A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24 von TANG, Bei-Sha, WEI LUO, DAI, He-Ping, YANG, Qi-Dong, XIA, Jia-Hui, EVGRAFOV, Oleg V, KUN XIA, XIAO, Jian-Feng, HONG JIANG, LU SHEN, TANG, Jian-Guang, ZHAO, Guo-Hua, FANG CAI, QIAN PAN

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A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene von Mersiyanova, Irina V., Perepelov, Alexander V., Polyakov, Alexander V., Sitnikov, Vladimir F., Dadali, Elena L., Oparin, Roman B., Petrin, Alexander N., Evgrafov, Oleg V.

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BRD2 (RING3) Is a Probable Major Susceptibility Gene for Common Juvenile Myoclonic Epilepsy von Pal, Deb K., Evgrafov, Oleg V., Tabares, Paula, Zhang, Fengli, Durner, Martina, Greenberg, David A.

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Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis von Zerjal, T, Dashnyam, B, Pandya, A, Kayser, M, Roewer, L, Santos, F R, Schiefenhövel, W, Fretwell, N, Jobling, M A, Harihara, S, Shimizu, K, Semjidmaa, D, Sajantila, A, Salo, P, Crawford, M H, Ginter, E K, Evgrafov, O V, Tyler-Smith, C

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Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract von Polyakov, AV, Shagina, IA, Khlebnikova, OV, Evgrafov, OV

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A Novel IVS2 −2A>T Splicing Mutation in the GH-1 Gene in Familial Isolated Growth Hormone Deficiency Type II in the Spectrum of Other Splicing Mutations in the Russian Population von Fofanova, Olga V., Evgrafov, Oleg V., Polyakov, Alexander V., Poltaraus, Andrey B., Peterkova, Valentina A., Dedov, Ivan I.

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A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21 von Ismailov, S M, Fedotov, V P, Dadali, E L, Polyakov, A V, Van Broeckhoven, C, Ivanov, V I, De Jonghe, P, Timmerman, V, Evgrafov, O V

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Screening for Mutations in the Peripheral Myelin Genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth Neuropathy Patients von Mersiyanova, I V, Ismailov, S M, Polyakov, A V, Dadali, EL, Fedotov, V P, Nelis, E, Loefgren, A, Timmerman, V, Van Broeckhoven, C, Evgrafov, O V

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Bacterial β-galactosidase and human dystrophin genes are expressed in mouse skeletal muscle fibers after ballistic transfection von Zelenin, Alexander V., Kolesnikov, Victor A., Tarasenko, Olga A., Shafei, Ramin A., Zelenina, Inessa A., Mikhailov, Vyacheslav V., Semenova, Maria L., Kovalenko, Dmitry V., Artemyeva, Olga V., Ivaschenko, Tatyana E., Evgrafov, Oleg V., Dickson, George, Baranovand, Vladislav S.

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Prenatal DNA diagnosis on demand - a possible new approach to DNA service provision von Tverskaya, S.M., Dadali, E.L., Evgrafov, O.V.

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High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect von Polyakov, Alexander Vladimirovich, Dzenis, Irina Genrikhovna, Baharev, Vladimir Anatol'Evich, Evgrafov, Oleg Vadimovich

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A Missense Mutation of C1659 in the Fibroblast Growth Factor Receptor 3 Gene in Russian Patients with Hypochondroplasia von FOFANOVA, OLGA V., TAKAMURA, NOBORU, KINOSHITA, EI-ICHI, MEERSON, ELENA M., ILJINA, VALENTINA K., NECHVOLODOVA, OLGA L., EVGRAFOV, OLEG V., PETERKOVA, VALENTINA A., YAMASHITA, SHUNICHI

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Localization of the Gene Responsible for Familial Benign Polycythemia to Chromosome 11q23 von Vasserman, Natalia N., Karzakova, Luisa M., Tverskaya, Svetlana M., Saperov, Vladimir N., Muchukova, Olga M., Pavlova, Galina P., Efimova, Nadejda K., Vankina, Natalia N., Evgrafov, Oleg V.

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Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia von Evgrafov, Oleg Vadimovich, Polyakov, Alexandr Vladimirovich, Dzenis, Irina Genrikhovna, Baharev, Vladimir Anatol'evich

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Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia von Baranov, V. S., Gorbunova, V. N., Malysheva, O. V., Artemyeva, O. V., Kascheeva, T. K., Evgrafov, O. V., Polyakov, A. V., Lebedev, V. M., Kuznetzova, T. V., Shlykova, S. N., Mikhailov, A. V., Vakharlovsky, V. G.

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Prenatal diagnosis of spinal muscular atrophy in Russia von Shagina, I., Dadali, H. L., Sitnikov, V. P., Pugachev, V. V., Malygina, N. A., Evgrafov, O. V.

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PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: Clinical implications and limitations von Osipova, G.R., Karmanov, M.E., Kozlova, S.I., Evgrafov, O.V.

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Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency von Fofanova, Olga V., Takamura, Noboru, Kinoshita, Ei-ichi, Yoshimoto, Masaaki, Tsuji, Yoshiro, Peterkova, Valentina A., Evgrafov, Oleg V., Dedov, Ivan I., Goncharov, Nikolai P., Yamashita, Shunichi

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