Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Monika, Ołdak"'
Autor:
Luca Vella, Anna Sternjakob, Stefan Lohse, Alina Fingerle, Tanya Sperling, Claudia Wickenhauser, Michael Stöckle, Thomas Vogt, Klaus Roemer, Monika Ołdak, Sigrun Smola
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 14 (2024)
Human papillomavirus type 8 (HPV8), a cutaneous genus beta HPV type, has co-carcinogenic potential at sun-exposed sites in patients suffering from the inherited skin disease epidermodysplasia verruciformis (EV). We had previously shown that Langerhan
Externí odkaz:
https://doaj.org/article/dbbcaac594e04315a2438125f67ca75a
Autor:
Laurence Jonard, Davide Brotto, Miguel A. Moreno-Pelayo, Ignacio del Castillo, Hannie Kremer, Ronald Pennings, Helena Caria, Graça Fialho, An Boudewyns, Guy Van Camp, Monika Ołdak, Dominika Oziębło, Naïma Deggouj, Romolo Daniele De Siati, Paolo Gasparini, Giorgia Girotto, Margriet Verstreken, Silvia Dossena, Sebastian Roesch, Saba Battelino, Katarina Trebušak Podkrajšek, Athanasia Warnecke, Thomas Lenarz, Anke Lesinski-Schiedat, Michel Mondain, Anne-Françoise Roux, Françoise Denoyelle, Natalie Loundon, Margaux Serey Gaut, Patrizia Trevisi, Elisa Rubinato, Alessandro Martini, Sandrine Marlin
Publikováno v:
Audiology Research, Vol 13, Iss 3, Pp 341-346 (2023)
The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma, etc [...]
Externí odkaz:
https://doaj.org/article/1f272fa0e4ba4f1d9885851b72d3604b
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Dominika Oziębło, Marcin L. Leja, Michal Lazniewski, Anna Sarosiak, Grażyna Tacikowska, Krzysztof Kochanek, Dariusz Plewczynski, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Several TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited in an autosomal recessive manner. Only two TBC1D24 pathogenic variants have been linked wi
Externí odkaz:
https://doaj.org/article/d17fac3e3c4a4413a34c33aa3fb78490
Autor:
Dominika Oziębło, Marcin L. Leja, Aldona Jeznach, Magdalena Orzechowska, Tomasz Skirecki, Ewa Więsik-Szewczyk, Mariusz Furmanek, Natalia Bałdyga, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The NLRP3 gene mutations are the cause of autosomal dominant autoinflammatory disorders (NLRP3-AID). Recently, hearing loss (HL) has been found to be the sole or major manifestation of NLRP3-AID. Here, we tested 110 autosomal dominant HL families wit
Externí odkaz:
https://doaj.org/article/060c1f0a74764af0865408e9be4f4718
Publikováno v:
Archives of Medical Science, Vol 20, Iss 3, Pp 962-966 (2020)
Introduction Otosclerosis (OTSC) is one of the most common causes of progressive adult-onset hearing loss in the Caucasian population, with a female preponderance. The etiology of OTSC is complex and there are a number of genetic variants reported to
Externí odkaz:
https://doaj.org/article/648a1f6f595d47b2864d71cfec28f691
Autor:
Dominika Oziębło, Anna Sarosiak, Marcin L. Leja, Birgit S. Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J. Bolz, Peter Nürnberg, Henryk Skarżyński, Monika Ołdak
Publikováno v:
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-7 (2019)
Abstract Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal do
Externí odkaz:
https://doaj.org/article/17da04a1ee254f68b28f3cc9c56e9868
Publikováno v:
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-6 (2019)
Abstract Background Hearing loss (HL) is the most common disability of human senses characterized by a great allelic heterogeneity. GJB2 and TMPRSS3 are two well-known HL genes typically underlying its monogenic form. Recently, TMPRSS3/GJB2 digenic i
Externí odkaz:
https://doaj.org/article/fa61e26840694d5da1c60914aa8694e9
Publikováno v:
Nowa Audiofonologia. 12:16-43
Niedosłuch dziedziczony w sposób autosomalny dominujący (ADHL) jest drugim co do częstości typem HL dziedzicznego. Zwykle rozwija się postlingwalnie i ma charakter postępujący. Rodowód rodzin z ADHL charakteryzuje się występowaniem choroby
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::860e7682dda22e6ca7842af3c918cef5
https://doi.org/10.17431/na/156389
https://doi.org/10.17431/na/156389
Autor:
Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Abstract Background Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment. TRIOBP in the inner ear is respo
Externí odkaz:
https://doaj.org/article/d812568f98c04f5dabe80a72c10d3747