Projects funded by the NCN
Molecular basis of hereditary Clubfoot disease
2017/27/N/NZ5/02940
Keywords:
Clubfoot genotype-phenotype correlation genetics
Descriptors:
- NZ5_1:
- NZ2_1:
- NZ2_7:
Panel:
NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)
Host institution :
Uniwersytet Medyczny w Lublinie, II Wydział Lekarski z Oddziałem Anglojęzycznym
woj. lubelskie
Principal investigator (from the host institution):
Ewa Zuzanna Hordyjewska-Kowalczyk
Number of co-investigators in the project: 3
Call: PRELUDIUM 14 - announced on 2017-09-15
Amount awarded: 209 990 PLN
Project start date (Y-m-d): 2018-09-03
Project end date (Y-m-d): 2022-09-02
Project duration:: 36 months (the same as in the proposal)
Project status: Project completed
Project description
Download the project description in a pdf file
Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.
Information in the final report
- Publication in academic press/journals (3)
- Genotype-phenotype correlation in clubfoot (talipes equinovarus)Authors:Ewa Hordyjewska-Kowalczyk, Karol Nowosad , Aleksander Jamsheer, Przemko TylzanowskiAcademic press:Journal of Medical Genetics (rok: 2022, tom: 59, strony: 209-219), Wydawca: BMJ PUBLISHING GROUPStatus:PublishedDOI:10.1136/jmedgenet-2021-108040 - link to the publication
- Mutations in gene regulatory elements linked to human limb malformationsAuthors:Karol Nowosad, Ewa Hordyjewska-Kowalczyk, Przemko TylżanowskiAcademic press:Journal of Medical Genetics (rok: 2019, tom: NA, strony: NA), Wydawca: BMJ JournalsStatus:PublishedDOI:10.1136/jmedgenet-2019-106369 - link to the publication
- Identification and functional verification of variants associated with clubfoot and arthrogrypotic hand deformation in a multigeneration Polish familyAuthors:Ewa Hordyjewska-Kowalczyk, Akshaya Ramanujam, Adrian Odrzywolski, Annemieke Verkerk, Joyce van Meurs, Grzegorz Kandzierski, Przemko TylzanowskiStatus:Accepted for publication