793 related articles for article (PubMed ID: 27509835)
1. 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]
2. 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]
3. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
Tüysüz B; Elkanova L; Uludağ Alkaya D; Güleç Ç; Toksoy G; Güneş N; Yazan H; Bayhan AI; Yıldırım T; Yeşil G; Uyguner ZO
Bone; 2022 Feb; 155():116293. PubMed ID: 34902613
[TBL] [Abstract][Full Text] [Related]
4. 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]
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. 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]
7. 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]
8. 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]
9. 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]
10. Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
Augusciak-Duma A; Witecka J; Sieron AL; Janeczko M; Pietrzyk JJ; Ochman K; Galicka A; Borszewska-Kornacka MK; Pilch J; Jakubowska-Pietkiewicz E
Acta Biochim Pol; 2018; 65(1):79-86. PubMed ID: 29543922
[TBL] [Abstract][Full Text] [Related]
11. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
Stephen J; Shukla A; Dalal A; Girisha KM; Shah H; Gupta N; Kabra M; Dabadghao P; Hasegawa K; Tanaka H; Phadke SR
Am J Med Genet A; 2014 Jun; 164A(6):1482-9. PubMed ID: 24668929
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.
Zhytnik L; Maasalu K; Duy BH; Pashenko A; Khmyzov S; Reimann E; Prans E; Kõks S; Märtson A
Hum Genomics; 2019 Jun; 13(1):25. PubMed ID: 31159867
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
Bardai G; Ward LM; Trejo P; Moffatt P; Glorieux FH; Rauch F
Osteoporos Int; 2017 Jul; 28(7):2095-2101. PubMed ID: 28378289
[TBL] [Abstract][Full Text] [Related]
16. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
Stephen J; Girisha KM; Dalal A; Shukla A; Shah H; Srivastava P; Kornak U; Phadke SR
Eur J Med Genet; 2015 Jan; 58(1):21-7. PubMed ID: 25450603
[TBL] [Abstract][Full Text] [Related]
17. Genotype and malocclusion in patients with osteogenesis imperfecta.
Jabbour Z; Al-Khateeb A; Eimar H; Retrouvey JM; Rizkallah J; Glorieux FH; Rauch F; Tamimi F
Orthod Craniofac Res; 2018 May; 21(2):71-77. PubMed ID: 29388328
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
