29;6:88. doi: 10.1186/1750-1172-6-88.

8.

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

Ward LM, Lalic L, Roughley PJ, Glorieux FH.

Hum Mutat. 2001 May;17(5):434.

PMID:
11317364
9.
10.

Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.

Witecka J, Auguściak-Duma AM, Kruczek A, Szydło A, Lesiak M, Krzak M, Pietrzyk JJ, Männikkö M, Sieroń AL.

J Appl Genet. 2008;49(3):283-95. doi: 10.1007/BF03195625.

PMID:
18670065
11.

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
12.

Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

Rauch F, Lalic L, Roughley P, Glorieux FH.

Eur J Hum Genet. 2010 Jun;18(6):642-7. doi: 10.1038/ejhg.2009.242. Epub 2010 Jan 20.

13.

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
14.

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A.

Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78.

15.
16.

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta.

Xu Z, Li Y, Zhang X, Zeng F, Yuan M, Liu M, Wang QK, Liu JY.

J Genet Genomics. 2011 Apr 20;38(4):149-56. doi: 10.1016/j.jgg.2011.03.002. Epub 2011 Mar 24.

PMID:
21530898
17.

Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.

Lu Y, Ren X, Wang Y, Li T, Li F, Wang S, Xu C, Wu G, Li H, Li G, Zhao F, Wang Z, Mo X, Han J.

Clin Endocrinol (Oxf). 2014 Apr;80(4):524-31. doi: 10.1111/cen.12354. Epub 2014 Jan 12.

PMID:
24147872
18.

Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen.

Galicka A, Wołczyński S, Gindzieński A, Surazyński A, Pałka J.

Mol Cell Biochem. 2003 Jun;248(1-2):49-56.

PMID:
12870654
19.

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

Gajko-Galicka A.

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

20.

Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.

Ries-Levavi L, Ish-Shalom T, Frydman M, Lev D, Cohen S, Barkai G, Goldman B, Byers P, Friedman E.

Hum Mutat. 2004 Apr;23(4):399-400.

PMID:
15024745
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