606 related articles for article (PubMed ID: 26863094)
1. Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.
Balasubramanian M; Sobey GJ; Wagner BE; Peres LC; Bowen J; Bexon J; Javaid MK; Arundel P; Bishop NJ
Ultrastruct Pathol; 2016; 40(2):71-6. PubMed ID: 26863094
[TBL] [Abstract][Full Text] [Related]
2. Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study.
Balasubramanian M; Wagner BE; Peres LC; Sobey GJ; Parker MJ; Dalton A; Arundel P; Bishop NJ
Clin Dysmorphol; 2015 Apr; 24(2):45-54. PubMed ID: 25436829
[TBL] [Abstract][Full Text] [Related]
3. 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]
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. 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]
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. PubMed ID: 21667357
[TBL] [Abstract][Full Text] [Related]
7. Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.
Hald JD; Folkestad L; Harsløf T; Lund AM; Duno M; Jensen JB; Neghabat S; Brixen K; Langdahl B
Osteoporos Int; 2016 Nov; 27(11):3331-3341. PubMed ID: 27256333
[TBL] [Abstract][Full Text] [Related]
8. Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
Zhang H; Yue H; Wang C; Hu W; Gu J; He J; Fu W; Hu Y; Li M; Zhang Z
Mol Med Rep; 2016 Nov; 14(5):4918-4926. PubMed ID: 27748872
[TBL] [Abstract][Full Text] [Related]
9. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
Andersson K; Dahllöf G; Lindahl K; Kindmark A; Grigelioniene G; Åström E; Malmgren B
PLoS One; 2017; 12(5):e0176466. PubMed ID: 28498836
[TBL] [Abstract][Full Text] [Related]
10. Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.
Ohata Y; Takeyari S; Nakano Y; Kitaoka T; Nakayama H; Bizaoui V; Yamamoto K; Miyata K; Yamamoto K; Fujiwara M; Kubota T; Michigami T; Yamamoto K; Yamamoto T; Namba N; Ebina K; Yoshikawa H; Ozono K
Osteoporos Int; 2019 Nov; 30(11):2333-2342. PubMed ID: 31363794
[TBL] [Abstract][Full Text] [Related]
11. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.
Liu Y; Asan ; Ma D; Lv F; Xu X; Wang J; Xia W; Jiang Y; Wang O; Xing X; Yu W; Wang J; Sun J; Song L; Zhu Y; Yang H; Wang J; Li M
Osteoporos Int; 2017 Oct; 28(10):2985-2995. PubMed ID: 28725987
[TBL] [Abstract][Full Text] [Related]
12. Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.
Hruskova L; Fijalkowski I; Van Hul W; Marik I; Mortier G; Martasek P; Mazura I
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Sep; 160(3):442-7. PubMed ID: 27132807
[TBL] [Abstract][Full Text] [Related]
13. Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
Xi L; Zhang H; Zhang ZL
J Bone Miner Metab; 2021 May; 39(3):416-422. PubMed ID: 33070251
[TBL] [Abstract][Full Text] [Related]
14. 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; 10(1):27. PubMed ID: 27519266
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S; Micale L; Ritelli M; Rohrbach M; Zoppi N; Vandersteen A; Mackay S; Agolini E; Cocciadiferro D; Sasaki E; Madeo A; Ferraris A; Reardon W; Di Rocco M; Novelli A; Grammatico P; Malfait F; Mazza T; Hakim A; Giunta C; Colombi M; Castori M
Clin Genet; 2020 Mar; 97(3):396-406. PubMed ID: 31794058
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 25944380
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 24682174
[TBL] [Abstract][Full Text] [Related]
19. Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.
Higuchi Y; Hasegawa K; Futagawa N; Yamashita M; Tanaka H; Tsukahara H
Mol Genet Genomic Med; 2021 Jun; 9(6):e1675. PubMed ID: 33939306
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]