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Items: 1 to 20 of 114

1.

Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta.

Gentile FV, Zuntini M, Parra A, Battistelli L, Pandolfi M, Pals G, Sangiorgi L.

Hum Mutat. 2012 Dec;33(12):1697-707. doi: 10.1002/humu.22146. Epub 2012 Jul 18.

PMID:
22753364
2.

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.

Rouleau E, Lefol C, Bourdon V, Coulet F, Noguchi T, Soubrier F, Bièche I, Olschwang S, Sobol H, Lidereau R.

Hum Mutat. 2009 Jun;30(6):867-75. doi: 10.1002/humu.20947.

PMID:
19224586
3.

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
4.

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.

5.

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
6.

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
7.

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
8.

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.

Kataoka K, Ogura E, Hasegawa K, Inoue M, Seino Y, Morishima T, Tanaka H.

Pediatr Int. 2007 Oct;49(5):564-9.

PMID:
17875077
9.

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

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

Ned Tijdschr Geneeskd. 2012;156(21):A4585. Review. Dutch.

PMID:
22617071
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.

[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
12.

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
13.

Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.

De Vos A, Sermon K, Van de Velde H, Joris H, Vandervorst M, Lissens W, De Paepe A, Liebaers I, Van Steirteghem A.

Hum Genet. 2000 Jun;106(6):605-13.

PMID:
10942108
14.

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
15.

[Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta].

Zhao X, Xiao J, Wang H, Ren X, Gao J, Wu Y, Lu C, Zhang X.

Zhonghua Yi Xue Za Zhi. 2015 Nov 17;95(43):3484-9. Chinese.

PMID:
26813269
16.

Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes.

Tedeschi E, Antoniazzi F, Venturi G, Zamboni G, Tatò L.

Pediatr Endocrinol Rev. 2006 Sep;4(1):40-6. Review.

PMID:
17021582
17.

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

Ho Duy B, Zhytnik L, Maasalu K, Kändla I, Prans E, Reimann E, Märtson A, Kõks S.

Hum Genomics. 2016 Aug 12;10(1):27. doi: 10.1186/s40246-016-0083-1.

18.

[Screening and analysis of a new mutation of COL1A1 gene in a family with osteogenesis imperfecta].

Bai X, Li K, Ren X, He X, Wang Y, Guan S, Jing Y, Li G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):344-7. doi: 10.3760/cma.j.issn.1003-9406.2014.03.019. Chinese.

PMID:
24928016
19.

Identification of gene mutation in patients with osteogenesis imperfect using high resolution melting analysis.

Wang J, Ren X, Bai X, Zhang T, Wang Y, Li K, Li G.

Sci Rep. 2015 Aug 26;5:13468. doi: 10.1038/srep13468.

20.

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M, Alzayed ZS, Alkuraya FS.

J Med Genet. 2012 Oct;49(10):630-5. doi: 10.1136/jmedgenet-2012-101142.

PMID:
23054245

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