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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Identyfikacja podłoża molekularnego rozszczepu dłoni i/lub stóp w populacji polskiej.

2013/08/T/NZ2/00027

Keywords:

Descriptors:

  • NZ5_5: Diagnostics in human diseases
  • NZ5_3: Pathogenesis of human diseases
  • NZ5_1: Etiology of human diseases

Panel:

NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology

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):

dr Anna Sowińska-Seidler 

Number of co-investigators in the project: 2

Call: ETIUDA 1 - announced on 2012-12-15

Amount awarded: 88 192 PLN

Project start date (Y-m-d): 2013-10-01

Project end date (Y-m-d): 2014-09-30

Project duration:: 12 months (the same as in the proposal)

Project status: Project settled

Information in the final report

  • Publication in academic press/journals (4)
  • Articles in post-conference publications (1)
  1. Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
    Authors:
    Sowińska-Seidler Anna, Badura-Stronka Magdalena, Latos-Bieleńska Anna, Stronka Michał, Jamsheer Aleksander
    Academic press:
    Birth Defects Res A Clin Mol Teratol. (rok: 2014, tom: 100(10), strony: 764-771), Wydawca: Wiley Online Library
    Status:
    Published
    DOI:
    10.1002/bdra.23298. - link to the publication
  2. Split-hand/foot malformation - molecular cause and implications in genetic counseling.
    Authors:
    Sowińska-Seidler Anna, Socha Magdalena, Jamsheer Aleksander
    Academic press:
    Journal of Applied Genetics (rok: 2014, tom: 55(1), strony: 105-115), Wydawca: Springer Berlin Heidelberg
    Status:
    Published
    DOI:
    10.1007/s13353-013-0178-5 - link to the publication
  3. Noncoding copy-number variations are associated with congenital limb malformation.
    Authors:
    Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M.
    Academic press:
    Genetics in Medicine (rok: 2017, tom: w druku, strony: w druku), Wydawca: Nature Publishing Group
    Status:
    Published
    DOI:
    10.1038/gim.2017.154. - link to the publication
  4. Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene.
    Authors:
    Sowińska-Seidler Anna, Piwecka Monika, Olech Ewelina, Socha Magdalena, Latos-Bieleńska Anna, Jamsheer Aleksander
    Academic press:
    Journal of Applied Genetics (rok: 2015, tom: 56(2), strony: 177-184), Wydawca: Springer Berlin Heidelberg
    Status:
    Published
    DOI:
    10.1007/s13353-014-0252-7 - link to the publication
  1. CRSPR-Cas9 – an innovative technology for genome editing and regulation: mechanisms and applications
    Authors:
    Anna Sowińska-Seidler, Magdalena Socha, Malte Spielmann, Stefan Mundlos and Aleksander Jamsheer
    Conference:
    V Polski Kongres Genetyki (rok: 2016, ), Wydawca: Grupa Medica s.c.; ul. Pomorska 40, 91-408 Łódź; tel. 42 630 01 88, Fax 42 630 07 74; email: biuro@grupamedica.pl; www.grupamedica.pl
    Data:
    konferencja 19-22.09.2016
    Status:
    Published

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