Strømme P - Search Results

1

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: stromme p. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.

2

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?

Strømme P, Stokke O, Jellum E, Skjeldal OH, Baumgartner R. Strømme P, et al. Clin Genet. 1995 Jul;48(1):1-5. doi: 10.1111/j.1399-0004.1995.tb04045.x. Clin Genet. 1995. PMID: 7586637

3

Unilateral cleft lip in a boy with Angelman syndrome.

Rösby O, Strömme P, Sandsmark M, Ramstad K, Ormerod E, Birger van der Hagen C, Kubota T, Ledbetter DH, Orstavik KH. Rösby O, et al. Among authors: stromme p. J Craniofac Genet Dev Biol. 1996 Apr-Jun;16(2):122-5. J Craniofac Genet Dev Biol. 1996. PMID: 8773903

4

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

Orstavik KH, Strømme P, Ek J, Torvik A, Skjeldal OH. Orstavik KH, et al. Among authors: stromme p. J Med Genet. 1997 Oct;34(10):849-51. doi: 10.1136/jmg.34.10.849. J Med Genet. 1997. PMID: 9350820 Free PMC article.

5

X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11.

Strømme P, Sundet K, Mørk C, Cassiman JJ, Fryns JP, Claes S. Strømme P, et al. J Med Genet. 1999 May;36(5):374-8. J Med Genet. 1999. PMID: 10353782 Free PMC article.

6

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Strømme P, et al. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889467

7

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.

Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J. Strømme P, et al. Brain Dev. 2002 Aug;24(5):266-8. doi: 10.1016/s0387-7604(02)00079-7. Brain Dev. 2002. PMID: 12142061

8

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX.

Strømme P, Bakke SJ, Dahl A, Gécz J. Strømme P, et al. J Neurol Neurosurg Psychiatry. 2003 Apr;74(4):536-8. doi: 10.1136/jnnp.74.4.536. J Neurol Neurosurg Psychiatry. 2003. PMID: 12640086 Free PMC article.

9

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG.

Matlary A, Prescott T, Tvedt B, Lindberg K, Server A, Aicardi J, Strømme P. Matlary A, et al. Among authors: stromme p. Clin Dysmorphol. 2004 Oct;13(4):257-260. Clin Dysmorphol. 2004. PMID: 15365465

10

Microphthalmia and brain atrophy: a novel neurodegenerative disease.

Kanavin ØJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap MS, Strømme P. Kanavin ØJ, et al. Among authors: stromme p. Ann Neurol. 2006 Apr;59(4):719-23. doi: 10.1002/ana.20827. Ann Neurol. 2006. PMID: 16566018

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