Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Petr Janoušek"'
Publikováno v:
Onkologie. 11:315-318
Polymorbidni 64letý pacient byl planovaně hospitalizovan na Odděleni rekonstrukcni chirurgie KPRCH FN Brno. Pacient byl lecen pro neoplazii laryngu, a to chirurgicky laryngektomii, blokovou disekci krcnich uzlin, adjuvantni radioterapii s nasledn
Autor:
Petr Janoušek, Marcela Malíková, Radka Kremlikova Pourova, O. Bendová, Emanuela Leonardi, Alessandra Murgia, Michal Jurovčík, Dagmar Rašková, Marcela Dvoráková, Pavel Seeman, Zdenek Kabelka, Jaromír Astl
Publikováno v:
Annals of Human Genetics. 74:299-307
Summary Mutations in SLC26A4 cause Pendred syndrome (PS) – hearing loss with goitre – or DFNB4 – non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303
Autor:
Richard J.H. Smith, Alessandra Murgia, István Sziklai, Pierangela Castorina, Małgorzata Mueller-Malesińska, Nele Hilgert, Ewa Nowakowska, Graça Fialho, Alessandro Martini, Erdmute Kunstmann, Ignacio del Castillo, Lut Van Laer, Felipe Moreno, Doris Nekahm-Heis, Cyril Goizet, Carla Nishimura, Guy Van Camp, Elena Mennucci, Agata Skórka, Stephen Vlaeminck, Paul Van de Heyning, Mustafa Tekin, Michael B. Petersen, Ashley Q. Thorburn, Virginia W. Norris, Petr Janoušek, Anne Françoise Roux, Jerzy Bal, Nele Dieltjens, Guenaëlle Lancelot, Delphine Feldmann, Tímea Tóth, Pavel Seeman, Andreas R. Janecke, Eva Orzan, Jaroslaw Waligora, Karianne Hostmark, Matthew J. Huentelman, Klemens Frei, Ingeborg Dhooge, Catherine Blanchet, Paul J. Govaerts, Vasiliki Vivian Iliadou, Erik Fransen, Umberto Ambrosetti, Karen Grønskov, Agnieszka Pollak, Kathleen S. Arnos, Françoise Denoyelle, Paola Primignani, Armagan Incesulu, Ouyang Xiaomei, Rafał Płoski, Sandrine Marlin, Arti Pandya, Xue Zhong Liu, Helena Caria
Publikováno v:
European journal of immunogenetics
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being th
Autor:
Pavel Grabec, Jiří Šnajdauf, Petr Janoušek, Michal Rygl, Zdeněk Kabelka, Petr Lesný, Jaroslav Fajstavr, Michal Jurovčík
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 70:1103-1107
Summary Objective This study examined a cohort of pediatric patients treated for suspected corrosive injury of the oesophagus in the ENT department between 1994 and 2003. Methods During the study period we examined 337 patients. All patients were tre
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 69:1257-1260
Over the past few years, the ENT clinic in Motol has noticed an alarming increase in the number of cases of severe upper GIT injury in children, in the majority of cases caused by accidental ingestion of corrosives. Suicidal and homicidal cases in th
Publikováno v:
Skull Base. 17
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 70:179