L1-associated diseases: Clinical geneticists divide, molecular geneticists unite

Human Molecular Genetics

Volumn 6, Issue 10 REV. ISS., 1997, Pages 1625-1632

  Fransen, Erik ^a   Van Camp, Guy ^a   Vits, Lieve ^a   Willems, Patrick J ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; IMMUNOGLOBULIN; LIGAND; MEMBRANE PROTEIN; NERVE CELL ADHESION MOLECULE;

ARTICLE; CLINICAL FEATURE; CONGENITAL HYDROCEPHALUS; CORPUS CALLOSUM AGENESIS; GENE MUTATION; GENE STRUCTURE; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MENTAL DEFICIENCY; MOLECULAR CLONING; NERVE CELL; NERVE FIBER GROWTH; NERVOUS SYSTEM DEVELOPMENT; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN PROTEIN INTERACTION; SCHWANN CELL; SECOND MESSENGER; SIGNAL TRANSDUCTION; SYNDROME DELINEATION; THUMB MALFORMATION; X CHROMOSOME LINKED DISORDER;

ANIMALS; ANTIGENS, SURFACE; BASE SEQUENCE; CORPUS CALLOSUM; HUMANS; HYDROCEPHALUS; LEUKOCYTE L1 ANTIGEN COMPLEX; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; NERVOUS SYSTEM DISEASES; NERVOUS SYSTEM MALFORMATIONS; NERVOUS SYSTEM PHYSIOLOGY; NEURAL CELL ADHESION MOLECULES; PARAPLEGIA; SYNDROME; X CHROMOSOME;

EID: 0030760042     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.10.1625     Document Type: Article

References (9)

1. Bickers,D.S. and Adams,R.D. (1949) Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus. Brain 72, 246-262.
2. Willems,P.J., Brouwer,O.F., Dijkstra,I. and Wilmink,J. (1987) X-linked hydrocephalus. Am. J. Med. Genet. 27, 921-928.
3. Schrander-Stumpel,C., Höweler,C., Jones,M., Sommer,A., Stevens,C., Tinschert,S., Israel,J. and Fryns,J.P. (1995) Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): clinical review with six additional families. Am. J. Med. Genet. 57, 107-116.
4. Yamasaki,M., Arita,N., Hiraga,S., Izumoto,S., Morimoto,K., Nakatani,S., Fujitani,K., Sato,N. and Hayakawa,T. (1995) A clinical and neuroradiological study of X-linked hydrocephalus in Japan. J. Neurosurg. 83, 50-55.
5. Kenwrick,S., Jouet,M. and Donnai,D. (1996) X linked hydrocephalus and MASA syndrome. J. Med. Genet. 33, 59-65.
6. Halliday,J., Chow,C.W., Wallace,D. and Danks,D.M. (1986) X-linked hydrocephalus: A survey of a 20 year period in Victoria, Australia. J. Med. Genet. 23, 23-31.
7. Serville,F., Lyonnet,S., Pelet,A., Reynaud,M., Louial,C, Munnich,A. and Le Merrer,M. (1992) X-linked hydrocephalus: clinical heterogeneity at a single gene locus. Eur. J. Pediatr. 151, 515-518.
8. Willems,P.J., Dijkstra,I., Van der Auwera,B.J., Vits,L., Coucke,P., Raeymakers,P., Van Broeckhoven,C., Consalez,G.G., Freeman,S.B., Warren,S.T., Brouwer,O.F., Brunner,H.G., Renier,W.O., Van Elsen,A.F. and Dumon,J.E. (1990) Assignment of X-linked hydrocephalus to Xq28 by linkage analysis. Genomics 8, 367-370.
9. Willems,P.J., Vits,L., Raymakers,P., Beuten,J., Coucke,P., Holden,J.J.A., Van Broeckhoven,C., Warren,S.T., Sagi,M., Robinson,D., Dennis,N., Friedman,K.S., Magnay,D., Lyonnet,S., White,B.N., Wittwer,B.H., Aylsworth,A.S. and Reicke,S. (1992) Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Am. J. Hum. Genet. 51, 307-315.