Invited commentary: Current issues in obstetrics and genetics: Prenatal molecular diagnosis of L1-spectrum disorders

Prenatal Diagnosis

Volumn 20, Issue 9, 2000, Pages 744-745

  Finckh, Ulrich ^a   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME XQ; CONGENITAL HYDROCEPHALUS; DIFFERENTIAL DIAGNOSIS; GENE ISOLATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR GENETICS; NEWBORN; NOTE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYNDROME DELINEATION; ANIMAL; FEMALE; GENETICS; HYDROCEPHALUS; MALE; MOUSE; MOUSE MUTANT; MUTATION; NUCLEOTIDE SEQUENCE; REVIEW;

CALGRANULIN; MEMBRANE PROTEIN; NERVE CELL ADHESION MOLECULE;

ANIMALS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYDROCEPHALUS; LEUKOCYTE L1 ANTIGEN COMPLEX; MALE; MEMBRANE GLYCOPROTEINS; MICE; MICE, KNOCKOUT; MUTATION; NEURAL CELL ADHESION MOLECULES; PRENATAL DIAGNOSIS;

EID: 0034267017     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200009)20:9<744::aid-pd865>3.0.co;2-w     Document Type: Note

References (16)

1. Recurrence risks for congenital hydrocephalus
2. Characterization of Pax-6 and Hoxa-1 binding to the promoter region of the neural cell adhesion molecule L1
3. Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus
4. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease
5. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule
6. X-linked hydrocephalus: A survey of a 20 year period in Victoria, Australia
7. Structural and functional evolution of the L1 family: Are four adhesion molecules better than one?
8. Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X-linked hydrocephalus
9. Role of L1 in neural development: What the knockouts tell us
10. A binding site for homeodomain and pax proteins is necessary for L1 cell adhesion molecule gene expression by pax-6 and bone morpho-genetic proteins
11. Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin
12. Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA
13. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
14. Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling
15. A nonneuronal isoform of cell adhesion molecule L1: Tissue-specific expression and functional analysis
16. Evidence for somatic and germline mosaicism in CRASH syndrome