Zespół badawczy Rafała Płoskiego
Wybrane publikacje
Publikacja | Impact Factor |
---|---|
Ługowska A, Ponińska J, Krajewski P, Broda G, Płoski R. Population carrier rates of pathogenic ARSA gene mutations: Is metachromatic leukodystrophy underdiagnosed? PLoS One 2011; 6: e20218. |
4,4 |
Sobczyk-Kopcioł A, Broda G, Wojnar M, Kurjata P, Jakubczyk A, Klimkiewicz A, Płoski R. Inverse association of the obesity predisposing FTO rs9939609 genotype with alcohol consumption and risk for alcohol dependence. Addiction 2011; 106: 739‒748. |
4,3 |
Ponińska J, Samoliński B, Tomaszewska A, Raciborski F, Samel-Kowalik P, Walkiewicz A, Lipiec A, Piekarska B, Komorowski J, Krzych-Falta E, Namysłowski A, Borowicz J, Kostrzewa G, Majewski S, Płoski R. Filaggrin gene defects are independent risk factors for atopic asthma in a Polish population: A study in ECAP cohort. PLoS One 2011; 18: e16933. |
4,4 |
Pollak A, Mueller-Malesińska M, Skórka A, Kostrzewa G, Ołdak M, Korniszewski L, Skarżyński H, Płoski R. GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations. J Med Genet 2008; 45: 607‒608. |
5,7 |
Lao O, Lu TT, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Hoimlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Płoski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Ruther A, Schreiber S, Becker C, Nurnberg P, Nelson MR, Krawczak M, Kayser M. Correlation between genetic and geographic structure in Europe. Current Biol 2008; 18: 1241‒1248. |
10,7 |
Pollak A, Skórka A, Mueller-Malesińska M, Kostrzewa G, Kisiel B, Waligóra J, Krajewski P, Ołdak M, Korniszewski L, Skarżyński H, Płoski R. M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance. Am J Med Genet Part A 2007; 143A: 2534‒2543. |
2,4 |
Kayser M, Lao O, Anslinger K, Augustin C, Bargel G, Edelmann J, Elias S, Heinrich M, Henke J, Henke L, Hohoff C, Illing A, Jonkisz A, Kuźniar P, Lebioda A, Lessig R, Lewicki S, Maciejewska A, Monies D, Pawłowski R, Poetsch M, Schmid D, Schmidt U, Schneider P, Stradmann-Bellinghausen B, Szibor R, Wegener R, Woźniak M, Żołędziewska M, Roewer L, Dobosz T, Płoski R. Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis. Hum Genet 2005; 117: 428‒443. |
4,3 |
Snoeckx RL, Huygen PLM, Feldmann D, Marlin S, Denoyelle F, Waligóra J, Mueller-Malesińska M, Pollak A, Płoski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwińska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis DN, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HHM, du Sart D, Jenkins L, Lucas D, Glindzicz MB, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CWRJ, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith, RJH, Van Camp G. GJB2 mutations and degree of hearing loss: A multicenter study. Am J Hum Genet 2005; 77: 945‒957. |
12,6 |
Płoski R, Woźniak M, Pawłowski R, Monies DM, Branicki W, Kupiec T, Kloosterman A, Dobosz T, Bosch E, Nowak M, Lessig R, Jobling MA, Roewer L, Kayser M. Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis. Hum Genet 2002; 10: 592‒600. |
3,4 |
Płoski R, Ek J, Thorsby E, Sollid LM. HLA-DQ(α-1*0501, β-1*0201)-associated susceptibility in celiac disease – a possible gene dosage effect of DQB1*0201. Tissue Antigens 1993; 41: 173‒177. | – |