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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Molecular identification of Disorders of Sex Development in patients with 46,XY karyotype.

2014/13/N/NZ5/00448

Keywords:

sex development sex genes gonads diagnostics mutations

Descriptors:

  • NZ5_1: Etiology of human diseases
  • 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 :

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu, Wydział Lekarski I

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

Zofia Kolesińska 

Number of co-investigators in the project: 3

Call: PRELUDIUM 7 - announced on 2014-03-17

Amount awarded: 113 600 PLN

Project start date (Y-m-d): 2015-03-10

Project end date (Y-m-d): 2018-03-09

Project duration:: 36 months (the same as in the proposal)

Project status: Project settled

Equipment purchased [PL]

  1. Termocykler gradientowy do reakcji PCR (20 000 PLN)

Information in the final report

  • Publication in academic press/journals (1)
  1. Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.
    Authors:
    Kolesinska Z, Acierno J Jr, Ahmed SF, Xu C, Kapuczk K, Skorczyk-Werner A, Mikos H, Rojek A, Massouras A, Krawczynski MR, Pitteloud N, Niedziela M
    Academic press:
    Endocrine Connections (rok: 2018, tom: 7, strony: 1480-1490), Wydawca: Bioscientifica LTD
    Status:
    Published
    DOI:
    10.1530/EC-18-0472 - link to the publication