BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

329 related articles for article (PubMed ID: 11286811)

  • 21. Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta.
    Kanno J; Saito-Hakoda A; Kure S; Fujiwara I
    J Bone Miner Metab; 2018 May; 36(3):344-351. PubMed ID: 28528406
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Unequal Impact of
    Yamaguti PM; de La Dure-Molla M; Monnot S; Cardozo-Amaya YJ; Baujat G; Michot C; Fournier BPJ; Riou MC; Caldas Rosa ECC; Soares de Lima Y; Dos Santos PAC; Alcaraz G; Guerra ENS; Castro LC; de Oliveira SF; Pogue R; Berdal A; de Paula LM; Mazzeu JF; Cormier-Daire V; Acevedo AC
    J Dent Res; 2023 Jun; 102(6):616-625. PubMed ID: 36951356
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.
    Bai H; Agula H; Wu Q; Zhou W; Sun Y; Qi Y; Latu S; Chen Y; Mutu J; Qiu C
    BMC Med Genet; 2010 Feb; 11():23. PubMed ID: 20146806
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report.
    Numbere N; Weber DR; Porter G; Iqbal MA
    Mol Genet Genomic Med; 2020 Jun; 8(6):e1241. PubMed ID: 32281310
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
    Zhytnik L; Maasalu K; Reimann E; Prans E; Kõks S; Märtson A
    Hum Genomics; 2017 Aug; 11(1):19. PubMed ID: 28810924
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.
    Udomchaiprasertkul W; Kuptanon C; Porntaveetus T; Shotelersuk V
    Eur J Med Genet; 2020 Jun; 63(6):103896. PubMed ID: 32081708
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene.
    Moraes MV; Milanez M; Almada BV; Sipolatti V; Rebouças MR; Nunes VR; Akel AN; Zatz M; Errera FI; Louro ID; Paula F
    Genet Mol Res; 2012 Sep; 11(3):3246-55. PubMed ID: 23079818
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.
    Sykes B; Ogilvie D; Wordsworth P; Wallis G; Mathew C; Beighton P; Nicholls A; Pope FM; Thompson E; Tsipouras P
    Am J Hum Genet; 1990 Feb; 46(2):293-307. PubMed ID: 1967900
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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; 38(4):149-56. PubMed ID: 21530898
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Analysis of COL1A1 gene mutation in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta].
    Huang Y; Guo L; Wang D; Yang M; Yang B
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):653-6. PubMed ID: 27577215
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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. PubMed ID: 17206620
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
    Kim JW; Hu JC; Lee JI; Moon SK; Kim YJ; Jang KT; Lee SH; Kim CC; Hahn SH; Simmer JP
    Hum Genet; 2005 Feb; 116(3):186-91. PubMed ID: 15592686
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in
    Lee Y; Kim YJ; Hyun HK; Lee JC; Lee ZH; Kim JW
    J Pers Med; 2021 Jun; 11(6):. PubMed ID: 34201399
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta.
    Campbell BG; Wootton JA; MacLeod JN; Minor RR
    Arch Biochem Biophys; 2000 Dec; 384(1):37-46. PubMed ID: 11147834
    [TBL] [Abstract][Full Text] [Related]  

  • 38. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
    Bardai G; Moffatt P; Glorieux FH; Rauch F
    Osteoporos Int; 2016 Dec; 27(12):3607-3613. PubMed ID: 27509835
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.
    Wang H; Hou Y; Cui Y; Huang Y; Shi Y; Xia X; Lu H; Wang Y; Li X
    Mutat Res; 2009 Mar; 662(1-2):22-7. PubMed ID: 19103209
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
    Li LJ; Lyu F; Song YW; Wang O; Jiang Y; Xia WB; Xing XP; Li M
    Chin Med J (Engl); 2019 Jan; 132(2):145-153. PubMed ID: 30614853
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.