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PUBMED FOR HANDHELDS

Journal Abstract Search

171 related items for PubMed ID: 4855169

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  • 4. 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
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  • 6. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.
    Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J.
    Hum Hered; 1973 Dec; 23(6):568-85. PubMed ID: 4134631
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  • 7. Familial C-G translocation in three relatives associated with severe mental retardation, short stature, unusual dermatoglyphics and other malformations.
    Yanagisawa S, Hiraoka K.
    J Ment Defic Res; 1971 Jun; 15(2):136-46. PubMed ID: 5559234
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  • 9. 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. Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females.
    Gall JC, Stern AM, Poznanski AK, Garn SM, Weinstein ED, Hayward JR.
    Am J Hum Genet; 1972 Jan; 24(1):24-36. PubMed ID: 5012690
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  • 15. [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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  • 16. [Familial translocation t(3;22) detected in a carrier child with mental retardation and other abnormalities].
    Gregori Romero M, Gil Benso R, López Ginés C, Pellín Pérez A, Barberá Guillem E.
    An Esp Pediatr; 1984 Oct 31; 21(6):593-6. PubMed ID: 6524770
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  • 18. Johanson-Blizzard syndrome in a large inbred kindred with three involved members.
    Mardini MK, Ghandour M, Sakati NA, Nyhan WL.
    Clin Genet; 1978 Nov 31; 14(5):247-50. PubMed ID: 709902
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