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Mutational load in children with prelingual deafness - searching for a novel predictive factor to assess the outcome of cochlear implantation

2017/27/N/NZ5/02369

Keywords

Descriptors

  • NZ5_3: Patogeneza chorób człowieka
  • NZ5_5: Diagnostyka chorób człowieka

Panel

NZ5 – Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution

Instytut Fizjologii i Patologii Słuchu

Voivodeship: mazowieckie

Other projects carried out by the institution »

Principal investigator (from the host institution)

dr Dominika Daria Oziębło

Number of co-investigators in the project: 3

Call

PRELUDIUM 14 – announced on 2017-09-15

Amount awarded
209 520 PLN
Project start date
2018-08-10
Project end date
2023-08-09
Project duration
60 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 (2)

  1. Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants

    Authors:
    Oziębło D., Obrycka A., Lorens A., Skarżyński H., Ołdak M.
    Academic press:
    Journal of Clinical Medicine (year: 2020, volume: 9(1), pages: nie dotyczy), Publisher: MDPI
    Status:
    Published
    DOI:
    10.3390/jcm9010228 – link to the publication

  2. Searching for the Molecular Basis of Partial Deafness

    Authors:
    Ozieblo D., Bałdyga N., Leja M.L., Skarzynski H., Oldak M.
    Academic press:
    International Journal of Molecular Sciences (year: 2022, volume: 23(11), pages: nie dotyczy), Publisher: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms23116029 – link to the publication

Articles in post-conference publications (6)

  1. Częściowa głuchota i jej uwarunkowania genetyczne.

    Authors:
    Oziębło D., Bałdyga N., Leja M.L., Skarżyński H., Ołdak M.
    Conference:
    XLV Krajowa Konferencja Naukowo-Szkoleniowa Problemy otorynolaryngologii dziecięcej w codziennej praktyce (year: 2022, pages: 79-80), Publisher: Instytut Narządów Zmysłów ul. Mokra 1, Kajetany 05-830 Nadarzyn
    Date:
    conference 17–19.11.2022
    Status:
    Published

  2. Niedosłuch syndromiczny u dzieci z implantem ślimakowym.

    Authors:
    Oziębło D., Ołdak M.
    Conference:
    XV Konferencja Naukowo-Szkoleniowa Sekcji Audiologicznej i Sekcji Foniatrycznej Polskiego Towarzystwa Otorynolaryngologów Chirurgów Głowy i Szyi (year: 2022, pages: 77-78), Publisher: Instytut Narządów Zmysłów, ul. Mokra 1, Kajetany 05-830 Nadarzyn
    Date:
    conference 10-11.04.2022
    Status:
    Published

  3. Genetic heterogeneity of hearing loss causes in cochlear-implanted children.

    Authors:
    Oziębło D., Skarżyński H., Ołdak M.
    Conference:
    XXXV World Conges of Audiology (year: 2022, pages: 91), Publisher: Institute of Sensory Organs, 1 Mokra Street Kajetany, 05-830 Nadarzyn
    Date:
    conference 10-13.04.2022
    Status:
    Published

  4. Cochlear implantation outcome in patients with DFNB1 locus pathogenic variants

    Authors:
    Oziębło D., Obrycka A., Lorens A., Skarżyński H., Ołdak M.
    Conference:
    32nd Politzer Society Meeting and 2nd World Congress of Otology (year: 2019, pages: 78-79), Publisher: Institute of Sensory Organs, 1 Mokra Street Kajetany, 05-830 Nadarzyn
    Date:
    conference 43613
    Status:
    Published

  5. Wide spectrum of genetic hearing loss causes and large number of novel variants in cochlea implanted children

    Authors:
    Ozieblo D., Leja M., Skarzynski H., Oldak M.
    Conference:
    53rd European Society of Human Genetics (ESHG) Conference (year: 2020, pages: 190), Publisher: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, England
    Date:
    conference 43988
    Status:
    Published

  6. Cochlear implantation outcome in patients with DFNB1 locus pathogenic variants - implications for precision medicine

    Authors:
    D. Ozieblo, A. Obrycka, A. Lorens, H. Skarzynski, M. Oldak
    Conference:
    52nd European Society of Human Genetics (ESHG) Conference (year: 2019, pages: 1227-1228), Publisher: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, England
    Date:
    conference 43631
    Status:
    Published

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