Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Petra Hedvicakova"'
Autor:
Petra Hedvicakova, Kateřina Machová, Marie Rohlenová, Jitka Venclová-Žáčková, Jana Haberlová, Jakub Zieg, Veronika Stará, Tereza Doušová, Ondřej Souček, Lenka Fajkusová
Publikováno v:
Česká a slovenská neurologie a neurochirurgie. :305-314
Publikováno v:
Neurologie pro praxi. 17:349-353
Spinalni svalove atrofie (SMA) jsou skupinou dědicných degenerativnich chorob postihujicich alfa motoneurony přednich rohů misnich. Klinicky se projevuji progresivni zejmena proximalni svalovou slabosti. Jedna se o heterogenni skupinu, až 95 % v
Autor:
Pavel Seeman, B. Petrak, Josef Zamecnik, Klara Pavlickova, Ludmila Hornofova, Lenka Mrazkova, Mahulena Mojzisova, Jaroslava Paulasová Schwabová, Marie Kaluzova, Petra Hedvicakova, Filip Fencl, Dana Safka Brozkova, Jana Haberlová, Marcela Krutova
Publikováno v:
Journal of Neurogenetics. 27:163-169
Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency
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
Autor:
Josef Zamecnik, Tat’ána Maříková, Jana Sedláčková, Lenka Fajkusová, Petr Vondráček, Markéta Hermanová, Josef Kraus, Zuzana Hrubá, Petra Hedvicakova, Jana Haberlová, Stanislav Voháňka
Publikováno v:
Neuromuscular Disorders. 19:749-753
Duchenne and Becker muscular dystrophies (DMD/BMD) are associated with mutations in the DMD gene. We determined the mutation status of 47 patients with dystrophinopathy without deletion or duplication in the DMD gene by screening performed by reverse
Publikováno v:
American Journal of Medical Genetics Part A. :1955-1962
Prader-Willi syndrome (PWS) is caused by the disturbed expression of genes from the imprinted region of 15q11-q13, but the specific contributions of individual genes remain unknown. Most paternal PWS deletions are bracketed by recurrent breakpoints B
Publikováno v:
Neuromuscular Disorders. 26:S125
Autor:
Renata Gaillyová, Lenka Fajkusová, Petra Hedvicakova, Věra Juttnerová, Jiří Fajkus, Eva Zapletalová, Libor Kozák, Zdeněk Kalina, Tat’ána Mařı´ková, Petr Vondráček
Publikováno v:
Neuromuscular disorders : NMD. 17(6)
Spinal muscular atrophy (SMA) is caused by homozygous deletion of the SMN1 gene in approximately 96% of cases. Four percent of SMA patients have a combination of the deletion or conversion on one allele and an intragenic mutation on the second one. W
Autor:
Anna Krepelova, Marie Trkova, David Sumerauer, Petra Hedvicakova, Vera Krutilkova, Julie M. Fleitz, Kamila Novotna, Vladimir Gregor, Nicholas K. Foreman, Sarka Bendova, Simona Siruckova, Pavlína Plevová, Zdenek Sedlacek, Roman Kodet
Publikováno v:
European journal of cancer (Oxford, England : 1990). 41(11)
We present five families of paediatric patients suffering from choroid plexus carcinoma in which we found germline TP53 mutations. Only one of the families conformed to the criteria of Li-Fraumeni syndrome and only three (including the Li-Fraumeni sy
Publikováno v:
Cancer genetics and cytogenetics. 145(1)
We identified a missense germline mutation (Gly245Ser) in one of the mutation hot spots of the TP53 gene in two affected members of a Li-Fraumeni syndrome family. We also analyzed their tumors, a liposarcoma and a colorectal carcinoma. Both tumors ex