| 1 | EDM1, EDM2, PSACH
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| Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
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| Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD.
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| Hum Mutat 33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.
2012
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| 2 | COMP, EDM1, PSACH
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| COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.
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| Chen TL, Posey KL, Hecht JT, Vertel BM.
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| J Cell Biochem 103(3):778-87.PMID: 17570134 2008
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| 3 | COMP, PSACH, EDM1
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| The heritable determinants of cartilage oligomeric matrix protein.
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| Williams FM, Andrew T, Saxne T, Heinegard D, Spector TD, MacGregor AJ.
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| Arthritis Rheum 54(7):2147-51. 2006
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| 4 | COMP, EDM1, PSACH
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| Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritis.
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| Koelling S, Clauditz TS, Kaste M, Miosge N.
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| Arthritis Res Ther 8(3):R56. Epub 2006 Mar 15. 2006
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| 5 | COMP, EDM1, PSACH
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| COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
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| Kennedy J, Jackson G, Ramsden S, Taylor J, Newman W, Wright MJ, Donnai D, Elles R, Briggs MD.
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| Eur J Hum Genet 13(5):547-55. 2005
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| 6 | COMP, EDM1, PSACH
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| Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
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| Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S.
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| Hum Genet 112(1):84-90. 2003
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| 7 | COMP, EDM1
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| A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
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| Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A.
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| J Med Genet 40(12):942-8. No abstract available. 2003
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| 8 | PSACH, COMP, EDM1
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| Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
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| Song HR, Lee KS, Li QW, Koo SK, Jung SC.
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| J Hum Genet 48(5):222-5. Epub 2003 Apr 24. 2003
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| 9 | COL9A1, COL9A2, COL9A3, COMP, EDM1, EDM2, EDM3, EDM5, EDM6, MATN3, PSACH, SLC26A2
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| Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
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| Briggs MD, Chapman KL.
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| Hum Mutat 19(5):465-78. Review. 2002
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| 10 | COMP, EDM1, PSACH
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| Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
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| Delot E, King LM, Briggs MD, Wilcox WR, Cohn DH.
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| Hum Mol Genet 8 : 123-128. 1999
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| 11 | COMP, EDM1, PSACH
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| Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
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| Deere M, et al.
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| Am J Med Genet 85(5):486-90. 1999
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| 12 | COMP, EDM1, PSACH
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| Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
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| Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH.
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| Am J Hum Genet 62(2):311-9. 1998
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| 13 | COMP, EDM1, PSACH
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| Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.
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| Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y.
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| Hum Genet 103 : 633-638. 1998
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| 14 | COMP, EDM1
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| Multiple epiphyseal dysplasia, Ribbing type : a novel point mutation in the COMP gene in a South African family.
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| Ballo R, et al.
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| Am J Med Genet 68 : 396-400. 1997
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| 15 | COMP, EDM1, PSACH
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| Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.
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| Susic S, McGrory J, Ahier J, Cole WG.
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| Clin Genet 51(4):219-24. 1997
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| 16 | EDM1
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| Genetic heterogeneity in multiple-epiphyseal dysplasia.
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| Deere M, et al.
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| Am J Hum Genet 56 : 698-704. 1995
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| 17 | COMP, EDM1, PSACH
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| Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
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| Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, et al.
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| Nat Genet 10 : 330-336. 1995
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| 18 | EDM1, PSACH
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| High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.
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| Knowlton RG, et al.
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| Genomics 28 : 513-519. 1995
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| 19 | EDM1
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| Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.
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| Oehlmann R, et al.
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| Am J Hum Genet 54 : 3-10. 1994
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| 20 | PSACH, EDM1
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| A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia : exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.
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| Rimoin DL, et al.
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| Hum Genet 93 : 236-242. 1994
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