929 related articles for article (PubMed ID: 15241796)
1. 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. PubMed ID: 15241796
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16705691
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 11317364
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 18755172
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 15024745
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 16786509
[TBL] [Abstract][Full Text] [Related]
7. COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.
Benusiené E; Kucinskas V
J Appl Genet; 2003; 44(1):95-102. PubMed ID: 12590186
[TBL] [Abstract][Full Text] [Related]
8. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.
Gajko-Galicka A
Acta Biochim Pol; 2002; 49(2):433-41. PubMed ID: 12362985
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 16879195
[TBL] [Abstract][Full Text] [Related]
10. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta.
Rauch F; Lalic L; Roughley P; Glorieux FH
J Bone Miner Res; 2010 Jun; 25(6):1367-74. PubMed ID: 19929435
[TBL] [Abstract][Full Text] [Related]
11. Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.
Swinnen FK; De Leenheer EM; Coucke PJ; Cremers CW; Dhooge IJ
Laryngoscope; 2009 Jun; 119(6):1171-9. PubMed ID: 19358256
[TBL] [Abstract][Full Text] [Related]
12. Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants.
Cheung MS; Arponen H; Roughley P; Azouz ME; Glorieux FH; Waltimo-Sirén J; Rauch F
J Bone Miner Res; 2011 Feb; 26(2):405-13. PubMed ID: 20721936
[TBL] [Abstract][Full Text] [Related]
13. Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families.
Mottes M; Sangalli A; Pignatti PF
Am J Med Genet; 1993 Jan; 45(2):217-22. PubMed ID: 8096115
[TBL] [Abstract][Full Text] [Related]
14. Osteogenesis imperfecta: prospects for molecular therapeutics.
Forlino A; Marini JC
Mol Genet Metab; 2000; 71(1-2):225-32. PubMed ID: 11001814
[TBL] [Abstract][Full Text] [Related]
15. Molecular heterogeneity in osteogenesis imperfecta type I.
Willing MC; Pruchno CJ; Byers PH
Am J Med Genet; 1993 Jan; 45(2):223-7. PubMed ID: 8456806
[TBL] [Abstract][Full Text] [Related]
16. [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. PubMed ID: 15931785
[TBL] [Abstract][Full Text] [Related]
17. Molecular findings in Brazilian patients with osteogenesis imperfecta.
Reis FC; Alexandrino F; Steiner CE; Norato DY; Cavalcanti DP; Sartorato EL
J Appl Genet; 2005; 46(1):105-8. PubMed ID: 15741671
[TBL] [Abstract][Full Text] [Related]
18. Mutation analysis of coding sequences for type I procollagen in individuals with low bone density.
Spotila LD; Colige A; Sereda L; Constantinou-Deltas CD; Whyte MP; Riggs BL; Shaker JL; Spector TD; Hume E; Olsen N
J Bone Miner Res; 1994 Jun; 9(6):923-32. PubMed ID: 8079666
[TBL] [Abstract][Full Text] [Related]
19. [Oesteogenesis imperfecta--genetics, diagnosis and medical treatment].
Brixen KT; Illum NO; Hansen B; Lund AM; Mosekilde L
Ugeskr Laeger; 2007 Jan; 169(1):30-4. PubMed ID: 17217883
[TBL] [Abstract][Full Text] [Related]
20. Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.
Chen CP; Lin SP; Suo YN; Chern SR; Su JW; Wang W
Genet Couns; 2012; 23(3):359-65. PubMed ID: 23072183
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
