BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 2737668)

  • 1. MASA syndrome: further clinical delineation and chromosomal localisation.
    Winter RM; Davies KE; Bell MV; Huson SM; Patterson MN
    Hum Genet; 1989 Jul; 82(4):367-70. PubMed ID: 2737668
    [TBL] [Abstract][Full Text] [Related]  

  • 2. MASA syndrome: new clinical features and linkage analysis using DNA probes.
    Schrander-Stumpel C; Legius E; Fryns JP; Cassiman JJ
    J Med Genet; 1990 Nov; 27(11):688-92. PubMed ID: 2277384
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.
    Legius E; Kaepernick L; Higgins JV; Glover TW
    Clin Genet; 1994 Apr; 45(4):165-8. PubMed ID: 8062432
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Agenesis of the corpus callosum associated with MASA syndrome.
    Boyd E; Schwartz CE; Schroer RJ; May MM; Shapiro SD; Arena JF; Lubs HA; Stevenson RE
    Clin Dysmorphol; 1993 Oct; 2(4):332-41. PubMed ID: 8305964
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28.
    Macias VR; Day DW; King TE; Wilson GN
    Am J Med Genet; 1992 Apr 15-May 1; 43(1-2):408-14. PubMed ID: 1605219
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].
    Stoll C; Alembik Y; Pfindel M; Chauvin A; Hanauer A
    Arch Fr Pediatr; 1993 Oct; 50(8):665-9. PubMed ID: 7516145
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MASA syndrome: clinical variability and linkage analysis.
    Rietschel M; Friedl W; Uhlhaas S; Neugebauer M; Heimann D; Zerres K
    Am J Med Genet; 1991 Oct; 41(1):10-4. PubMed ID: 1951449
    [TBL] [Abstract][Full Text] [Related]  

  • 8. X-linked hydrocephalus: clinical heterogeneity at a single gene locus.
    Serville F; Lyonnet S; Pelet A; Reynaud M; Louail C; Munnich A; Le Merrer M
    Eur J Pediatr; 1992 Jul; 151(7):515-8. PubMed ID: 1396913
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
    Fransen E; Lemmon V; Van Camp G; Vits L; Coucke P; Willems PJ
    Eur J Hum Genet; 1995; 3(5):273-84. PubMed ID: 8556302
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
    Strain L; Wright AF; Bonthron DT
    J Med Genet; 1997 Jul; 34(7):535-40. PubMed ID: 9222959
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Linkage studies of X-linked recessive spastic paraplegia using DNA probes.
    Kenwrick S; Ionasescu V; Ionasescu G; Searby C; King A; Dubowitz M; Davies KE
    Hum Genet; 1986 Jul; 73(3):264-6. PubMed ID: 3460961
    [TBL] [Abstract][Full Text] [Related]  

  • 12. MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.
    Schrander-Stumpel C; Fryns J; Cassiman JJ; Legius E; Spaepen A; Höweler CJ
    J Med Genet; 1992 Mar; 29(3):215. PubMed ID: 1552562
    [No Abstract]   [Full Text] [Related]  

  • 13. Clinical aspects of the MASA syndrome in a large family, including expressing females.
    Kaepernick L; Legius E; Higgins J; Kapur S
    Clin Genet; 1994 Apr; 45(4):181-5. PubMed ID: 8062435
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter.
    Dlouhy SR; Christian JC; Haines JL; Conneally PM; Hodes ME
    Hum Genet; 1987 Feb; 75(2):136-9. PubMed ID: 3469136
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
    Schrander-Stumpel C; Meyer H; Merckx D; Jones M; Israel J; Sommer A; Stevens C; Tinschert S; Wilson G; Willems P
    Genet Couns; 1994; 5(1):1-10. PubMed ID: 8031529
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
    Fransen E; Schrander-Stumpel C; Vits L; Coucke P; Van Camp G; Willems PJ
    Hum Mol Genet; 1994 Dec; 3(12):2255-6. PubMed ID: 7881431
    [No Abstract]   [Full Text] [Related]  

  • 17. The MASA syndrome: a new heritable mental retardation syndrome.
    Bianchine JW; Lewis RC
    Clin Genet; 1974; 5(4):298-306. PubMed ID: 4855169
    [No Abstract]   [Full Text] [Related]  

  • 18. Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28.
    Biancalana V; Le Marec B; Odent S; van den Hurk JA; Hanauer A
    Hum Genet; 1991 Dec; 88(2):228-30. PubMed ID: 1757098
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X linked hydrocephalus and MASA syndrome.
    Kenwrick S; Jouet M; Donnai D
    J Med Genet; 1996 Jan; 33(1):59-65. PubMed ID: 8825051
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.
    Wilson GN; Richards CS; Katz K; Brookshire GS
    J Med Genet; 1992 Sep; 29(9):629-34. PubMed ID: 1357179
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.