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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Analysis of genetic mosaicism in Cornelia de Lange Syndrome

2014/15/B/NZ5/03503

Keywords:

Cornelia de Lange Syndrome cohesion complex genetic mosaicism

Descriptors:

  • NZ5_3: Pathogenesis 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 :

Gdański Uniwersytet Medyczny, Wydział Lekarski

woj. pomorskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Bartosz Wasąg 

Number of co-investigators in the project: 4

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

Amount awarded: 641 540 PLN

Project start date (Y-m-d): 2015-07-17

Project end date (Y-m-d): 2019-07-16

Project duration:: 48 months (the same as in the proposal)

Project status: Project settled

Equipment purchased [PL]

  1. Komputer stacjonarny i akcesoria (10 000 PLN)

Information in the final report

  • Publication in academic press/journals (3)
  • Articles in post-conference publications (1)
  1. Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome.
    Authors:
    Natalia Krawczyńska, Jolanta Wierzba, Bartosz Wasąg
    Academic press:
    Frontiers in Pediatrics (rok: 2019, tom: vol. 7, strony: 45298), Wydawca: Frontiers
    Status:
    Published
    DOI:
    10.3389/fped.2019.00203 - link to the publication
  2. Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.
    Authors:
    Natalia Krawczyńska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasąg
    Academic press:
    BMC Medical Genetics (rok: 2019, tom: vol.20, strony: 45297), Wydawca: BMC
    Status:
    Published
    DOI:
    10.1186/s12881-018-0738-y - link to the publication
  3. Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
    Authors:
    Natalia Krawczyńska, Alina Kużniacka, Jolanta Wierzba, Ilaria Parenti, Frank J. Kaiser, Bartosz Wasąg
    Academic press:
    Frontiers in Genetics (rok: 2018, tom: vol. 9, strony: 45296), Wydawca: Frontiers
    Status:
    Published
    DOI:
    10.3389/fgene.2018.00255 - link to the publication
  1. Novel mutation in a patient with Cornelia de Lange Syndrome
    Authors:
    Natalia Krawczyńska, Alina Kuźniacka, Janusz Limon, Jolanta Wierzba, Bartosz Wasąg
    Conference:
    V Polski Kongres Genetyki (rok: 2016, ), Wydawca: Polskie Towarzystwo Genetyczne, Polskie Towarzystwo Genetyki Człowieka
    Data:
    konferencja 19-22 września 2016
    Status:
    Published

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