| 1 | ACAP1, ADAMTS16, COL9A3, DHH, MAPK13, MDM2, OGN, SLC26A7, SPRR2D, TESC
|
| Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes.
|
| Beverdam A, Koopman P.
|
| Hum Mol Genet 15(3):417-31. Epub 2006 Jan 6. 2006
|
| 2 | COL9A3
|
| Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients.
|
| Asamura K, Abe S, Fukuoka H, Nakamura Y, Usami S.
|
| Auris Nasus Larynx 32(2):113-7. Epub 2005 Mar 24. 2005
|
| 3 | COL9A1, COL9A2, COL9A3, COMP, EDM1, EDM2, EDM3, EDM5, EDM6, MATN3, PSACH, SLC26A2
|
| Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
|
| Briggs MD, Chapman KL.
|
| Hum Mutat 19(5):465-78. Review. 2002
|
| 4 | COL9A3
|
| Identification of a novel common genetic risk factor for lumbar disk disease.
|
| Paassilta P, Lohiniva J, Goring HH, Perala M, Raina SS, Karppinen J, Hakala M, Palm T, Kroger H, Kaitila I, Vanharanta H, Ott J, Ala-Kokko L.
|
| JAMA 285(14):1843-9. 2001
|
| 5 | COL9A3, EDM3
|
| Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.
|
| Lohiniva J, Paassilta P, Seppanen U, Vierimaa O, Kivirikko S, Ala-Kokko L.
|
| Am J Med Genet 90(3):216-22. 2000
|
| 6 | COL9A3, EDM3
|
| A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
|
| Bonnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM.
|
| Proc Natl Acad Sci U S A 97(3):1212-7. 2000
|
| 7 | COL9A3, EDM3
|
| COL9A3: A Third Locus for Multiple Epiphyseal Dysplasia.
|
| Paassilta P, et al.
|
| Am J Hum Genet 64(4):1036-1044. 1999
|
| 8 | COL9A3
|
| Physical and linkage mapping of the gene for the alpha3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3.
|
| Tiller GE, Warman ML, Gong Y, Knoll JH, Mayne R, Brewton RG.
|
| Cytogenet Cell Genet 81(3-4):205-7. 1998
|
| 9 | COL9A3
|
| Molecular cloning of the alpha3 chain of human type IX collagen : linkage of the gene COL9A3 to chromosome 20q13.3.
|
| Brewton RG, Wood BM, Ren ZX, Gong Y, Tiller GE, Warman ML, Lee B, Horton WA, Olsen BR, Baker JR, et al.
|
| Genomics 30 : 329-336. 1995
|
| 10 | COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2
|
| Cartilage contains mixed fibrils of collagen types II, IX, and XI.
|
| Mendler M, Eich-Bender SG, Vaughan L, Winterhalter KH, Bruckner P.
|
| J Cell Biol 108(1):191-7 1989
|