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Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Crow YJ, et al. Among authors: kalmanchey r. Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827106 Free PMC article.
Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, Wilson C, Jayakar P, Aine MR, Dom L, Lynch B, Kálmánchey R, Pietsch P, Errami A, Scheper GC. van der Knaap MS, et al. Among authors: kalmanchey r. Ann Neurol. 2010 Jun;67(6):834-7. doi: 10.1002/ana.21980. Ann Neurol. 2010. PMID: 20517947
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S, Kato K, Dinopoulos A, Gail C, DeGrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y. Kure S, et al. Among authors: kalmanchey r. Hum Mutat. 2006 Apr;27(4):343-52. doi: 10.1002/humu.20293. Hum Mutat. 2006. PMID: 16450403
Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.
Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WC, Bast T, Kalmanchey R, Barsi P, Schneider JF, Capone Mori A, Boltshauser E. Toelle SP, et al. Among authors: kalmanchey r. Neuropediatrics. 2002 Aug;33(4):209-14. doi: 10.1055/s-2002-34498. Neuropediatrics. 2002. PMID: 12368992 Review.
38 results