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Solving the puzzle of deep intronic splicing variants as missing elements in the genetic landscape of Usher syndrome

2020/37/N/NZ5/02800

Keywords

Descriptors

  • NZ5_003: Patogeneza chorób człowieka
  • NZ5_005: 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)

Natalia Bałdyga

Number of co-investigators in the project: 3

Call

PRELUDIUM 19 – announced on 2020-03-16

Amount awarded
209 928 PLN
Project start date
2021-09-20
Project end date
2026-09-19
Project duration
60 months (the same as in the proposal)
Project status
Pending project

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

Articles in post-conference publications (5)

  1. Success of targeted sequencing in the search for genetic causes of Usher syndrome type 2

    Authors:
    Bałdyga Natalia, Oziębło Dominika, Skarżyński Henryk, Ołdak Monika
    Conference:
    XIII INTERNATIONAL ACADEMIC CONFERENCE ORLIAC, 13–15 APRIL 2025, WARSAW/KAJETANY, POLAND (year: 2025, volume: XIII Otorhinolaryngology International Academic Conference ORLIAC, pages: 111), Publisher: Institute of Sensory Organs 1 Mokra Street, Kajetany 05-830 Nadarzyn, Poland
    Date:
    conference 13-15.04.2025
    Status:
    Published
    DOI:
    10.17430/jhs/203340 – link to the publication

  2. Znaczny udział wariantów genu USH2A w powstawaniu niedosłuchu w stopniu lekkim do umiarkowanego.

    Authors:
    Natalia Bałdyga, Dominika Oziębło, Marcin Leja, Magdalena Pankowska, Henryk Skarżyński, Monika Ołdak
    Conference:
    XLVII Krajowa Konferencja Naukowo-Szkoleniowa Problemy otorynolaryngologii dziecięcej w codziennej praktyce – UCHO 2024, 15–17 września 2024, Warszawa/Kajetany (year: 2024, volume: LVI Konferencja Naukowo-Szkoleniowa Problemy otorynolaryngologii dziecięcej w codziennej praktyce – UCHO 2024, pages: 94), Publisher: Instytut Narządów Zmysłów, ul. Mokra 1, 05-830 Kajetany
    Date:
    conference 15-17.09.2024
    Status:
    Published
    DOI:
    10.17431/na/192823 – link to the publication

  3. Istotny udział wariantów genu USH2A w powstawaniu niedosłuchu w stopniu lekkim do umiarkowanego

    Authors:
    Bałdyga Natalia, Oziębło Dominika, Leja Marcin, Pankowska Zuzanna, Skarżyński Henryk, Ołdak Monika
    Conference:
    XVIII Konferencja Naukowo-Szkoleniowa Sekcji Audiologicznej i Sekcji Foniatrycznej Polskiego Towarzystwa Otorynolaryngologów Chirurgów Głowy i Szyi – AUDIOFON 2025, 13–15 Kwietnia 2025 r., Warszawa/Kajetany (year: 2025, volume: XVIII Konferencja Naukowo-Szkoleniowa Audiofon 2025, pages: 107), Publisher: Instytut Narządów Zmysłów ul. Mokra 1, Kajetany 05-830 Nadarzyn
    Date:
    conference 13-15.04.2025
    Status:
    Published
    DOI:
    10.17431/na/202712 – link to the publication

  4. Success of targeted sequencing in the search for genetic causes of Usher syndrome type 2

    Authors:
    Dominika Ozieblo, Natalia Baldyga, Janine Reurink, Henryk Skarzynski, Hannie Kremer, Monika Oldak
    Conference:
    59th Inner Ear Biology Workshop, 15–17 September 2024, Warsaw, Poland (year: 2024, volume: 59th Inner Ear Biology Workshop, pages: 138), Publisher: Institute of Sensory Organs, 1 Mokra Street, Kajetany, 05-830 Nadarzyn, Poland
    Date:
    conference 15-17.09.2024
    Status:
    Published
    DOI:
    10.17430/jhs/192760 – link to the publication

  5. Success of Targeted Sequencing in the Search for Genetic Causes of Usher Syndrome Type 2

    Authors:
    Dominika Ozieblo, Janine Reurink, Natalia Baldyga, Henryk Skarzynski, Hannie Kremer, Monika Oldak
    Conference:
    Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Hybrid Posters (year: 2024, volume: 57th European Society of Human Genetics (ESHG) Conference, pages: 1341), Publisher: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, England
    Date:
    conference 01-04.06.2024
    Status:
    Published
    DOI:
    10.1038/s41431-024-01734-4 – link to the publication

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