Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
5R01NS031367-04
Application #
2269293
Study Section
Mammalian Genetics Study Section (MGN)
Program Officer
Spinella, Giovanna M
Project Start
1993-02-01
Project End
1998-01-31
Budget Start
1996-02-01
Budget End
1998-01-31
Support Year
4
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Baylor College of Medicine
Department
Pediatrics
Type
Schools of Medicine
DUNS #
074615394
City
Houston
State
TX
Country
United States
Zip Code
77030
Cox, T C; Cox, L L; Ballabio, A (1998) A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region. Eur J Hum Genet 6:406-12
Van den Veyver, I B; Cormier, T A; Jurecic, V et al. (1998) Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics 51:251-61
Zoghbi, H Y (1997) Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders. Pediatr Res 41:722-6
Schaefer, L; Prakash, S; Zoghbi, H Y (1997) Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Genomics 46:268-77
Schaefer, L; Ballabio, A; Zoghbi, H Y (1996) Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics 34:166-72
Schiaffino, M V; Bassi, M T; Rugarli, E I et al. (1995) Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet 4:373-82
Franco, B; Meroni, G; Parenti, G et al. (1995) A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81:15-25
Bassi, M T; Schiaffino, M V; Renieri, A et al. (1995) Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet 10:13-9
Ferrero, G B; Franco, B; Roth, E J et al. (1995) An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet 4:1821-7
Lindsay, E A; Grillo, A; Ferrero, G B et al. (1994) Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet 49:229-34

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