Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

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Genetic risk factors in the Kashubian population and their involvement in the pathogenesis of autosomal recessive intellectual disability

2014/15/D/NZ5/03426

Keywords:

cognitive function intellectual disability homozygosity mapping exome sequencing

Descriptors:

  • NZ5_3: Pathogenesis of human diseases
  • NZ5_1: Etiology of human diseases
  • NZ2_1: Molecular genetics

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

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Agnieszka Charzewska 

Number of co-investigators in the project: 5

Call: SONATA 8 - announced on 2014-09-15

Amount awarded: 496 000 PLN

Project start date (Y-m-d): 2015-08-05

Project end date (Y-m-d): 2019-02-04

Project duration:: 42 months (the same as in the proposal)

Project status: Project settled

Equipment purchased [PL]

  1. Zestaw komputerowy z dyskiem twardym o pojemności 2 TB i dyskiem SSD o pojemności 250 GB oraz pamięcią operacyjną 32 GB (5 000 PLN)
  2. Macierz dyskowa o pojemności 16 TB (10 000 PLN)

Information in the final report

  • Publication in academic press/journals (3)
  1. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of thirteen novel patients and expansion of the clinical characteristics
    Authors:
    A. Bayat , A. Knaus, A. Wollenberg Juul, U. Kini, E. Gardella, A. Charzewska, E. Clement, H. Hjalgrim, D. Hoffman-Zacharska, D. Horn, R. Horton, J. A. Hurst, D. Josifova, P. Krawitz, L. Larsen, K. Lascelles, E. Obersztyn, D. Pal, M. Pendziwiat, M. Ryten, J. Vogt, Y. Weber, I. Helbig, R. Møller
    Academic press:
    Genetics in Medicine , Wydawca: Springer Nature
    Status:
    Accepted for publication
    DOI:
    brak - link to the publication
  2. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
    Authors:
    Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium, Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E.
    Academic press:
    Brain (rok: 2017, tom: 140 (11), strony: 2879-2894), Wydawca: Oxford University Press
    Status:
    Published
    DOI:
    10.1093/brain/awx236 - link to the publication
  3. The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders
    Authors:
    A. Charzewska, R. Maiwald, K. Kahrizi, B. Oehl-Jaschkowitz, A. Dufke, J.R. Lemke, H. Enders, H. Najmabadi, A. Tzschach, W. Hachmann, C. Jensen, M. Bienek, J. Poznański, M. Nawara, T. Chilarska, E. Obersztyn, D. Hoffman-Zacharska, M. Gos, J. Bal, V.M. Kalscheuer
    Academic press:
    Clinical Genetics (rok: 2018, tom: 94, strony: 450-456), Wydawca: Wiley Online Library
    Status:
    Published
    DOI:
    10.1111/cge.13412 - link to the publication

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