Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 208

1.

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.

PMID:
24682174
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.

PMID:
18755172
3.

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
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.

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.

PMID:
17078022
6.

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.

PMID:
21667357
7.

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.

PMID:
21530898
8.

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
9.

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
10.

Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations.

Xiao J, Yang Z, Sun X, Addabbo R, Baum J.

J Struct Biol. 2015 Oct;192(1):127-37. doi: 10.1016/j.jsb.2015.05.002.

PMID:
25980613
11.

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.

PMID:
20087402
12.

[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
13.

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A.

Eur J Hum Genet. 2015 Aug;23(8):1042-50. doi: 10.1038/ejhg.2015.81. Erratum in: Eur J Hum Genet. 2015 Aug;23(8):1112.

PMID:
25944380
15.

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. Erratum in: Hum Mol Genet. 2009 May 15;18(10):1893-5.

PMID:
18996919
16.

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

Gajko-Galicka A.

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

PMID:
12362985
17.

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
18.

Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.

Takagi M, Shinohara H, Narumi S, Nishimura G, Hasegawa Y, Hasegawa T.

Am J Med Genet A. 2015 Jul;167(7):1627-31. doi: 10.1002/ajmg.a.37051.

PMID:
25858481
19.

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.

PMID:
24311407
20.

COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.

Benusiené E, Kucinskas V.

J Appl Genet. 2003;44(1):95-102.

PMID:
12590186

Supplemental Content

Support Center