127 related articles for article (PubMed ID: 9067755)
1. Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.
Körkkö J; Kuivaniemi H; Paassilta P; Zhuang J; Tromp G; DePaepe A; Prockop DJ; Ala-Kokko L
Hum Mutat; 1997; 9(2):148-56. PubMed ID: 9067755
[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. 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]
4. 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]
5. 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]
6. Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta.
Mirandola S; Pignatti PF; Mottes M
Mol Cell Probes; 2000 Dec; 14(6):329-32. PubMed ID: 11090261
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
Körkkö J; Ala-Kokko L; De Paepe A; Nuytinck L; Earley J; Prockop DJ
Am J Hum Genet; 1998 Jan; 62(1):98-110. PubMed ID: 9443882
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
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. PubMed ID: 16786509
[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. 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]
15. Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.
Mottes M; Gomez Lira M; Zolezzi F; Valli M; Lisi V; Freising P
Hum Mutat; 1998; 12(1):71-2. PubMed ID: 10627137
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16879195
[TBL] [Abstract][Full Text] [Related]
17. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
18. Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta.
McKenna MJ; Kristiansen AG; Bartley ML; Rogus JJ; Haines JL
Am J Otol; 1998 Sep; 19(5):604-10. PubMed ID: 9752968
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.
Wenstrup RJ; Lever LW; Phillips CL; Quarles LD
Am J Med Genet; 1993 Jan; 45(2):228-32. PubMed ID: 8456807
[TBL] [Abstract][Full Text] [Related]
20. Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta.
McKenna MJ; Kristiansen AG; Tropitzsch AS
Ann Otol Rhinol Laryngol; 2002 Feb; 111(2):184-9. PubMed ID: 11860074
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]