Scheffer I - Search Results

1

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Ross ME, et al. Among authors: scheffer i. Hum Mol Genet. 1997 Apr;6(4):555-62. doi: 10.1093/hmg/6.4.555. Hum Mol Genet. 1997. PMID: 9097958

2

Pelizaeus-Merzbacher disease: classical or connatal?

Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM. Scheffer IE, et al. Neuropediatrics. 1991 May;22(2):71-8. doi: 10.1055/s-2008-1071420. Neuropediatrics. 1991. PMID: 1857497

3

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: scheffer ie. Nat Genet. 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201. Nat Genet. 1995. PMID: 7550350

4

Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation.

Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM, Berkovic SF. Scheffer IE, et al. Ann Neurol. 1995 Oct;38(4):633-42. doi: 10.1002/ana.410380412. Ann Neurol. 1995. PMID: 7574460

5

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. Among authors: scheffer ie. Nat Genet. 1995 May;10(1):117-8. doi: 10.1038/ng0595-117. Nat Genet. 1995. PMID: 7647781

6

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder.

Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann E, Andermann F, Desbiens R, Keene D, Cendes F, et al. Scheffer IE, et al. Brain. 1995 Feb;118 ( Pt 1):61-73. doi: 10.1093/brain/118.1.61. Brain. 1995. PMID: 7895015

7

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.

Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, Andermann E, Desbiens R, Cendes F, Manson JI, et al. Scheffer IE, et al. Lancet. 1994 Feb 26;343(8896):515-7. doi: 10.1016/s0140-6736(94)91463-x. Lancet. 1994. PMID: 7906762 Review.

8

Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.

Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Berkovic SF, et al. Among authors: scheffer ie. Arch Neurol. 1994 Nov;51(11):1125-8. doi: 10.1001/archneur.1994.00540230063014. Arch Neurol. 1994. PMID: 7980108

9

Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.

Ekşioğlu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic SF, Duyk GM, Parisi J, Huttenlocher PR, Walsh CA. Ekşioğlu YZ, et al. Among authors: scheffer ie. Neuron. 1996 Jan;16(1):77-87. doi: 10.1016/s0896-6273(00)80025-2. Neuron. 1996. PMID: 8562093 Free article.

10

Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus.

Lopes-Cendes I, Phillips HA, Scheffer IE, Mulley JC, Desbiens R, Andermann E, Cendes F, Verret S, Andermann F, Berkovic SF, et al. Lopes-Cendes I, et al. Among authors: scheffer ie. Epilepsy Res. 1995 Nov;22(3):227-33. doi: 10.1016/0920-1211(95)00049-6. Epilepsy Res. 1995. PMID: 8991790

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