Folyóiratcikkek tallózása szerző szerint "SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika"

A találatok rendezése: Rendezés: Találatok:

  • Neutropeniás gyermekek leggyakoribb fertőzései és a kezelés lehetőségei 
    Müller, Judit; Kovács, Gábor; Schmidt, Marianne; Fekete, György (2000)
  • Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry 
    Dajnoki A; Fekete, György; Keutzer J; Orsini JJ; De Jesus VR; Chien YH; Hwu WL; Lukacs Z; Muhl A; Zhang XK; Bodamer O (2010)
    BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A (GLA). We evaluated a tandem mass spectrometry method to measure GLA activity. METHODS: One 3.2mm ...
  • Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. 
    Dajnoki A; Muhl A; Fekete, György; Keutzer J; Orsini J; Dejesus V; Zhang XK; Bodamer OA (2008)
    BACKGROUND: Pompe disease, caused by the deficiency of acid alpha-glucosidase (GAA), is a lysosomal storage disorder that manifests itself in its most severe form within the first months of life. Early detection by newborn ...
  • No decrease of 1,25(OH)2D3 receptors and duodenal calbindin-D9k in uraemic rats. 
    Szabó, András; Merke J; Thomasset M; Ritz E (1991)
    In parathyroids of uraemic patients or animals, decreased specific binding of 1,25(OH)2D3 has been observed and implicated in the genesis of secondary hyperparathyroidism of renal failure. We re-examined binding of 1,25(OH)2D3 ...
  • Non-anaplastic peripheral T cell lymphoma in children and adolescents-an international review of 143 cases 
    Mellgren K; Attarbaschi A; Abla O; Alexander S; Bomken S; Chiang A; Csóka, Monika; Fedorova A; Kabickova E; Kapuscinska-Kemblowska L; Kobayashi R; Krenova Z; Meyer-Wentrup F; Miakova N; Pillon M; Plat G; Uyttebroeck A; Williams D; Wrobel G; Kontny U; European Intergroup for Childhood Non-Hodgkin Lymphoma (EICNHL) and the international Berlin-Frankfurt-Münster (i-BFM) Group (2016)
    Peripheral T cell lymphomas (PTCL) are rare in children and adolescents, and data about outcome and treatment results are scarce. The present study is a joint, international, retrospective analysis of 143 reported cases ...
  • Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents 
    Attarbaschi A; Carraro E; Abla O; Barzilai-Birenboim S; Bomken S; Brugieres L; Bubanska E; Burkhardt B; Chiang AK; Csóka, Monika; Fedorova A; Jazbec J; Kabickova E; Krenova Z; Lazic J; Loeffen J; Mann G; Niggli F; Miakova N; Osumi T; Ronceray L; Uyttebroeck A; Williams D; Woessmann W; Wrobel G; Pillon M; European Intergroup for Childhood Non-Hodgkin Lymphoma (EICNHL); The International Berlin-Frankfur t-Münster (i-BFM) Study Group; The International Berlin-Frankfur t-Münster (i-BFM) Study Group; The International Berlin-Frankfur t-Münster (i-BFM) Study Group (2016)
    Children and adolescents with pre-existing conditions such as DNA repair defects or other primary immunodeficiencies have an increased risk of non-Hodgkin lymphoma. However, large-scale data on patients with non-Hodgkin ...
  • Non-random aneuploidy specifies subgroups of pilocytic astrocytoma and correlates with older age 
    Fontebasso AM; Shirinian M; Khuong-Quang DA; Bechet D; Gayden T; Kool M; De Jay N; Jacob K; Gerges N; Hutter B; Seker-Cin H; Witt H; Montpetit A; Brunet S; Lepage P; Bourret G; Klekner, Álmos; Bognar L; Hauser, Péter; Garami, Miklós; Farmer JP; Montes JL; Atkinson J; Lambert S; Kwan T; Korshunov A; Tabori U; Collins VP; Albrecht S; Faury D; Pfister SM; Paulus W; Hasselblatt M; Jones DT; Jabado N (2015)
    Pilocytic astrocytoma (PA) is the most common brain tumor in children but is rare in adults, and hence poorly studied in this age group. We investigated 222 PA and report increased aneuploidy in older patients. Aneuploid ...
  • Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA^^Ser(UCN)^^^ and Review of Published Cases 
    Halmainé Komlósi, Katalin; Maász, Anita; Kisfali, Péter; Hadzsiev, Kinga; Bene, Judit; Melegh, Béla Imre; Ablonczy, Mária; Németh, Krisztina; Fekete, György; Melegh, Béla (2013)
    The m.7510T>C mitochondrial DNA (mtDNA) mutation is a tRNA(Ser(UCN)) alteration leading to matrilineal isolated hearing impairment. The current paper reviews the available reports on the m.7510T>C mtDNA mutation, with ...
  • Normal karyotype is a poor prognostic factor in Myeloid Leukemia of Down Syndrome: a retrospective international study 
    Blink M; Zimmermann M; Neuhoff CV; Reinhardt D; de Haas V; Hasle H; O'Brien MM; Stark B; Tandonnet J; Pession A; Tousovska K; Cheuk DK; Kudo K; Taga T; Rubnitz JE; Haltrich, Irén; Balwierz W; Pieters R; Forestier E; Johansson B; van den Heuvel-Eibrink MM; Zwaan CM (2014)
    Myeloid leukemia of Down Syndrome has a better prognosis than sporadic pediatric acute myeloid leukemia. Most myeloid leukemia of Down syndrome cases are characterized by additional cytogenetic changes besides the ...
  • Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease 
    Erdős, Melinda; Németh, Krisztina; Tóth, Beáta; Constantin, Tamás; Rákóczi, Éva; Ponyi, Andrea; Dajnoki A; Grubits J; Pintér I; Garzuly F; Hahn K; Bencsik, Krisztina; Vécsei L; Fekete, György; Maródi, László (2008)
  • NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features 
    Sachwitz J; Meyer R; Fekete, György; Spranger S; Matuleviciene A; Kucinskas V; Bach A; Luczay, Andrea; Bruchle NO; Eggermann K; Zerres K; Elbracht M; Eggermann T (2017)
    Silver-Russell syndrome (SRS) is a growth retardation syndrome characterized by intrauterine and postnatal growth retardation, relative macrocephaly and protruding forehead, body asymmetry and feeding difficulties. Nearly ...
  • Nyirokcsomó-megnagyobbodás – mikor kell malignitásra gondolni? 
    Erdélyi, Dániel; Müller, Judit; Kovács, Gábor (2015)
  • Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis 
    Giancane, Gabriella; Swart, Joost F; Castagnola, Elio; Groll, Andreas H; Horneff, Gerd; Huppertz, Hans-Iko; Lovell, Daniel J; Wolfs, Tom; Herlin, Troels; Dolezalova, Pavla; Sanner, Helga; Susic, Gordana; Sztajnbok, Flavio; Maritsi, Despoina; Constantin, Tamás; Vargova, Veronika; Sawhney, Sujata; Rygg, Marite; K Oliveira, Sheila; Cattalini, Marco; Bovis, Francesca; Bagnasco, Francesca; Pistorio, Angela; Martini, Alberto; Wulffraat, Nico; Ruperto, Nicolino; Cuttica, Ruben; Garay, Stella Maris; Brunner, Jurgen; Emminger, Wolfgang; Appenzeller, Simone; Len, Claudio; Saad Magalhaes, Claudia; Telcharova-Mihaylovska, Albena; Harjacek, Miroslav; Jelusic, Marija; Estmann, Anne; Nielsen, Susan; Herrera Mora, Cristina; Gervais, Elisabeth; Koné-Paut, Isabelle; Quartier, Pierre; Foeldvari, Ivan; Horneff, Gerd; Lutz, Thomas; Minden, Kirsten; Tzaribachev, Nikolay; Trachana, Maria; Tsitsami, Elena; Vougiouka, Olga; Orban, Ilonka; Harel, Liora; Hashkes, Philip; Uziel, Yosef; Cimaz, Rolando; Civino, Adele; Consolini, Rita; D'Angelo, Gianfranco; De