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Journal Abstract Search

195 related items for PubMed ID: 15857419

  • 1. Refinement of the chromosome 16 locus for benign familial infantile convulsions.
    Callenbach PM, van den Boogerd EH, de Coo RF, ten Houten R, Oosterwijk JC, Hageman G, Frants RR, Brouwer OF, van den Maagdenberg AM.
    Clin Genet; 2005 Jun; 67(6):517-25. PubMed ID: 15857419
    [Abstract] [Full Text] [Related]

  • 2. Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
    Weber YG, Berger A, Bebek N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbach A, Hikel C, Kurlemann G, Neubauer B, Osawa M, Püst B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurkat-Rott K, Lerche H.
    Epilepsia; 2004 Jun; 45(6):601-9. PubMed ID: 15144424
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  • 3. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
    Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersósimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P.
    Am J Hum Genet; 2001 Mar; 68(3):788-94. PubMed ID: 11179027
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  • 4. [Linkage analysis and gene mapping of one Chinese family with benign familial infantile convulsions].
    Zhou XH, Ma AQ, Liu XH, Huang C, Zhang YM, Shi RM.
    Zhongguo Dang Dai Er Ke Za Zhi; 2010 Feb; 12(2):89-92. PubMed ID: 20199718
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  • 5. [Preliminary linkage analysis of a Chinese family with benign familial infantile convulsion].
    Xiong G, Deng FY, Xiao B, Yang XS, Ning JC, Wu ZG, Wang K, Deng HW.
    Zhonghua Er Ke Za Zhi; 2004 Jun; 42(6):424-8. PubMed ID: 15265426
    [Abstract] [Full Text] [Related]

  • 6. Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.
    Malacarne M, Gennaro E, Madia F, Pozzi S, Vacca D, Barone B, dalla Bernardina B, Bianchi A, Bonanni P, De Marco P, Gambardella A, Giordano L, Lispi ML, Romeo A, Santorum E, Vanadia F, Vecchi M, Veggiotti P, Vigevano F, Viri F, Bricarelli FD, Zara F.
    Am J Hum Genet; 2001 Jun; 68(6):1521-6. PubMed ID: 11326335
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  • 7. Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC).
    Moulard B, Buresi C, Malafosse A.
    Hum Mutat; 2000 Jun; 16(2):139-42. PubMed ID: 10923035
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  • 8. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q.
    Guipponi M, Rivier F, Vigevano F, Beck C, Crespel A, Echenne B, Lucchini P, Sebastianelli R, Baldy-Moulinier M, Malafosse A.
    Hum Mol Genet; 1997 Mar; 6(3):473-7. PubMed ID: 9147652
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  • 10. [A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].
    Zhou XH, Ma AQ, Liu XH, Huang C, Zhang YM, Shi RM.
    Zhonghua Er Ke Za Zhi; 2006 Jul; 44(7):487-91. PubMed ID: 17044971
    [Abstract] [Full Text] [Related]

  • 11. Search for alpha4 and alpha7 nicotinic acetylcholine receptor markers in a pedigree of benign familial infantile convulsions (BFIC).
    Rauschemberger MB, Vecchi C, Barrantes FJ.
    Neurochem Res; 2002 Nov; 27(11):1563-8. PubMed ID: 12512961
    [Abstract] [Full Text] [Related]

  • 12. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
    Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF.
    Genomics; 1997 Apr 01; 41(1):93-9. PubMed ID: 9126487
    [Abstract] [Full Text] [Related]

  • 13. Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.
    Kamatani N, Moritani M, Yamanaka H, Takeuchi F, Hosoya T, Itakura M.
    Arthritis Rheum; 2000 Apr 01; 43(4):925-9. PubMed ID: 10765940
    [Abstract] [Full Text] [Related]

  • 14. Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family.
    Demir E, Prud'homme JF, Topçu M.
    Pediatr Neurol; 2004 May 01; 30(5):349-53. PubMed ID: 15165638
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  • 15. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.
    Rochette J, Roll P, Szepetowski P.
    J Med Genet; 2008 Dec 01; 45(12):773-9. PubMed ID: 19047496
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  • 19. Genetic heterogeneity of familial hemiplegic migraine.
    Ophoff RA, van Eijk R, Sandkuijl LA, Terwindt GM, Grubben CP, Haan J, Lindhout D, Ferrari MD, Frants RR.
    Genomics; 1994 Jul 01; 22(1):21-6. PubMed ID: 7959770
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