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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Fetal vascular accident hypothesis (antenatal thrombosis) as a cause of unilateral limb reduction defects in man

2011/03/B/NZ5/00510

Keywords:

congenital developmental defects congenital limb defect limb reduction defect thrombophilia antenatal thrombosis antenatal vascular accident

Descriptors:

  • NZ5_3: Pathogenesis of human diseases
  • NZ7_12: Prevention of human diseases
  • NZ5_1: Etiology of 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, Katedra i Zakład Genetyki Medycznej

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr hab. Aleksander Jamsheer 

Number of co-investigators in the project: 7

Call: OPUS 2 - announced on 2011-09-15

Amount awarded: 1 186 400 PLN

Project start date (Y-m-d): 2012-09-19

Project end date (Y-m-d): 2016-09-18

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

Project status: Project settled

Equipment purchased [PL]

  1. komputer notebook z oprogramowaniem i wyposażeniem dodatkowym (6 000 PLN)

Information in the final report

  • Publication in academic press/journals (2)
  1. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene
    Authors:
    Aleksander Jamsheer, Anna Sowińska-Seidler, Ewelina M Olech, Magdalena Socha, Kazimierz Kozłowski, Antoni Pyrkosz, Tomasz Trzeciak, Anna Materna-Kiryluk, Anna Latos-Bieleńska
    Academic press:
    Journal of Human Genetics (rok: 2016, tom: 172, strony: 45296), Wydawca: Nature Publishing Group
    Status:
    Published
    DOI:
    0.1038/jhg.2015.172 - link to the publication
  2. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
    Authors:
    Aleksander Jamsheer, Ewelina M. Olech, Kazimierz Kozłowski, Marek Niedziela, Anna Sowińska-Seidler, Monika Obara-Moszyńska, Anna Latos-Bieleńska, Marek Karczewski, Tomasz Zemojtel
    Academic press:
    Journal of Human Genetics (rok: 2016, tom: 172, strony: 45298), Wydawca: Nature Publishing Group
    Status:
    Published
    DOI:
    10.1038/jhg.2016.30 - link to the publication

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