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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. Steinlein OK, et al. Among authors: phillips ha. Nat Genet. 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201. Nat Genet. 1995. PMID: 7550350
Gene localization for an autosomal dominant familial periodic fever to 12p13.
Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M. Mulley J, et al. Among authors: phillips h. Am J Hum Genet. 1998 Apr;62(4):884-9. doi: 10.1086/301793. Am J Hum Genet. 1998. PMID: 9529351 Free PMC article.
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.
Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, et al. Laing NG, et al. Among authors: phillips h. Am J Hum Genet. 1992 Mar;50(3):576-83. Am J Hum Genet. 1992. PMID: 1347195 Free PMC article.
A cytokine receptor gene cluster in the X-Y pseudoautosomal region?
Kremer E, Baker E, D'Andrea RJ, Slim R, Phillips H, Moretti PA, Lopez AF, Petit C, Vadas MA, Sutherland GR, et al. Kremer E, et al. Among authors: phillips h. Blood. 1993 Jul 1;82(1):22-8. Blood. 1993. PMID: 8100720
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.
McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D, Stephenson JB, Tolmie J, Scheffer IE, Berkovic SF, Zuberi SM. McLellan A, et al. Among authors: phillips ha. Epilepsia. 2003 Apr;44(4):613-7. doi: 10.1046/j.1528-1157.2003.20102.x. Epilepsia. 2003. PMID: 12681012
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.
Hoda JC, Gu W, Friedli M, Phillips HA, Bertrand S, Antonarakis SE, Goudie D, Roberts R, Scheffer IE, Marini C, Patel J, Berkovic SF, Mulley JC, Steinlein OK, Bertrand D. Hoda JC, et al. Among authors: phillips ha. Mol Pharmacol. 2008 Aug;74(2):379-91. doi: 10.1124/mol.107.044545. Epub 2008 May 2. Mol Pharmacol. 2008. PMID: 18456869
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.
Derry CP, Heron SE, Phillips F, Howell S, MacMahon J, Phillips HA, Duncan JS, Mulley JC, Berkovic SF, Scheffer IE. Derry CP, et al. Among authors: phillips ha. Epilepsia. 2008 Dec;49(12):2125-9. doi: 10.1111/j.1528-1167.2008.01652.x. Epub 2008 May 9. Epilepsia. 2008. PMID: 18479385 Free article.
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC. Phillips HA, et al. Am J Hum Genet. 2001 Jan;68(1):225-31. doi: 10.1086/316946. Epub 2000 Dec 5. Am J Hum Genet. 2001. PMID: 11104662 Free PMC article.
SSCP variants within the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor gene.
Phillips HA, Mulley JC. Phillips HA, et al. Clin Genet. 1997 Feb;51(2):135-6. doi: 10.1111/j.1399-0004.1997.tb02439.x. Clin Genet. 1997. PMID: 9112007 No abstract available.
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Wallace RH, et al. Among authors: phillips ha. Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252. Nat Genet. 1998. PMID: 9697698
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