Mutations in RAI1 associated with Smith-Magenis syndrome

Nature Genetics

Volumn 33, Issue 4, 2003, Pages 466-468

  Slager, Rebecca E ^a   Newton, Tiffany Lynn ^a   Vlangos, Christopher N ^a   Finucane, Brenda ^b   Elsea, Sarah H ^a  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b Elwyn   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BONE DISEASE; CHROMOSOME 17P; CLINICAL ARTICLE; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RAI1 GENE; SLEEP DISORDER; SMITH MAGENIS SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL DISORDERS; MENTAL RETARDATION; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEINS; SELF-INJURIOUS BEHAVIOR; SLEEP DISORDERS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0344177207     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1126     Document Type: Article

References (15)

1. Greenberg, F. et al. Am. J. Hum. Genet. 49, 1207-1218 (1991).
2. Smith, A.C. et al. Am. J. Hum. Genet. 24, 393-414 (1986).
3. Greenberg, F. et al. Am. J. Hum. Genet. 62, 247-254 (1996).
4. Elsea, S.H. et al. Cytogenet. Cell Genet. 79, 276-281 (1997).
5. Juyal, R.C. et al. Am. J. Hum. Genet. 58, 998-1007 (1996).
6. Bi, W. et al. Genome Res. 12, 713-728 (2002).
7. Vlangos, C.N., Slager, R.E., Yim, D.K.C. & Elsea, S.H. Mol. Genet. Metab. (in the press).
8. Lucas, R.E., Vlangos, C.N., Das, P., Patel, P.I. & Elsea, S.H. Eur. J. Hum. Genet. 9, 892-902 (2001).
9. Smith, A.C., Dykens, E. & Greenberg, F. Am. J. Med. Genet. 81, 179-185 (1998).
10. Imai, Y. et al. Brain Res. Mol. Brain Res. 31, 1-9 (1995).
11. Rekdal, C., Sjottem, E. & Johansen, T. J. Biol. Chem. 275, 40288-40300 (2000).
12. Seranski, P. et al. Gene 270, 69-76 (2001).
13. Ewart, A.K. et al. Nat. Genet. 5, 11-16 (1993).
14. Oda, T. et al. Nat. Genet. 16, 235-242 (1997).
15. Kishino, T., Lalande, M. & Wagstaff, J. Nat. Genet. 15, 70-73 (1997).