Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman by Borgulová, I., Mazanec, R., Sakmaryová, I., Havlová, M., Šafka Brožková, D., Seeman, P.

Get full text

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene by Brožková, D, Mazanec, R, Haberlová, J, Sakmaryová, I, Seeman, P

Get full text

GDAP1 mutations in Czech families with early-onset CMT by Baránková, L, Vyhnálková, E, Züchner, S, Mazanec, R, Sakmaryová, I, Vondráček, P, Merlini, L, Bojar, M, Nelis, E, De Jonghe, P, Seeman, P

Get full text

High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2 by Seeman, P, Sakmaryová, I

Get full text

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness by Seeman, P, Malíková, M, Rašková, D, Bendová, O, Groh, D, Kubálková, M, Sakmaryová, I, Seemanová, E, Kabelka, Z

Get full text

Short Report: High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2 by Seeman, P, Sakmaryová, I

Get full text

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies by Lassuthova, Petra, Sišková, Dana, Haberlová, Jana, Sakmaryová, Iva, Filouš, Aleš, Seeman, Pavel

Get full text

Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease by Laššuthová, Petra, Žaliová, Markéta, Inoue, Ken, Haberlová, Jana, Sixtová, Klára, Sakmaryová, Iva, Paděrová, Kateřina, Mazanec, Radim, Zámečník, Josef, Šišková, Dana, Garbern, Jim, Seeman, Pavel

Get full text

Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy by Brožková, Dana, Mazanec, Radim, Rychlý, Zdeněk, Haberlová, Jana, Böhm, Jiří, Staněk, Jan, Plevová, Pavlína, Lisoňová, Jana, Sabová, Jana, Sakmaryová, Iva, Seeman, Pavel

Get full text

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East Europe by DÖRK, T, MACEK, M. JR, ZEMKOVA, D, GINTER, E, PETROVA, N. V, IVASCHENKO, T, BARANOV, V, WITT, M, POGORZELSKI, A, BAL, J, ZEKANOWSKY, C, WAGNER, K, MEKUS, F, STUHRMANN, M, BAUER, I, SEYDEWITZ, H. H, NEUMANN, T, JAKUBICZKA, S, KRAUS, C, THAMM, B, NECHIPORENKO, M, LIVSHITS, L, MOSSE, N, TÜMMLER, B, TSUKERMAN, G, KADASI, L, RAVNIK-GLAVAC, M, GLAVAC, D, KOMEL, R, VOUK, K, KUCINSKAS, V, KRUMINA, A, TEDER, M, KOCHEVA, S, TZOUNTZOURIS, J, EFREMOV, G. D, ONAY, T, KIRDAR, B, MALONE, G, SCHWARZ, M, ZHAOQING ZHOU, FRIEDMAN, K. J, CARLES, S, CLAUSTRES, M, BOZON, D, CASALS, T, VERLINGUE, C, FEREC, C, TZETIS, M, KANAVAKIS, E, CUPPENS, H, BOMBIERI, C, PIGNATTI, P. F, SANGIUOLO, F, JORDANOVA, A, KUSIC, J, KREBSOVA, A, KOUDOVA, M, SAKMARYOVA, I. SR, VAVROVA, V

Get full text