The influence of genetic and epigenetic variability on phenotypic discordance - monozygotic twins study
2014/13/B/NZ5/00287
Keywords
Descriptors
- NZ5_1: Etiologia chorób człowieka
- NZ2_2: Genomika, transkryptomika i epigenomika
Panel
NZ5 – Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)
Host institution
Warszawski Uniwersytet Medyczny, I Wydział Lekarski
Voivodeship: mazowieckie
Principal investigator (from the host institution)
dr Małgorzata Aleksandra Rydzanicz
Number of co-investigators in the project: 5
Call
OPUS 7 – announced on 2014-03-17
- Amount awarded
- 1 261 470 PLN
- Project start date
- 2015-02-18
- Project end date
- 2019-02-17
- Project duration
- 48 months (the same as in the proposal)
- Project status
- Project settled
Equipment purchased [PL]
- Aktualizacja oprogramowania platformy genomowej HiSeq 1500. Cost: 73 100 PLN
- BluePippin.
Information in the final report
Publication in academic press/journals (3)
-
Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy
- Authors:
- Jezela-Stanek A, Walczak A, Łaźniewski M, Kosińska J, Stawiński P, Murcia Pienkowski V, Biernacka A, Rydzanicz M, Kostrzewa G, Krajewski P, Plewczyński D, Płoski R
- Academic press:
- Clinical Genetics (year: 2019, volume: Mar.28, pages: 46025), Publisher: Wiley
- Status:
- Published
- DOI:
- 10.1111/cge.13534 – link to the publication
-
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications
- Authors:
- Małgorzata Rydzanicz, Pawel Olszewski, Darek Kedra, Hanna Davies, Natalia Filipowicz, Bozena Bruhn-Olszewska, Marco Cavalli, Krzysztof Szczałuba, Marlena Młynek, Marcin M. Machnicki, Piotr Stawiński, Grażyna Kostrzewa, Paweł Krajewski, Dariusz Śladowski, Krystyna Chrzanowska, Jan P. Dumanski, Rafał Płoski
- Academic press:
- Molecular Genetics & Genomic Medicine (year: 2021, volume: 1, pages: 46031), Publisher: Wiley
- Status:
- Published
- DOI:
- 10.1002/mgg3.1526 – link to the publication
-
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis
- Authors:
- Małgorzata Rydzanicz, Wojciech Glinkowski, Anna Walczak, Agnieszka Koppolu, Grażyna Kostrzewa, Piotr Gasperowicz, Agnieszka Pollak, Piotr Stawiński, Rafał Płoski
- Academic press:
- American Journal of Medical Genetics part A (year: 2022, volume: 188()5), pages: 1482-1487), Publisher: WILEY
- Status:
- Published
- DOI:
- 10.1002/ajmg.a.62670 – link to the publication