Investigation of genetic variants underlying variability in patients with 22q11 Deletion Syndrome.
2015/17/B/NZ5/01357
Keywords
Descriptors
- NZ5_3: Patogeneza chorób człowieka
- NZ2_5: Cytogenetyka
- NZ5_5: Diagnostyka chorób człowieka
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
Voivodeship: mazowieckie
Principal investigator (from the host institution)
Number of co-investigators in the project: 5
Call
OPUS 9 – announced on 2015-03-16
- Amount awarded
- 705 332 PLN
- Project start date
- 2016-02-19
- Project end date
- 2019-02-18
- Project duration
- 36 months (the same as in the proposal)
- Project status
- Project settled
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.
Equipment purchased [PL]
- Komputery. Cost: 10 200 PLN
- Laptop. Cost: 5 200 PLN
Information in the final report
Publication in academic press/journals (3)
-
Clinical interpretation of copy number variants in the human genome
- Authors:
- Beata Nowakowska
- Academic press:
- J Appl Genet (year: 2017, volume: 58(4):, pages: 449–457), Publisher: Springer
- Status:
- Published
- DOI:
- 10.1007/s13353-017-0407-4 – link to the publication
-
Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region
- Authors:
- Poluha A1, Bernaciak J2, Jaszczuk I1, Kędzior M2, Nowakowska BA2
- Academic press:
- Mol Cytogenet. (year: 2017, volume: 10, pages: 34), Publisher: BioMedCentral
- Status:
- Published
- DOI:
- 10.1186/s13039-017-0336-2 – link to the publication
-
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
- Authors:
- Smyk M, Geremek M, Ziemkiewicz K, Gambin T, Kutkowska-Kaźmierczak A, Kowalczyk K, Plaskota I, Wiśniowiecka-Kowalnik B, Bartnik-Głaska M, Niemiec M, Grad D, Piotrowicz M, Gieruszczak-Białek D, Pietrzyk A, Crowley TB, Giunta V, McGinn DE, Zackai EH, Tran O, Emanuel BS, McDonald-McGinn DM, Nowakowska BA.
- Academic press:
- Genes (year: 2023, volume: Mar 9;14(3):680, pages: 680), Publisher: MDPI
- Status:
- Published
- DOI:
- 10.3390/genes14030680. – link to the publication