Zobrazeno 1 - 10
of 107
pro vyhledávání: '"Lenka Fajkusová"'
Autor:
Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová, Lenka Fajkusová
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Abstract Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvem
Externí odkaz:
https://doaj.org/article/43bc9ac616384e6fadfac80169ee5993
Autor:
Jitka Jirečková, Martin Magner, Lukáš Lambert, Alice Baxová, Alena Leiská, Lenka Kopečková, Lenka Fajkusová, Jiří Zeman
Publikováno v:
Prague Medical Report, Vol 119, Iss 4, Pp 156-164 (2019)
Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, short stature, scoliosis, shortening of th
Externí odkaz:
https://doaj.org/article/cf1ef337f8de42a18065d77f4b96c5e3
Autor:
Lucie Dušková, Lucie Nohelová, Tomáš Loja, Jana Fialová, Petra Zapletalová, Kamila Réblová, Lukáš Tichý, Tomáš Freiberger, Lenka Fajkusová
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Background: Pathogenic variants in the low density lipoprotein receptor gene are associated with familial hypercholesterolemia. Some of these variants can result in incorrect folding of the LDLR protein, which is then accumulated inside the cell and
Externí odkaz:
https://doaj.org/article/e0b1b4537abe45e4844fcda7349ffdb8
Autor:
Dagmar Procházková, Romana Borská, Lenka Fajkusová, Petra Konečná, Eliška Hloušková, Zdeněk Pavlovský, Ondřej Slabý, Šárka Pospíšilová
Publikováno v:
Diagnostics, Vol 11, Iss 6, p 983 (2021)
Background: Alagille syndrome (ALGS) is a highly variable multisystem disorder inherited in an autosomal dominant pattern with incomplete penetration. The disorder is caused by mutations in the JAG1 gene, only rarely in the NOTCH2 gene, which gives r
Externí odkaz:
https://doaj.org/article/f2e3bf17599b465ba2e9d73b86d9b2fa
Autor:
Michal Růžička, Petr Kulhánek, Lenka Radová, Andrea Čechová, Naďa Špačková, Lenka Fajkusová, Kamila Réblová
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0182377 (2017)
Mutations in human genes can be responsible for inherited genetic disorders and cancer. Mutations can arise due to environmental factors or spontaneously. It has been shown that certain DNA sequences are more prone to mutate. These sites are termed h
Externí odkaz:
https://doaj.org/article/520bf99ba6044357bd31f8fb15b851ac
Autor:
Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e82549 (2013)
Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1). Mutations of CLCN1 result in either autosomal dominant MC (Thomsen disease) o
Externí odkaz:
https://doaj.org/article/9653d61cf48c46f79d6d9e29cb829433
Autor:
Magdalena Mroczek, Inna Inashkina, Janis Stavusis, Pawel Zayakin, Andrey Khrunin, Ieva Micule, Victorija Kenina, Anna Zdanovica, Jana Zídková, Lenka Fajkusová, Svetlana Limborska, Anneke J. van der Kooi, Esther Brusse, Lea Leonardis, Ales Maver, Sander Pajusalu, Katrin Õunap, Sanna Puusepp, Paula Dobosz, Mateusz Sypniewski, Birute Burnyte, Baiba Lace
Publikováno v:
Human mutation, 43(10), 1347-1353. Wiley-Liss Inc.
Human Mutation, 43(10), 1347-1353. Wiley-Liss Inc.
Human Mutation, 43(10), 1347-1353. Wiley-Liss Inc.
The investigated intronic CAPN3 variant NM_000070.3:c.1746-20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on 14 patients carrying the CAPN3 c.17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6473aff6ee811641d344ebecedcea42c
http://www.scopus.com/inward/record.url?scp=85132317495&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85132317495&partnerID=8YFLogxK
Autor:
Lenka Fajkusová, Jana Zídková
Publikováno v:
Neurologie pro praxi. 23:50-53
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9cb122ba5e1a8a2a740a156af695d8cc
https://doi.org/10.36290/neu.2021.071
https://doi.org/10.36290/neu.2021.071
Autor:
Dagmar Procházková, Romana Borská, Petr Chrastina, Lenka Fajkusová, Petra Konečná, Kateřina Slabá, Jan Šenkyřík, Karolína Pešková, Petr Jabandžiev, Tomáš Honzík
Publikováno v:
Česká a slovenská neurologie a neurochirurgie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e623fc23afff0bb21509dc03f86f1130
https://doi.org/10.48095/cccsnn202383
https://doi.org/10.48095/cccsnn202383
Autor:
Jana Zídková, Lenka Fajkusová
Publikováno v:
Neurologie pro praxi. 22:100-103
Pletencove svalove dystrofie (LGMD, Limb-Girdle Muscular Dystrophies) jsou klinicky a geneticky heterogenni skupinou onemocněni. Doposud bylo identifikovano 29 genů asociovaných s LGMD, ktere rozděluji LGMD do 29 subtypů. Asi 10 % LGMD ma domina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54728a299924badd1f5502b14dd8a035
https://doi.org/10.36290/neu.2020.107
https://doi.org/10.36290/neu.2020.107