Project Start
1992-03-01
Project End
1997-02-28
Budget Start
1996-03-01
Budget End
1997-02-28
Support Year
5
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
Gripp, K W; McDonald-McGinn, D M; Gaudenz, K et al. (1998) Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. J Pediatr 132:714-6
Muenke, M; Gripp, K W; McDonald-McGinn, D M et al. (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-64
Quaderi, N A; Schweiger, S; Gaudenz, K et al. (1997) Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet 17:285-91
Roessler, E; Belloni, E; Gaudenz, K et al. (1996) Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14:357-60
Robin, N H; Segel, B; Carpenter, G et al. (1996) Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes. Am J Med Genet 62:184-91
Bellus, G A; Gaudenz, K; Zackai, E H et al. (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-6
Kao, F T; Yu, J; Qi, J et al. (1995) A region-specific microdissection library for human chromosome 2p23-->p21 and the analysis of an interstitial deletion of 2p21. Cytogenet Cell Genet 68:17-8
Schell, U; Hehr, A; Feldman, G J et al. (1995) Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4:323-8
Feldman, G J; Robin, N H; Brueton, L A et al. (1995) A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. Am J Hum Genet 56:938-43
Robin, N H; Feldman, G J; Aronson, A L et al. (1995) Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet 11:459-61

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