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Results: 1-9 |
Results: 9
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21
Authors: Ismailov, SM Fedotov, VP Dadali, EL Polyakov, AV Van Broeckhoven, C Ivanov, VI De Jonghe, P Timmerman, V Evgrafov, OV
Citation: Sm. Ismailov et al., A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21, EUR J HUM G, 9(8), 2001, pp. 646-650
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32(GJB1) in Russian Charcot-Marie-Tooth neuropathy patients (vol 15, pg 340,2000)
Authors: Mersiyanova, IV Ismailov, SM Polyakov, AV Dadali, EL Fedotov, VP Nelis, E Lofgren, A Timmerman, V Van Broeckhoven, C Evgrafov, OV
Citation: Iv. Mersiyanova et al., Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32(GJB1) in Russian Charcot-Marie-Tooth neuropathy patients (vol 15, pg 340,2000), HUM MUTAT, 16(2), 2000, pp. 175-175
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32(GJB1) in Russian Charcot-Marie-Tooth neuropathy patients
Authors: Mersiyanova, IV Ismailov, SM Polyakov, AV Dadali, EL Fedotov, VP Nelis, E Lofgren, A Timmerman, V Van Broeckhoven, C Evgrafov, OV
Citation: Iv. Mersiyanova et al., Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32(GJB1) in Russian Charcot-Marie-Tooth neuropathy patients, HUM MUTAT, 15(4), 2000, pp. 340-347
Polymorphism of the DYS19 and DYS393 in the RBF5 locus of the Y chromosomemicrosatellite loci and the frequency of T-C transition in populations of the Volga-Ural region
Authors: Viktorova, TV Bermisheva, MA Shagina, IV Evgrafov, OV Khusnutdinova, EK
Citation: Tv. Viktorova et al., Polymorphism of the DYS19 and DYS393 in the RBF5 locus of the Y chromosomemicrosatellite loci and the frequency of T-C transition in populations of the Volga-Ural region, RUSS J GEN, 36(8), 2000, pp. 958-964
A study of mutations and haplotypes for polymorphic markers in Wilson-Konovalov disease patients from Bashkortostan
Authors: Karunas, AS Mersiyanova, IV Polyakov, AV Evgrafov, OV Khusnutdinova, EK
Citation: As. Karunas et al., A study of mutations and haplotypes for polymorphic markers in Wilson-Konovalov disease patients from Bashkortostan, RUSS J GEN, 36(7), 2000, pp. 802-808
A new variant of Charcot-Marie-Tooth disease type 2 is probably the resultof a mutation in the neurofilament-light gene
Authors: Mersiyanova, IV Perepelov, AV Polyakov, AV Sitnikov, VF Dadali, EL Oparin, RB Petrin, AN Evgrafov, OV
Citation: Iv. Mersiyanova et al., A new variant of Charcot-Marie-Tooth disease type 2 is probably the resultof a mutation in the neurofilament-light gene, AM J HU GEN, 67(1), 2000, pp. 37-46
Localization of the gene responsible for familial benign polycythemia to chromosome 11q23
Authors: Vasserman, NN Karzakova, LM Tverskaya, SM Saperov, VN Muchukova, OM Pavlova, GP Efimova, NK Vankina, NN Evgrafov, OV
Citation: Nn. Vasserman et al., Localization of the gene responsible for familial benign polycythemia to chromosome 11q23, HUMAN HERED, 49(3), 1999, pp. 129-132
A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia
Authors: Fofanova, OV Takamura, N Kinoshita, E Meerson, EM Iljina, VK Nechvolodova, OL Evgrafov, OV Peterkova, VA Yamashita, S
Citation: Ov. Fofanova et al., A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia, ENDOCR J, 45(6), 1998, pp. 791-795
Two more mutations in X-linked agammaglobulinemia (Bruton's disease).
Authors: Reznik, IB Kondratenko, IV Kovalev, GI Bologov, AA Gomes, LA Vasserman, NN Tverskaya, SM Evgrafov, OV
Citation: Ib. Reznik et al., Two more mutations in X-linked agammaglobulinemia (Bruton's disease)., GEMATOL TR, 43(6), 1998, pp. 34-37
Risultati: 1-9 |