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Journal Abstract Search

198 related items for PubMed ID: 1396913

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence using closely linked DNA markers.
    Serville F, Benit P, Saugier P, Vibert M, Royer G, Pelet A, Chery M, Munnich A, Lyonnet S.
    Prenat Diagn; 1993 Jun; 13(6):435-9. PubMed ID: 8372068
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 Apr; 3(5):273-84. PubMed ID: 8556302
    [Abstract] [Full Text] [Related]

  • 7. Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.
    Schrander-Stumpel C, Höweler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, Fryns JP.
    Am J Med Genet; 1995 May 22; 57(1):107-16. PubMed ID: 7645588
    [Abstract] [Full Text] [Related]

  • 8. Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.
    Senat MV, Bernard JP, Delezoide A, Saugier-Veber P, Hillion Y, Roume J, Ville Y.
    Prenat Diagn; 2001 Dec 22; 21(13):1129-32. PubMed ID: 11787037
    [Abstract] [Full Text] [Related]

  • 9. X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
    Bousquet I, Bozon M, Castellani V, Touraine R, Piton A, Gérard B, Guibaud L, Sanlaville D, Edery P, Saugier-Veber P, Putoux A.
    Neurogenetics; 2021 Mar 22; 22(1):43-51. PubMed ID: 33415589
    [Abstract] [Full Text] [Related]

  • 10. Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
    Jouet M, Feldman E, Yates J, Donnai D, Paterson J, Siggers D, Kenwrick S.
    J Med Genet; 1993 Mar 22; 30(3):214-7. PubMed ID: 8474107
    [Abstract] [Full Text] [Related]

  • 11. MASA syndrome: further clinical delineation and chromosomal localisation.
    Winter RM, Davies KE, Bell MV, Huson SM, Patterson MN.
    Hum Genet; 1989 Jul 22; 82(4):367-70. PubMed ID: 2737668
    [Abstract] [Full Text] [Related]

  • 12. Transvaginal sonographic detection of adducted thumbs, hydrocephalus, and agenesis of the corpus callosum at 22 postmenstrual weeks: the masa spectrum or L1 spectrum. A case report and review of the literature.
    Timor-Tritsch IE, Monteagudo A, Haratz-Rubinstein N, Levine RU.
    Prenat Diagn; 1996 Jun 22; 16(6):543-8. PubMed ID: 8809896
    [Abstract] [Full Text] [Related]

  • 13. X-linked hydrocephalus, with aqueductal stenosis, mental retardation, and adduction-flexion deformity of the thumbs. Report of a family.
    Faivre J, Lemarec B, Bretagne J, Pecker J.
    Childs Brain; 1976 Jun 22; 2(4):226-33. PubMed ID: 991665
    [Abstract] [Full Text] [Related]

  • 14. 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 Jun 22; 5(1):1-10. PubMed ID: 8031529
    [Abstract] [Full Text] [Related]

  • 15.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Stumpel C, Vos YJ.
    ; 1993 Jun 22. PubMed ID: 20301657
    [Abstract] [Full Text] [Related]

  • 16. Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
    Ruiz JC, Cuppens H, Legius E, Fryns JP, Glover T, Marynen P, Cassiman JJ.
    J Med Genet; 1995 Jul 22; 32(7):549-52. PubMed ID: 7562969
    [Abstract] [Full Text] [Related]

  • 17. CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
    Yamasaki M, Thompson P, Lemmon V.
    Neuropediatrics; 1997 Jun 22; 28(3):175-8. PubMed ID: 9266556
    [Abstract] [Full Text] [Related]

  • 18. The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.
    Lyonnet S, Pelet A, Royer G, Delrieu O, Serville F, le Marec B, Gruensteudel A, Pfeiffer RA, Briard ML, Dubay C.
    Genomics; 1992 Oct 22; 14(2):508-10. PubMed ID: 1427869
    [Abstract] [Full Text] [Related]

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  • 20. 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 22; 45(4):181-5. PubMed ID: 8062435
    [Abstract] [Full Text] [Related]

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