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Journal Abstract Search

219 related items for PubMed ID: 8305964

  • 1. 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
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  • 3. 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 Oct; 3(5):273-84. PubMed ID: 8556302
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  • 6. 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
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  • 7. 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
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  • 12. [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
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  • 13. 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(1):43-51. PubMed ID: 33415589
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  • 16. New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.
    Proud VK, Levine C, Carpenter NJ.
    Am J Med Genet; 2021 Mar; 43(1-2):458-66. PubMed ID: 1605226
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  • 17. CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
    Yamasaki M, Thompson P, Lemmon V.
    Neuropediatrics; 1997 Jun; 28(3):175-8. PubMed ID: 9266556
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  • 18. 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
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  • 20. Three cases with L1 syndrome and two novel mutations in the L1CAM gene.
    Marín R, Ley-Martos M, Gutiérrez G, Rodríguez-Sánchez F, Arroyo D, Mora-López F.
    Eur J Pediatr; 2015 Nov; 174(11):1541-4. PubMed ID: 25948108
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