Citations for

1	AIRE, 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
2	COL1A1, OI1A, OI2A, OI3A, OI4A
	Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis.
	Cabral WA, Milgrom S, Letocha AD, Moriarty E, Marini JC.
	J Med Genet 43(8):685-90. 2006
3	OI1A, OI2A, COL1A1
	Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.
	Schwarze U, et al.
	Am J Hum Genet 65(2):336-44. 1999
4	COL1A1, OI1A, OI2A, OI3A
	Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I : identification of common sequences of null-allele mutations.
	Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ.
	Am J Hum Genet 62(1):98-110. 1998
5	COL1A1, OI1A, OI3A
	Serine for glycine substitutions in the C-terminal third of the alpha1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
	Lund AM, et al.
	Hum Mutat 9 : 378-382. 1997
6	OI1A, COL1A1
	Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.
	Redford-Badwal DA, et al.
	J Clin Invest 97 : 1035-1040. 1996
7	COL1A1, OI1A
	Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell Strains.
	Willing MC, et al.
	Am J Hum Genet 59 : 799-809. 1996
8	OI1A
	Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.
	Willing MC, et al.
	J Med Genet 32 : 697-700. 1995
9	COL1A1, OI1A
	Paternal mosaicism for a COL1A1 dominant mutation (alpha1 Ser-415) causes recurrent osteogenesis imperfecta.
	Mottes M, et al.
	Hum Mutat 2 : 196-204. 1993
10	COL1A1, OI1A
	Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.
	Stover ML, et al.
	J Clin Invest 92 : 1994-2002. 1993
11	OI1A, COL1A1
	An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the Pro-alpha-1(I) chain of type I collagen.
	Shapiro JR, et al.
	J Clin Invest 89 : 567-573. 1992
12	OI1A, COL1A1
	Mild dominant osteogenesis imperfecta with intrafamilial variability : the cause is a serine for glycine alpha1(I) 901 substitution in a type-1 collagen gene.
	Mottes M, et al.
	Hum Genet 89 : 480-484. 1992
13	OI1A, COL1A1
	Osteogenesis imperfecta type I is commonly due to a COLIAI null allele of type I collagen.
	Willing MC, et al.
	Am J Hum Genet 51 : 508-515. 1992
14	OI1A, COL1A1
	The substitution of arginine for glycine 85 of the alpha1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type 1 collagen.
	Deak SB, et al.
	J Biol Chem 266 : 21827-21832. 1991
15	OI1A, OI2A, OI3A, OI3B, OI4A, OI2B
	Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci : COLIA1 and COLIA2.
	Sykes B, et al.
	Am J Hum Genet 46 : 293-307. 1990
16	OI1A, OI2B, OI3B, OI4A, OI4B, OI2A, OI3A
	Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.
	Lamande SR, et al.
	J Biol Chem 264 : 15809-15812. 1989