Citations for
1AIRE, ATR, BCOR, CCD, COL1A1, COL1A2, CRDAI, CYP27B1, DLX", FTC1, GALNT3, HPC3, NHS, OFCD, OI1A, OI1B, PCNT, PDDR, PGA1, RUNX2, SCKL, SCKL1, SCKL2, SCKL3, SHH, SIOD, SMARCAL1, TDOS, VDDR2, VDR, WHS
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A.
Eur J Med Genet 51(5):383-408. Epub 2008 May 23. Review. 2008
2COL1A1, COL1A2, OI1B , OI2B , OI3B , OI4B
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 27(6):599. 2006
3COL1A2, OI1B
Splice site mutation causing deletion of exon 21 sequences from the Proalpha2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.
Nicholls AC, et al.
Hum Mutat 7 : 219-227. 1996
4OI1B, COL1A2
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in proalpha2(I) collagen mRNA and produces mild osteogenesis imperfecta.
Mottes M, et al.
Hum Genet 93 : 681-687. 1994
5COL1A2, OI1B
Substitution of an aspartic acid for glycine 700 in the alpha2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.
Cohen-Solal L, et al.
J Biol Chem 269 : 14751-14758. 1994
6OI1B, COL1A2
Deletion of 19 base pairs in intron 13 of the gene for the pro-alpha2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.
Zhuang J, et al.
Hum Genet 91 : 210-216. 1993
7OI1B, COL1A2
Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.
Sztrolovics R, et al.
Hum Mol Genet 2 : 1319-1321. 1993
8OI1B, COL1A2
A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta.
Pepe G.
Hum Mutat 2 : 300-305. 1993
9OI1B, COL1A2
The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility : exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele.
Nicholls AC, et al.
Hum Genet 88 : 627-633. 1992