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Page 1
Haplotype-based systematic association studies of ATP1A2 in migraine with aura.
Netzer C, Todt U, Heinze A, Freudenberg J, Zumbroich V, Becker T, Goebel I, Ohlraun S, Goebel H, Kubisch C. Netzer C, et al. Among authors: kubisch c. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):257-60. doi: 10.1002/ajmg.b.30283. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16508935
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Among authors: kubisch c. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, Driever W, Kubisch C, Weber RG. Brockschmidt A, et al. Among authors: kubisch c. Hum Mol Genet. 2007 Jun 15;16(12):1488-94. doi: 10.1093/hmg/ddm099. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17478476
Replication study of the insulin receptor gene in migraine with aura.
Netzer C, Freudenberg J, Heinze A, Heinze-Kuhn K, Goebel I, McCarthy LC, Roses AD, Göbel H, Todt U, Kubisch C. Netzer C, et al. Among authors: kubisch c. Genomics. 2008 Jun;91(6):503-7. doi: 10.1016/j.ygeno.2008.03.006. Epub 2008 May 2. Genomics. 2008. PMID: 18455362 Free article.
270 results