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Journal Abstract Search

427 related items for PubMed ID: 8809896

  • 1. 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; 16(6):543-8. PubMed ID: 8809896
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  • 3. 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; 21(13):1129-32. PubMed ID: 11787037
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  • 4. 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 Dec; 3(5):273-84. PubMed ID: 8556302
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  • 8. 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
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Stumpel C, Vos YJ.
    ; 1993 May 22. PubMed ID: 20301657
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  • 13. Prenatal diagnosis of intracranial lipoma associated with agenesis of the corpus callosum.
    Bork MD, Smeltzer JS, Egan JF, Rodis JF, DiMario FJ, Campbell WA.
    Obstet Gynecol; 1996 May 22; 87(5 Pt 2):845-8. PubMed ID: 8677111
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  • 14. Outcome of partial agenesis of corpus callosum.
    De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L.
    Am J Obstet Gynecol; 2024 Apr 22; 230(4):456.e1-456.e9. PubMed ID: 37816486
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  • 15. Agenesis of the corpus callosum: neonatal sonographic detection.
    Penny SM.
    Radiol Technol; 2006 Apr 22; 78(1):14-8. PubMed ID: 16998191
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  • 18. 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 Apr 22; 5(1):1-10. PubMed ID: 8031529
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  • 19. 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
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