171 related articles for article (PubMed ID: 36951356)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L; Liu B; Dong X; Wu J; Sun C; Xi L; Cheng R; Wu B; Wang H; Tong S; Wang D; Luo F
Osteoporos Int; 2022 Jun; 33(6):1373-1384. PubMed ID: 35044492
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation.
Kantaputra PN; Sirirungruangsarn Y; Intachai W; Ngamphiw C; Tongsima S; Dejkhamron P
J Hum Genet; 2018 Jul; 63(7):811-820. PubMed ID: 29636545
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Phenotypic features of dentinogenesis imperfecta associated with osteogenesis imperfecta and COL1A2 mutations.
Nutchoey O; Intarak N; Theerapanon T; Thaweesapphithak S; Boonprakong L; Srijunbarl A; Porntaveetus T; Shotelersuk V
Oral Surg Oral Med Oral Pathol Oral Radiol; 2021 Jun; 131(6):694-701. PubMed ID: 33737018
[TBL] [Abstract][Full Text] [Related]
18. 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]
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.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]