Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Radka Jaklova"'
Autor:
Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionRomani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes that are affected in Alport syndrome (AS), a common cause of genetic kidney diseas
Externí odkaz:
https://doaj.org/article/a61fd3b445844401ac3d8d045e9d77aa
Autor:
Renata Pomahacova, Jana Zamboryova, Petra Paterova, Anna Krepelova, Ivan Subrt, Radka Jaklova, Petra Vohradska, Eliska Hrdonkova, Josef Sykora
Publikováno v:
Biomedical Papers, Vol 163, Iss 4, Pp 379-382 (2019)
Background: The complete androgen insensitivity syndrome (CAIS) is a rare genetic disorder causing insensitivity to androgens in a person with female phenotype and 46,XY karyotype due to a mutation in the androgen receptor gene located on chromosome
Externí odkaz:
https://doaj.org/article/0332d4c50b394dc4aa42a5bae7d2cb0d
Autor:
Renata, Pomahacova, Jana, Zamboryova, Petra, Paterova, Anna, Krepelova, Ivan, Subrt, Radka, Jaklova, Petra, Vohradska, Eliska, Hrdonkova, Josef, Sykora
Publikováno v:
Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia. 163(4)
The complete androgen insensitivity syndrome (CAIS) is a rare genetic disorder causing insensitivity to androgens in a person with female phenotype and 46,XY karyotype due to a mutation in the androgen receptor gene located on chromosome X. These chi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4b6a6d80d6c40b57b6ea9838ba40b1f1
https://pubmed.ncbi.nlm.nih.gov/30401990
https://pubmed.ncbi.nlm.nih.gov/30401990
Autor:
Radka Jaklova, Radim Mazanec, Tomas Prochazka, Edvard Ehler, Zuzana Musova, Josef Kraus, Tatana Marikova, Zdenek Sedlacek, Jiri Vales, Petr Koukal, Anna Krepelova, Marketa Havlovicova
Publikováno v:
American Journal of Medical Genetics Part A. :1365-1374
Myotonic dystrophy type 1 is caused by the expansion of a CTG repeat in the 3′ UTR of the DMPK gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35–49 triplets are not disease-causing but show instability in interg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05041fab9766da3cbe979eafa0c6673b
https://doi.org/10.1002/ajmg.a.32987
https://doi.org/10.1002/ajmg.a.32987