Phillips HA - Search Results

1

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJ, Stephenson JB, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF, Mulley JC. Phillips HA, et al. Am J Hum Genet. 1998 Oct;63(4):1108-16. doi: 10.1086/302047. Am J Hum Genet. 1998. PMID: 9758605 Free PMC article.

2

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

3

Localization of craniosynostosis Adelaide type to 4p16.

Hollway GE, Phillips HA, Adès LC, Haan EA, Mulley JC. Hollway GE, et al. Among authors: phillips ha. Hum Mol Genet. 1995 Apr;4(4):681-3. doi: 10.1093/hmg/4.4.681. Hum Mol Genet. 1995. PMID: 7633418

4

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2.

Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Phillips HA, et al. Nat Genet. 1995 May;10(1):117-8. doi: 10.1038/ng0595-117. Nat Genet. 1995. PMID: 7647781

5

Ten microsatellite polymorphisms mapped to chromosome 16.

Phillips HA, Gerken SC, Mulley JC, White R. Phillips HA, et al. Hum Mol Genet. 1994 Nov;3(11):2078. Hum Mol Genet. 1994. PMID: 7874133 No abstract available.

6

Refined genetic localization for central core disease.

Mulley JC, Kozman HM, Phillips HA, Gedeon AK, McCure JA, Iles DE, Gregg RG, Hogan K, Couch FJ, MacLennan DH, et al. Mulley JC, et al. Among authors: phillips ha. Am J Hum Genet. 1993 Feb;52(2):398-405. Am J Hum Genet. 1993. PMID: 8430700 Free PMC article.

7

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.

8

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

9

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. Phillips HA, et al. Ann Neurol. 2000 Aug;48(2):264-7. Ann Neurol. 2000. PMID: 10939581

10

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.

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