Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

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Investigation of genetic variants underlying variability in patients with 22q11 Deletion Syndrome.

2015/17/B/NZ5/01357

Keywords:

22q11 Deletion Syndrome arrays CGH NGS

Descriptors:

  • NZ5_3: Pathogenesis of human diseases
  • NZ2_5: Cell genetics
  • NZ5_5: Diagnostics in 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

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Beata Nowakowska 

Number of co-investigators in the project: 5

Call: OPUS 9 - announced on 2015-03-16

Amount awarded: 705 332 PLN

Project start date (Y-m-d): 2016-02-19

Project end date (Y-m-d): 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]

  1. Laptop (5 200 PLN)
  2. Komputery (10 200 PLN)

Information in the final report

  • Publication in academic press/journals (3)
  1. Clinical interpretation of copy number variants in the human genome
    Authors:
    Beata Nowakowska
    Academic press:
    J Appl Genet (rok: 2017, tom: 58(4):, strony: 449–457), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-017-0407-4 - link to the publication
  2. 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 (rok: 2023, tom: Mar 9;14(3):680, strony: 680), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/genes14030680. - link to the publication
  3. 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. (rok: 2017, tom: 10, strony: 34), Wydawca: BioMedCentral
    Status:
    Published
    DOI:
    10.1186/s13039-017-0336-2 - link to the publication

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