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Results: 1-9 |
Results: 9
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
Authors: Matsumoto, N Leventer, RJ Kuc, JA Mewborn, SK Dudlicek, LL Ramocki, MB Pilz, DT Mills, PL Das, S Ross, ME Ledbetter, DH Dobyns, WB
Citation: N. Matsumoto et al., Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia, EUR J HUM G, 9(1), 2001, pp. 5-12
Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis
Authors: Leventer, RJ Pilz, DT Matsumoto, N Ledbetter, DH Dobyns, WB
Citation: Rj. Leventer et al., Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis, MOL MED TOD, 6(7), 2000, pp. 277-284
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
Authors: Cardoso, C Leventer, RJ Matsumoto, N Kuc, JA Ramocki, MB Mewborn, SK Dudlicek, LL May, LF Mills, PL Das, S Pilz, DT Dobyns, WB Ledbetter, DH
Citation: C. Cardoso et al., The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene, HUM MOL GEN, 9(20), 2000, pp. 3019-3028
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
Authors: Pilz, DT Kuc, J Matsumoto, N Bodurtha, J Bernadi, B Tassinari, CA Dobyns, WB Ledbetter, DH
Citation: Dt. Pilz et al., Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1, HUM MOL GEN, 8(9), 1999, pp. 1757-1760
Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS)
Authors: Matsumoto, N Pilz, DT Ledbetter, DH
Citation: N. Matsumoto et al., Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS), GENOMICS, 56(2), 1999, pp. 179-183
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
Authors: Fogli, A Guerrini, R Moro, F Fernandez-Alvarez, E Livet, MO Renieri, A Cioni, M Pilz, DT Veggiotti, P Rossi, E Ballabio, A Carrozzo, R
Citation: A. Fogli et al., Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly., ANN NEUROL, 45(2), 1999, pp. 154-161
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
Authors: Dobyns, WB Truwit, CL Ross, ME Matsumoto, N Pilz, DT Ledbetter, DH Gleeson, JG Walsh, CA Barkovich, AJ
Citation: Wb. Dobyns et al., Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly, NEUROLOGY, 53(2), 1999, pp. 270-277
Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence
Authors: Pilz, DT Macha, ME Precht, KS Smith, ACM Dobyns, WB Ledbetter, DH
Citation: Dt. Pilz et al., Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence, GENET MED, 1(1), 1998, pp. 29-33
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
Authors: Pilz, DT Matsumoto, N Minnerath, S Mills, P Gleeson, JG Allen, KM Walsh, CA Barkovich, AJ Dobyns, WB Ledbetter, DH Ross, ME
Citation: Dt. Pilz et al., LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation, HUM MOL GEN, 7(13), 1998, pp. 2029-2037
Risultati: 1-9 |