Zobrazeno 1 - 10
of 38
pro vyhledávání: '"T. Piskackova"'
Akademický článek
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Autor:
Felix Votava, Vladimír Gregor, Dana Zemkova, Věra Vávrová, P. Kracmar, Lucie Gonsorcikova, Jan Lebl, T. Piskackova, Pavel Dřevínek, Milan Macek, Veronika Skalická, J. Camajova, A. Holubová, Miroslava Balascakova
Publikováno v:
Journal of Cystic Fibrosis. 8:224-227
The objective need for cystic fibrosis (CF) newborn screening (NBS) in the Czech Republic has recently been substantiated by a significant delay of its symptomatic diagnosis. This trend most likely resulted from the process of decentralisation of hea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::602cb705d207ec83446dacf25d65c770
https://doi.org/10.1016/j.jcf.2009.01.002
https://doi.org/10.1016/j.jcf.2009.01.002
Autor:
Regina Fölster-Holst, Andreas Ruether, Norbert Hubner, Elke Rodriguez, Milan Macek, Ulrich Wahn, Stefan Schreiber, T. Piskackova, Florian Schulz, Michael Kurek, Anja Bauerfeind, Andrzej Ciechanowicz, Jorge Esparza-Gordillo, Giannino Patone, Stephan Weidinger, Thomas Illig, Simon Heath, Klaus Rohde, Rainer Vogler, Andre Franke, Franz Rüschendorf, Hansjörg Baurecht, Young-Ae Lee, Tamara Kerscher, Natalija Novak, Ingo Marenholz, Min Ae Lee-Kirsch
Publikováno v:
Nature Genetics. 41:596-601
We conducted a genome-wide association study in 939 individuals with atopic dermatitis and 975 controls as well as 270 complete nuclear families with two affected siblings. SNPs consistently associated with atopic dermatitis in both discovery sets we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26dd3a53622ed6794f4320c83081a604
https://doi.org/10.1038/ng.347
https://doi.org/10.1038/ng.347
Autor:
Bianca Maria Ciminelli, A. Holubová, T. Piskackova, Fiorenza Pompei, Angela Begnini, Cristina Bombieri, Cinzia Ciccacci, M. Gabaldo, Carlo Castellani, P. Zorzi, A. Bonizzato, Pier Franco Pignatti, Milan Macek, Guido Modiano
Publikováno v:
Journal of Cystic Fibrosis. 6:15-22
Background: On the basis of previous findings on random individuals, we hypothesized a preferential association of CF causing mutations with the M allele of the M470V polymorphic site of the CFTR gene. Methods: We have determined the M/V-CF mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::182eefd3ff3215a71b6dd5faf0959cee
https://doi.org/10.1016/j.jcf.2006.04.003
https://doi.org/10.1016/j.jcf.2006.04.003
Autor:
Renata Gaillyová, A. Holubová, Hana Vinohradská, T. Piskackova, Veronika Krulisova, Iveta Valášková, Felix Votava, Milan Macek, Miroslava Balascakova, Veronika Skalická
Publikováno v:
Journal of Cystic Fibrosis. 13
Objectives: This study reviews parental views on how they were informed of the probable CF diagnosis, following neonatal screening, and explores which method parent’s found most acceptable. Methods: Retrospective questionnaires were used to find pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f2ffeaf6ae9182a63219f2fd54f3f29
Autor:
Dana Zemkova, Veronika Krulisova, Blanka Chovancová, Lenka Dvořáková, T. Piskackova, A. Holubová, Felix Votava, A. Stambergova, Milan Macek, Petra Křenková, P. Kracmar, Miroslava Balascakova, Jana Paděrová, Veronika Skalická, Věra Vávrová
Publikováno v:
European journal of pediatrics. 171(8)
Cystic fibrosis (CF) is a life-threatening disease for which early diagnosis following newborn screening (NBS) improves the prognosis. We performed a prospective assessment of the immunoreactive trypsinogen (IRT)/DNA/IRT protocol currently in use nat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c87cb62401d33ed32b415e8adfb7f5eb
