Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

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Identification of novel structural variants in patients presenting with congenital limb malformations by means of the genome-wide oligonucleotide microarrays (array-CGH).

2016/23/N/NZ2/02362

Keywords:

medical genetics congenital limb malformations array-CGH structural variants CNVs cis-regulatory regions topologically associated domains (TADs)

Descriptors:

  • NZ2_1: Molecular genetics
  • NZ2_2: Genomics, transcriptomics, epigenomics
  • NZ5_3: Pathogenesis 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

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Magdalena Socha 

Number of co-investigators in the project: 2

Call: PRELUDIUM 12 - announced on 2016-09-15

Amount awarded: 150 000 PLN

Project start date (Y-m-d): 2017-07-25

Project end date (Y-m-d): 2022-05-24

Project duration:: 58 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.

Information in the final report

  • Publication in academic press/journals (3)
  • Articles in post-conference publications (2)
  1. A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome
    Authors:
    Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
    Academic press:
    Journal of Applied Genetics (rok: 2022, tom: -, strony: -), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-022-00743-7 - link to the publication
  2. Duplication of 10q24 locus: broadening the clinical and radiological spectrum
    Authors:
    Muriel HOLDER-ESPINASSE*, Aleksander JAMSHEER*, Fabienne ESCANDE, Joris ANDRIEUX, Florence PETIT, Anna SOWINSKA-SEIDLER, Magdalena SOCHA, Anna JAKUBIUK-TOMASZUK, Marion GERARD, Michèle MATHIEU-DRAMARD, Valérie CORMIER-DAIRE, Alain VERLOES, Annick TOUTAIN, Ghislaine PLESSIS, Philippe JONVEAUX, Clarisse BAUMANN, Albert DAVID, Chantal FARRA, Estelle COLIN, Sébastien JACQUEMONT, Annick ROSSI, Sahar MANSOUR, Neeti GHALI, Anne MONCLA, Nayana LAHIRI, Jane HURST, Elena POLLINA, Christine PATCH, Anne-Sylvie VALAT2, Aurélie MEZEL, Philippe BOURGEOT, Sylvie MANOUVRIER-HANU
    Academic press:
    European Journal of Human Genetics (rok: 2019, tom: 27, strony: 525-534), Wydawca: Nature Publishing Group
    Status:
    Published
    DOI:
    10.1038/s41431-018-0326-9 - link to the publication
  3. Position effects at the FGF8 locus are associated with femoral hypoplasia
    Authors:
    Magdalena Socha*, Anna Sowińska-Seidler*, Uira ́Souto Melo, Bjørt K. Kragesteen, Martin Franke, Verena Heinrich, Robert Schopflin, Inga Nagel, Nicolas Gruchy, Stefan Mundlos, Varun K.A. Sreenivasan, Cristina Lopez, Martin Vingron, Ewelina Bukowska-Olech, Malte Spielmann*, Aleksander Jamsheer*
    Academic press:
    The American Journal of Human Genetics (rok: 2021, tom: 108, strony: 1725-1734), Wydawca: Cell Press
    Status:
    Published
    DOI:
    10.1016/j.ajhg.2021.08.001 - link to the publication
  1. Different types of aberrations at 7q21.2-q21.3 locus in patients affected with isolated or syndromic form of split-hand/foot malformation - genotype-phenotype correlation
    Authors:
    Anna Sowińska-Seidler, Magdalena Socha, Anna Materna-Kiryluk, Aleksander Jamsheer
    Conference:
    EUROlinkCAT European Conference, Health and education outcomes of children across Europe with congenital anomalies (rok: 2022, ), Wydawca: Wydawnictwo Naukowe UMP
    Data:
    konferencja 7-8.04.2022
    Status:
    Published
    DOI:
    link to the publication
  2. Genotype-phenotype correlation of aberrations at 7q21.2-q21.3 locus in patients affected with isolated or syndromic form of split-hand/foot malformation
    Authors:
    Anna Sowińska-Seidler, Magdalena Socha, Anna Materna-Kiryluk, Aleksander Jamsheer
    Conference:
    The European Human Genetics Conference 2021 (rok: 2022, ), Wydawca: European Journal of Human Genetics
    Data:
    konferencja 28-31.08.2021
    Status:
    Published

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