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Journal Abstract Search

195 related items for PubMed ID: 15857419

  • 21. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
    Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Díaz-Otero F, Gómez-Garre P, Martín M, Fernández-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M.
    Epilepsia; 2004 Sep; 45(9):1054-60. PubMed ID: 15329069
    [Abstract] [Full Text] [Related]

  • 22. A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.
    Weber YG, Jacob M, Weber G, Lerche H.
    Epilepsia; 2008 Nov; 49(11):1959-64. PubMed ID: 18479394
    [Abstract] [Full Text] [Related]

  • 23. Benign familial infantile seizures: further delineation of the syndrome.
    Caraballo RH, Cersósimo RO, Amartino H, Szepetowski P, Fejerman N.
    J Child Neurol; 2002 Sep; 17(9):696-9. PubMed ID: 12503648
    [Abstract] [Full Text] [Related]

  • 24. Clinical and genetic study on a new Chinese family with benign familial infantile seizures.
    Xiao B, Deng FY, Xiong G, Wang K, Zhang J, Chen XD, Liu YZ, Deng HW.
    Eur J Neurol; 2005 May; 12(5):344-9. PubMed ID: 15804263
    [Abstract] [Full Text] [Related]

  • 25. Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity.
    Ryan SG, Wiznitzer M, Hollman C, Torres MC, Szekeresova M, Schneider S.
    Ann Neurol; 1991 May; 29(5):469-73. PubMed ID: 1859177
    [Abstract] [Full Text] [Related]

  • 26. Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel.
    Ocaka L, Zhao C, Reed JA, Ebenezer ND, Brice G, Morley T, Mehta M, O'Dowd J, Weber JL, Hardcastle AJ, Child AH.
    J Med Genet; 2008 Feb; 45(2):87-92. PubMed ID: 17932119
    [Abstract] [Full Text] [Related]

  • 27. No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.
    Gennaro E, Malacarne M, Carbone I, Riggio MC, Bianchi A, Bonanni P, Boniver C, Dalla Bernardina B, De Marco P, Giordano L, Guerrini R, Santorum E, Sebastianelli R, Vecchi M, Veggiotti P, Vigevano F, Bricarelli FD, Zara F.
    Epilepsia; 1999 Dec; 40(12):1799-803. PubMed ID: 10612347
    [Abstract] [Full Text] [Related]

  • 28. A novel locus for generalized epilepsy with febrile seizures plus in French families.
    Baulac S, Gourfinkel-An I, Couarch P, Depienne C, Kaminska A, Dulac O, Baulac M, LeGuern E, Nabbout R.
    Arch Neurol; 2008 Jul; 65(7):943-51. PubMed ID: 18625863
    [Abstract] [Full Text] [Related]

  • 29. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome.
    Rochette J, Roll P, Fu YH, Lemoing AG, Royer B, Roubertie A, Berquin P, Motte J, Wong SW, Hunter A, Robaglia-Schlupp A, Ptacek LJ, Szepetowski P.
    Epileptic Disord; 2010 Sep; 12(3):199-204. PubMed ID: 20716510
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.
    Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B.
    Neurology; 2007 Jun 12; 68(24):2107-12. PubMed ID: 17377072
    [Abstract] [Full Text] [Related]

  • 32. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
    Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, Hoefnagels WA, Black DF, Sandkuijl LA, Frants RR, Ferrari MD, van den Maagdenberg AM.
    Ann Neurol; 2003 Sep 12; 54(3):360-6. PubMed ID: 12953268
    [Abstract] [Full Text] [Related]

  • 33. PRRT2 mutation causes benign familial infantile convulsions.
    de Vries B, Callenbach PM, Kamphorst JT, Weller CM, Koelewijn SC, ten Houten R, de Coo IF, Brouwer OF, van den Maagdenberg AM.
    Neurology; 2012 Nov 20; 79(21):2154-5. PubMed ID: 23077019
    [Abstract] [Full Text] [Related]

  • 34. Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22.
    Hedera P, Ma S, Blair MA, Taylor KA, Hamati A, Bradford Y, Abou-Khalil B, Haines JL.
    Epilepsia; 2006 Oct 20; 47(10):1622-8. PubMed ID: 17054683
    [Abstract] [Full Text] [Related]

  • 35. Benign familial infantile seizures.
    Vigevano F.
    Brain Dev; 2005 Apr 20; 27(3):172-7. PubMed ID: 15737697
    [Abstract] [Full Text] [Related]

  • 36. Benign familial infantile convulsions: a clinical study of seven Dutch families.
    Callenbach PM, de Coo RF, Vein AA, Arts WF, Oosterwijk J, Hageman G, ten Houten R, Terwindt GM, Lindhout D, Frants RR, Brouwer OF.
    Eur J Paediatr Neurol; 2002 Apr 20; 6(5):269-83. PubMed ID: 12374579
    [Abstract] [Full Text] [Related]

  • 37. Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
    Winkelmann J, Lichtner P, Pütz B, Trenkwalder C, Hauk S, Meitinger T, Strom T, Muller-Myhsok B.
    Mov Disord; 2006 Jan 20; 21(1):28-33. PubMed ID: 16124010
    [Abstract] [Full Text] [Related]

  • 38. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.
    Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, Szepetowski P.
    Hum Genet; 1998 Nov 20; 103(5):608-12. PubMed ID: 9860304
    [Abstract] [Full Text] [Related]

  • 39. Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis.
    Woodroffe A, Krafchak CM, Fuse N, Lichter PR, Moroi SE, Schertzer R, Downs CA, Duren WL, Boehnke M, Richards JE.
    Exp Eye Res; 2006 Jun 20; 82(6):1068-74. PubMed ID: 16298363
    [Abstract] [Full Text] [Related]

  • 40. Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
    Stibůrková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S.
    Eur J Hum Genet; 2003 Feb 20; 11(2):145-54. PubMed ID: 12634862
    [Abstract] [Full Text] [Related]

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