Projects funded by the NCN

Information on the principal investigator and host institution

Information of the project and the call

Keywords

Equipment

Delete all

Identification of novel genetics variants as the cause of the premature closure of the cranial sutures in children using novel sequencing techniques and array comparative genomic hybridization

2016/23/N/NZ5/02577

Keywords:

craniosynostosis skull development clinical genetics next generation sequencing custom gene panels array CGH structural variants CNV TAD domains

Descriptors:

  • NZ5_1: Etiology 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 :

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu, Wydział Lekarski

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

Ewelina Bukowska-Olech 

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): 2017-10-11

Project end date (Y-m-d): 2020-10-10

Project duration:: 36 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.

Identification of novel genetics variants as the cause of the premature closure of the cranial sutures in children using novel sequencing techniques and array comparative genomic hybridization

2016/23/N/NZ5/02577

Keywords:

craniosynostosis skull development clinical genetics next generation sequencing custom gene panels array CGH structural variants CNV TAD domains

Descriptors:

  • NZ5_1: Etiology 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 :

Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu, Wydział Lekarski

woj. wielkopolskie

Other projects carried out by the institution 

Principal investigator (from the host institution):

Ewelina Bukowska-Olech 

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): 2017-10-11

Project end date (Y-m-d): 2020-10-10

Project duration:: 36 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.

Equipment purchased [PL]

  1. bd.

Information in the final report

  • Publication in academic press/journals (6)
  1. Targeted next-generation sequencing in the dagnosis of facial dysostoses
    Authors:
    Ewelina Bukowska-Olech, Anna Materna-Kiryluk, Joanna Walczak-Sztulpa, Delfina Popiel, Magdalena Badura-Stronka, Grzegorz Koczyk, Adam Dawidziuk, Aleksander Jamsheer
    Academic press:
    Frontiers in Genetics (rok: 2020, tom: 11, strony: nd), Wydawca: Frontiers
    Status:
    Published
    DOI:
    10.3389/fgene.2020.580477 - link to the publication
  2. Functional analysis of novel RUNX2 mutations identified in patients with Cleidocranial dysplasia
    Authors:
    Ewa Hordyjewska-Kowalczyk*, Anna Sowińska-Seidler*, Ewelina M. Olech, Magdalena Socha, Renata Glazar, Anna Kruczek, Anna Latos-Bieleńska, Przemko Tylzanowski, Aleksander Jamsheer
    Academic press:
    Clinical Genetetics (rok: 2019, tom: 5, strony: 429-439), Wydawca: Wiley Online Library
    Status:
    Published
    DOI:
    10.1111/cge.13610 - link to the publication
  3. Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis
    Authors:
    Ewelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowińska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer
    Academic press:
    Scientific Reports (rok: 2020, tom: 5, strony: nd), Wydawca: Nature
    Status:
    Published
    DOI:
    10.1038/s41598-020-61048-5 - link to the publication
  4. Compound craniosynostosis as an additional feature of Noonan-like facial dysmorphism associated with haploinsufficiency of the BRAF gene
    Authors:
    Ewelina Bukowska-Olech, Monika Dmitrzak-Węglarz, Dawid Larysz, Bartosz Wojciechowicz, Dorota Simon, Joanna Walczak-Sztulpa, Aleksander Jamsheer
    Academic press:
    Birth Defects Research (rok: 2020, tom: 112, strony: 740-748), Wydawca: Wiley
    Status:
    Published
    DOI:
    10.1002/bdr2.1744 - link to the publication
  5. Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome with early onset end-stage renal disease
    Authors:
    Joanna Walczak-Sztulpa, Renata Posmyk*, Ewelina M. Bukowska-Olech*, Anna Wawrocka, Aleksander Jamsheer1, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
    Academic press:
    Orphanet Journal or Rare Diseases (rok: 2020, tom: 15, strony: n.d.), Wydawca: Springer Nature
    Status:
    Published
    DOI:
    10.1186/s13023-020-1303-2 - link to the publication
  6. Further phenotypic delineation of the auriculocondylar syndrometype 2 with literature review
    Authors:
    Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Filip Łojek, Delfina Popiel, Joanna Walczak-Sztulpa, Aleksander Jamsheer
    Academic press:
    Journal of Applied Genetics (rok: 2020, tom: nd, strony: nd), Wydawca: Springer
    Status:
    Published
    DOI:
    10.1007/s13353-020-00591-3 - link to the publication

O Narodowym Centrum Nauki

Finansowanie nauki

Współpraca zagraniczna

Centrum prasowe

Deklaracja dostępności
Przetwarzanie danych osobowych
Polityka cookies

Partnerzy