|
Norris, R A; Scott, K K; Moore, C S et al. (2000) Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. Mamm Genome 11:1000-5
|
|
Wise, C A; Chiang, L C; Paznekas, W A et al. (1997) TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A 94:3110-5
|
|
Howard, T D; Guttmacher, A E; McKinnon, W et al. (1997) Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet 61:1405-12
|
|
Paznekas, W A; Zhang, N; Gridley, T et al. (1997) Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. Biochem Biophys Res Commun 238:1-6
|
|
Lewanda, A F; Meyers, G A; Jabs, E W (1996) Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects. Proc Assoc Am Physicians 108:19-24
|
|
Meyers, G A; Orlow, S J; Munro, I R et al. (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 11:462-4
|
|
Lewanda, A F; Morsey, S; Reid, C S et al. (1995) Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet 59:193-8
|
|
Park, W J; Theda, C; Maestri, N E et al. (1995) Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 57:321-8
|
|
Li, X; Park, W J; Pyeritz, R E et al. (1995) Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nat Genet 9:232-3
|
|
Park, W J; Meyers, G A; Li, X et al. (1995) Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4:1229-33
|
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