Melkoniemi, M; Brunner, H G; Manouvrier, S et al. (2000) Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet 66:368-77
|
Warman, M L (2000) Human genetic insights into skeletal development, growth, and homeostasis. Clin Orthop Relat Res :S40-54
|
Hurvitz, J R; Suwairi, W M; Van Hul, W et al. (1999) Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet 23:94-8
|
Gong, Y; Chitayat, D; Kerr, B et al. (1999) Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. Am J Hum Genet 64:570-7
|
Marcelino, J; Carpten, J D; Suwairi, W M et al. (1999) CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Nat Genet 23:319-22
|
Gong, Y; Krakow, D; Marcelino, J et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet 21:302-4
|
Sirko-Osadsa, D A; Murray, M A; Scott, J A et al. (1998) Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr 132:368-71
|
Bahabri, S A; Suwairi, W M; Laxer, R M et al. (1998) The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum 41:730-5
|
Kant, S G; Polinkovsky, A; Mundlos, S et al. (1998) Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. Am J Hum Genet 63:155-62
|
Polinkovsky, A; Robin, N H; Thomas, J T et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet 17:18-9
|