Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sarka Vejvalkova"'
Autor:
Věra Hořínová, Jana Paděrová, Miroslava Balascakova, Marketa Havlovicova, Gabriela Křečková, Jana Pospíšilová, Arpád Boday, Sarka Vejvalkova, Eva Kantorová, Jana Čopíková, Pavel Votýpka, Radka Kremlikova Pourova, Martina Simandlova, Petra Liskova, Jana Štěpánková, Michaela Zelinová, Marek Turnovec, Anna Uhrova Meszarosova, Věra Románková
Publikováno v:
Annals of Human Genetics. 84:380-392
We report the clinical findings of 26 individuals from 16 unrelated families carrying variants in the COL2A1 or COL11A1 genes. Using Sanger and next-generation sequencing, 11 different COL2A1 variants (seven novel), were identified in 13 families (19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ee1db103935a296890927e3d35e98e
https://doi.org/10.1111/ahg.12386
https://doi.org/10.1111/ahg.12386
Autor:
Marcela Malíková, Alena Puchmajerová, Jan Geryk, Marketa Havlovicova, Sarka Vejvalkova, Anna Křepelová, Marketa Vlckova, Radka Kremlikova Pourova, N. Ptáková, Aleš Maver, M. Šenkeříková, Martina Simandlova, Milan Macek, Jana Drabova, A. Holubová, Jana Paděrová
Publikováno v:
Clinical Genetics. 90:230-237
Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort of 14 Czech cases with clinical features suggestive of KS was analyzed by experienced clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edac65830553e8ba1642902f75a322fe
https://doi.org/10.1111/cge.12754
https://doi.org/10.1111/cge.12754
Publikováno v:
European Journal of Pediatrics. 175:587-592
Noonan syndrome (NS) is a genetic condition presenting with typical facies, cardiac defects, short stature, variable developmental deficit, cryptorchidism, skeletal, and other abnormalities. Germline mutations in genes involved in the RAS/MAPK signal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e0555ae67b1511931ef82f31847b1a6
https://doi.org/10.1007/s00431-015-2658-6
https://doi.org/10.1007/s00431-015-2658-6
Autor:
Petra Hedvicakova, Marketa Vlckova, Zuzana Zmitkova, Miroslava Hancarova, Sarka Vejvalkova, Drahuse Novotna, Zdenka Vlckova, Jana Drabova, Zdenek Sedlacek, Tatana Marikova
Publikováno v:
New Biotechnology. 29:321-324
Developmental delay is often a predictor of mental retardation (MR) or autism, two relatively frequent developmental disorders severely affecting intellectual and social functioning. The causes of these conditions remain unknown in most patients. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a060938b2627902156cdcdc19adaa50d
https://doi.org/10.1016/j.nbt.2010.10.006
https://doi.org/10.1016/j.nbt.2010.10.006
Autor:
Sarka Vejvalkova, Marketa Vlckova, Miroslava Hancarova, Zdenek Sedlacek, Alzbeta Dleskova, Marie Trkova, Jana Drabova
Publikováno v:
Gene. 516(1)
Microdeletions spanning 2p14-p15 have recently been described in two patients with developmental and speech delay and intellectual disability but no congenital malformations or severe facial dysmorphism. We report a 4-year-old boy with a de novo 3.7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60cedb7de19b04a51b009d3a0145250
https://pubmed.ncbi.nlm.nih.gov/23266801
https://pubmed.ncbi.nlm.nih.gov/23266801