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Journal Abstract Search

195 related items for PubMed ID: 18523455

  • 1. A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
    Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P, Chaabouni H, Chelly J, Ben Jemaa L, Bahi-Buisson N.
    Eur J Hum Genet; 2008 Nov; 16(11):1358-63. PubMed ID: 18523455
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  • 2. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 3. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
    Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP.
    Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
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  • 4. The four mammalian splice variants encoded by the p21-activated kinase 3 gene have different biological properties.
    Kreis P, Rousseau V, Thévenot E, Combeau G, Barnier JV.
    J Neurochem; 2008 Aug; 106(3):1184-97. PubMed ID: 18507705
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  • 5. A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
    Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F, Chelly J, Chaabouni H.
    Eur J Med Genet; 2011 Aug; 54(3):241-6. PubMed ID: 21315190
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  • 10. Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
    Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE.
    Eur J Hum Genet; 2005 Feb; 13(2):176-83. PubMed ID: 15508018
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  • 14. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.
    Credille KM, Barnhart KF, Minor JS, Dunstan RW.
    Br J Dermatol; 2005 Jul; 153(1):51-8. PubMed ID: 16029326
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  • 16. X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.
    Gedeon AK, Nelson J, Gécz J, Mulley JC.
    Am J Med Genet A; 2003 Aug 01; 120A(4):509-17. PubMed ID: 12884430
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  • 17. A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.
    Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G.
    Hum Mol Genet; 2005 Apr 15; 14(8):1019-27. PubMed ID: 15746149
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  • 19. A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family.
    Mintchev N, Zamba-Papanicolaou E, Kleopa KA, Christodoulou K.
    Neurology; 2009 Jan 06; 72(1):28-32. PubMed ID: 19122027
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