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Journal Abstract Search

338 related items for PubMed ID: 18487380

  • 1. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
    Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W.
    Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4096-104. PubMed ID: 18487380
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  • 4. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
    Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH.
    Ophthalmology; 2006 Nov; 113(11):2066.e1-10. PubMed ID: 16935340
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  • 5. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
    Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H.
    Genomics; 1999 Dec 15; 62(3):332-43. PubMed ID: 10644430
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  • 8. Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness.
    Sharp CW, Muir WJ, Blackwood DH, Walker M, Gosden C, St Clair DM.
    Am J Med Genet; 1994 Dec 15; 54(4):354-60. PubMed ID: 7726208
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  • 10. Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.
    Rujirabanjerd S, Tongsippunyoo K, Sripo T, Limprasert P.
    Eur J Med Genet; 2007 Dec 15; 50(5):346-54. PubMed ID: 17613295
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  • 11. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
    Martínez-Garay I, Tomás M, Oltra S, Ramser J, Moltó MD, Prieto F, Meindl A, Kutsche K, Martínez F.
    Eur J Hum Genet; 2007 Jan 15; 15(1):29-34. PubMed ID: 17033686
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  • 12. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
    Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ.
    Hum Genet; 2002 Jul 15; 111(1):26-30. PubMed ID: 12136232
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  • 13. Genetic analysis of choroideremia families in the Australian population.
    McLaren TL, De Roach JN, Montgomery H, Hoffmann L, Kap C, Lamey TM.
    Clin Exp Ophthalmol; 2015 Nov 15; 43(8):727-34. PubMed ID: 25912515
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  • 17. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
    Guo H, Li J, Gao F, Li J, Wu X, Liu Q.
    BMC Ophthalmol; 2015 Jul 28; 15():85. PubMed ID: 26216097
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  • 20. Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome.
    Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L.
    Am J Med Genet; 1996 Jul 12; 64(1):31-4. PubMed ID: 8826445
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