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2. 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]
3. [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta]. Qin W; He JX; Shi J; Xing QH; Gao JJ; He L; Qian XQ; Liu ZJ; Shu AL; He L Yi Chuan Xue Bao; 2005 Mar; 32(3):248-52. PubMed ID: 15931785 [TBL] [Abstract][Full Text] [Related]
4. Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. Wang SK; Chan HC; Makovey I; Simmer JP; Hu JC PLoS One; 2012; 7(12):e51533. PubMed ID: 23227268 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4q. MacDougall M; Jeffords LG; Gu TT; Knight CB; Frei G; Reus BE; Otterud B; Leppert M; Leach RJ J Dent Res; 1999 Jun; 78(6):1277-82. PubMed ID: 10371253 [TBL] [Abstract][Full Text] [Related]
7. Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. Malmgren B; Andersson K; Lindahl K; Kindmark A; Grigelioniene G; Zachariadis V; Dahllöf G; Åström E Oral Dis; 2017 Jan; 23(1):42-49. PubMed ID: 27510842 [TBL] [Abstract][Full Text] [Related]
8. A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family. Liu W; Gu F; Ji J; Lu D; Li X; Ma X Mol Vis; 2007 Mar; 13():360-5. PubMed ID: 17392686 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. Zhang X; Chen L; Liu J; Zhao Z; Qu E; Wang X; Chang W; Xu C; Wang QK; Liu M BMC Med Genet; 2007 Aug; 8():52. PubMed ID: 17686168 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. [A new mutation in COL1A1 gene in a family with osteogenesis imperfecta]. Wang Z; Xu DL; Chen Z; Hu JY; Yang Z; Wang LT Zhonghua Yi Xue Za Zhi; 2006 Jan; 86(3):170-3. PubMed ID: 16638323 [TBL] [Abstract][Full Text] [Related]
13. An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc. Boughman JA; Halloran SL; Roulston D; Schwartz S; Suzuki JB; Weitkamp LR; Wenk RE; Wooten R; Cohen MM J Craniofac Genet Dev Biol; 1986; 6(4):341-50. PubMed ID: 3793857 [TBL] [Abstract][Full Text] [Related]
14. Genetic marker study of dentinogenesis imperfecta. Crall MG; Schuler CF; Buetow KH; Murray JC Proc Finn Dent Soc; 1992; 88 Suppl 1():285-93. PubMed ID: 1508884 [TBL] [Abstract][Full Text] [Related]
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16. A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta. Fan N; Jonas JB; He F; Yan NH; Wang Y; Liu L; Liu DL; Zhao L; Pang IH; Liu XY Genet Mol Res; 2015 Nov; 14(4):15295-300. PubMed ID: 26634493 [TBL] [Abstract][Full Text] [Related]
17. Dentinogenesis imperfecta type II in Swedish children and adolescents. Andersson K; Malmgren B; Åström E; Dahllöf G Orphanet J Rare Dis; 2018 Aug; 13(1):145. PubMed ID: 30134932 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta. Nicholls AC; Oliver J; McCarron S; Winter GB; Pope FM Hum Mutat; 1996; 7(3):219-27. PubMed ID: 8829655 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]