https://pubmed.ncbi.nlm.nih.gov/22581207
https://pubmed.ncbi.nlm.nih.gov/22581207
Autor:
P. Kracmar, Miroslava Balascakova, Felix Votava, Dana Zemkova, P. Krenkova, Veronika Krulisova, A. Holubová, L. Dvorakova, Milan Macek, A. Stambergova, T. Piskackova, V. Vavrova, Veronika Skalická
Publikováno v:
Journal of Cystic Fibrosis. 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f8adc76f99bfa12c2f5ea68b5b2c328
Autor:
Simon Heath, Arne Pfeufer, Pio D'Adamo, Fritz Zimprich, Tadeusz Dębniak, Andres Metspalu, Noemi Polgar, Tõnu Esko, Karola Rehnström, Stylianos E. Antonarakis, Xavier Estivill, Raquel Rabionet, Samuel Deutsch, Andrey Khrunin, Leena Peltonen, Jan Lubinski, H-Erich Wichmann, Thomas Meitinger, Mark Lathrop, Milan Macek, Svetlana A. Limborska, Pilar Galan, Christelle Borel, Jūratė Kasnauskienė, Maido Remm, Sena Karachanak, T. Piskackova, Homa Attar, Béla Melegh, Daniela Toniolo, Janis Klovins, Antonio Julià, Vaidutis Kučinskas, Maryline Gagnebin, Mari Nelis, Eveliina Jakkula, Sara Marsal, Reedik Mägi, Ivan Balascak, Stefan Schreiber, Alexander Zimprich, Draga Toncheva, Liene Nikitina-Zake, Paolo Gasparini, Michael Krawczak
Publikováno v:
PLoS ONE, Vol 5, Iss 3 (2010)
PLoS ONE
Europe PubMed Central
PLoS ONE
Europe PubMed Central
The third author, Reedik Magi, should be noted as affiliated with: Estonian Biocentre, Tartu, Estonia, and the Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60e2d4a8e963c0ab3bb8a249dd410cf1
http://europepmc.org/articles/PMC2847460
http://europepmc.org/articles/PMC2847460
Autor:
Fan Lin, Sonia Margarit, T. Piskackova, Weili Li, Lap-Chee Tsui, Marci K. Sontag, Peter Durie, Yongqian Wang, Peter D. Paré, Garry R. Cutting, Lisa J. Strug, Harm A.W.M. Tiddens, Scott M. Blackman, Andrew J. Sandford, Dorota Sands, Ruslan Dorfman, Lei Sun, Karen McKay, Gabriela M. Repetto, Kamila Czerska, Frank J. Accurso, Hana Kayserova, Julian Zielenski, Mary Corey, Milan Macek
Publikováno v:
Human Genetics, 126, 763-778. Springer-Verlag
Cystic fibrosis (CF) is a monogenic disease due to mutations in the CFTR gene. Yet, variability in CF disease presentation is presumed to be affected by modifier genes, such as those recently demonstrated for the pulmonary aspect. Here, we conduct a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a68b82fa82eaf74d732276b9d5a228
http://hdl.handle.net/10722/143355
http://hdl.handle.net/10722/143355
Autor:
Thomas Meitinger, T. Piskackova, Leena Peltonen, Draga Toncheva, Christelle Borel, Sena Karachanak, Liene Nikitina-Zake, Xavier Estivill, Béla Melegh, Daniela Toniolo, Janis Klovins, Mari Nelis, Andrey Khrunin, H-Erich Wichmann, Raquel Rabionet, Michael Krawczak, Ivan Balascak, Stefan Schreiber, Tõnu Esko, Jūratė Kasnauskienė, Alexander Zimprich, Paolo Gasparini, Pilar Galan, Fritz Zimprich, Karola Rehnström, Simon Heath, Pio D'Adamo, Antonio Julià, Sara Marsal, Arne Pfeufer, Stylianos E. Antonarakis, Eveliina Jakkula, Svetlana A. Limborska, Noémi Polgár, Reedik Mägi, Samuel Deutsch, Tadeusz Dębniak, Homa Attar, Jan Lubinski, Vaidutis Kučinskas, Maryline Gagnebin, Mark Lathrop, Milan Macek, Andres Metspalu, Maido Remm
Publikováno v:
PLOS ONE, Vol. 4, No 5 (2009) P. e5472
PLoS ONE, Vol 4, Iss 5, p e5472 (2009)
PLoS ONE
PloS one
PLoS ONE; Vol 4
PLoS ONE, Vol 4, Iss 5, p e5472 (2009)
PLoS ONE
PloS one
PLoS ONE; Vol 4
Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with the Illumina Infinium platform. In cohorts where the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5589440a1ebd026aa6ae87c29bbd6f9d
https://archive-ouverte.unige.ch/unige:9227
https://archive-ouverte.unige.ch/unige:9227