Zobrazeno 1 - 10 of 158 pro vyhledávání: '"Stekrová, J."'
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Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene
Autor: B Janosikova, J Kotlas, Stekrová J, L Obeidova, Markéta Urbanová, J Lastuvkova, Katerina Hirschfeldova, M Lukas
Publikováno v: Neoplasma. 66:294-300
During standard molecular diagnostic procedure, two Czech families with APC (Adenomatous polyposis coli gene) mosaicism have been detected. A woman with attenuated familial adenomatous polyposis (AFAP, OMIM #175100) was recently inspected by next gen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::decb9d2942610fb7e7e661e84fd6a52d
https://doi.org/10.4149/neo_2018_180731n559
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3
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
Autor: Martina Florianova, Vera Kebrdlova, Katerina Hirschfeldova, Stekrová J, Markéta Urbanová
Publikováno v: Journal of Human Genetics. 62:253-257
Heterozygous aberrations of SHOX gene have been reported to be responsible for Leri-Weill dyschondrosteosis (LWD) and small portion of idiopathic short stature. The study was established to assess effectiveness of using phenotype 'scoring form' in pa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707a52e64c282a40ba897078c2526cef
https://doi.org/10.1038/jhg.2016.117
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4
Akademický článek
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5
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
Autor: Jaroslav Kotlas, Martina Florianova, Petr Lněnička, Lucie Schwarzova, Milada Kohoutová, Stekrová J, Michaela Schneiderova, Kamila Veselá, Aleš Novotný, Věra Kebrdlová
Publikováno v: Familial Cancer. 12:35-42
Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome with almost 100 % risk of colorectal cancer. The typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by extracolonic manifestations, later o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47108a130589230e91b8713466ac60bc
https://doi.org/10.1007/s10689-012-9569-8
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6
Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease
Autor: Jan Janda, Květa Bláhová, Alena Puchmajerová, Filip Fencl, Stekrová J, Tomáš Seeman, Zdeněk Hříbal
Publikováno v: Pediatric Nephrology. 24:983-989
Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of this study was to compare phenotypes between children with mutations in the PKD1/PKD2 gene
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2069cb5e12fb76205cef0d023f4ae5ca
https://doi.org/10.1007/s00467-008-1090-9
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8
Influence of Endothelin-1 Gene Polymorphisms on the Progression of Autosomal Dominant Polycystic Kidney Disease
Autor: Miroslav Merta, Romana Rysava, R. Cibulka, Stekrová J, Z. Říhová, Jiří Motáň, Jana Reiterova, Z. Čabartová, Vladimír Tesař, Dita Maixnerova
Publikováno v: Kidney and Blood Pressure Research. 29:182-188
Background/Aim:A significant phenotypical variability is observed in autosomal dominant polycystic kidney disease (ADPKD). The variability cannot be fully explained by the genetic heterogeneity of the disease. Endothelin-1 (ET-1) has been suggested t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf5d43f479f40e2065dec0c83510ceec
https://doi.org/10.1159/000095504
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10
PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease
Autor: Milada Kohoutová, Miroslav Merta, Stekrová J, Vera Kebrdlova, Jirt Damborsky, Jana Zidovska, Jana Reiterova
Publikováno v: Nephrology Dialysis Transplantation. 19:1116-1122
Background. Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous and caused by mutations in at least three different loci. Based on linkage analysis, mutations in the PKD2 gene are responsible for � 15% of the cases. PK
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34c9a7791f35086a51ffd24e3cf66ace
https://doi.org/10.1093/ndt/gfh083
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