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PUBMED FOR HANDHELDS

Journal Abstract Search

376 related items for PubMed ID: 16311270

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  • 5. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
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  • 7. Autosomal dominant infantile gastroesophageal reflux disease: exclusion of a 13q14 locus in five well characterized families.
    Orenstein SR, Shalaby TM, Finch R, Pfuetzer RH, DeVandry S, Chensny LJ, Bannada MM, Whitcomb DC.
    Am J Gastroenterol; 2002 Nov; 97(11):2725-32. PubMed ID: 12425539
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  • 10. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
    Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.
    Nat Genet; 2001 Mar; 27(3):309-12. PubMed ID: 11242114
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  • 11. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
    Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A.
    Ann Neurol; 2004 Jan; 55(1):97-104. PubMed ID: 14705117
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  • 12. Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux.
    Barros P, Morais H, Santos C, Roriz J, Coutinho P.
    Arq Neuropsiquiatr; 2014 Apr; 72(4):269-72. PubMed ID: 24760089
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  • 13. Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
    Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.
    Hum Mutat; 2001 Oct; 18(4):308-18. PubMed ID: 11668614
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  • 14. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.
    Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ.
    N Engl J Med; 1994 Aug 18; 331(7):425-31. PubMed ID: 8035838
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  • 15. Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24.
    McEntagart ME, Reid SL, Irrthum A, Douglas JB, Eyre KE, Donaghy MJ, Anderson NE, Rahman N.
    Ann Neurol; 2005 Feb 18; 57(2):293-7. PubMed ID: 15668982
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  • 18. Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy.
    Passamonti L, Muglia M, Magariello A, Bellesi M, Conforti FL, Mazzei R, Patitucci A, Gabriele AL, Sprovieri T, Peluso G, Caracciolo M, Medici E, Logullo F, Provinciali L, Quattrone A.
    Neuromuscul Disord; 2004 Nov 18; 14(11):705-10. PubMed ID: 15482954
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  • 19. Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
    Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH, Willems PJ.
    Genomics; 1997 Apr 01; 41(1):70-4. PubMed ID: 9126484
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