Projects funded by the NCN
Molecular basis of isolated hearing loss in group of Polish patients - using of Next Generation Sequencing to identify genes and mutations responsible for the hereditary form of disease.
2014/13/N/NZ5/03671
Keywords:
nonsyndromic hearing loss molecular basis of hearing loss Next Generation Sequencing
Descriptors:
- NZ5_3: Pathogenesis of human diseases
Panel:
NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)
Host institution :
Instytut Matki i Dziecka
woj. mazowieckie
Principal investigator (from the host institution):
Number of co-investigators in the project: 3
Call: PRELUDIUM 7 - announced on 2014-03-17
Amount awarded: 149 499 PLN
Project start date (Y-m-d): 2015-01-27
Project end date (Y-m-d): 2018-01-26
Project duration:: 36 months (the same as in the proposal)
Project status: Project settled
Information in the final report
- Publication in academic press/journals (2)
- Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single familyAuthors:Katarzyna Niepokój, Agnieszka M. Rygiel, Piotr Jurczak, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal, Katarzyna Wertheim-TysarowskaAcademic press:Journal of Applied Genetics (rok: 2017, ), Wydawca: SpringerStatus:PublishedDOI:10.1007/s13353-017-0416-3 - link to the publication
- Genetyczne podłoże zespołu Ushera w kontekście patologii molekularnej narządu słuchu i wzrokuAuthors:Aleksandra Kujko, Katarzyna Wertheim-Tysarowska, Ewa Obersztyn, Hanna Siedlecka, Ewa Nowakowska-Szyrwińska, Katarzyna NiepokójAcademic press:Pediatria Polska (rok: 2016, tom: Tom91 Zeszyt5, strony: Strony: 458-465), Wydawca: ElsevierStatus:PublishedDOI:10.1016/j.pepo.2016.04.011 - link to the publication