Benedetti, Fabrizio; Filocamo, Giovanni; Fueri, Elena; Gallizzi, Romina; Maggio, Maria Cristina; Magnolia, Maria Greca; Miniaci, Angela; Montin, Davide; Olivieri, Alma Nunzia; Pastore, Serena; Rigante, Donato; Zulian, Francesco; Rumba-Rozenfelde, Ingrida; Stanevicha, Valda; Panaviene, Violeta; Rodriguez Lozano, Ana Luisa; Rubio-Perez, Nadina; Vega Cornejo, Gabriel; Hoppenreijs, Esther; Kamphuis, Sylvia; Flato, Berit; Nordal, Ellen Berit; Abdwani, Reem; Miraval, Tatiana; Paz Gastanaga, Maria Eliana; Smolewska, Elzbieta; Ailioaie, Constantin; Cochino, Alexis-Virgil; Laday, Matilda; Lazar, Calin; Alexeeva, Ekaterina; Chasnyk, Vyacheslav; Keltsev, Vladimir; Suwairi, Wafaa Mohammed Saad; Vijatov-Djuric, Gordana; Vojinovic, Jelena; Arkachaisri, Thaschawee; Koskova, Elena; Avcin, Tadej; Ally, Mahmood; Van Rensburg, Christa Janse; Louw, Ingrid; Lopez, Jordi Anton; Boteanu, Alina Lucica; Calvo Penades, Inmaculada; De Inocencio, Jaime; Mesa-Del-Castillo, Pablo; Moreno, Estefania; Remesal, Agustin; Hofer, Michael; Gok, Faysal; Ozen, Seza; Ramanan, Athimalaipet; Pallotti, Chiara; Villa, Luca (2020)
    To derive a list of opportunistic infections (OI) through the analysis of the juvenile idiopathic arthritis (JIA) patients in the Pharmachild registry by an independent Safety Adjudication Committee (SAC).The SAC (3 pediatric ...
  • Opposite prognostic roles of HIF1alpha and HIF2alpha expressions in bone metastatic clear cell renal cell cancer. 
    Szendrői, Attila; Szász, Attila Marcell; Kardos, Magdolna; Tőkés, Anna-Mária; Idan R; Szűcs, Miklós; Kulka, Janina; Nyirády, Péter; Szendrői, Miklós; Szallasi Z; Győrffy, Balázs; Tímár, József (2016)
    BACKGROUND: Prognostic markers of bone metastatic clear cell renal cell cancer (ccRCC) are poorly established. We tested prognostic value of HIF1alpha/HIF2alpha and their selected target genes in primary tumors and ...
  • Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases 
    Sallai, Ágnes; Hosszú, Éva; Gergics, Péter; Rácz, Károly; Fekete, György (2008)
    Multiple endocrine neoplasia syndromes (MEN) are genetic disorders with glandular hyperplasia and consecutive malignant neoplasia. MEN type 2B is the least common form of these tumor syndromes. It presents with typical ...
  • Paediatric care in Hungary 
    Schuler, Dezső (1992)
  • Palonosetron compared with ondansetron in pediatric cancer patients: multicycle analysis of a randomized Phase III study 
    Kovács, Gábor; Wachtel A; Basharova E; Spinelli T; Nicolas P; Kabickova E (2017)
    Aim: To investigate across multiple cycles the efficacy and safety of palonosetron in the prevention of chemotherapy-induced nausea and vomiting in pediatric cancer patients receiving highly or moderately emetogenic ...
  • Palonosetron versus ondansetron for prevention of chemotherapy-induced nausea and vomiting in paediatric patients with cancer receiving moderately or highly emetogenic chemotherapy: a randomised, phase 3, double-blind, double-dummy, non-inferiority study. 
    Kovács, Gábor; Wachtel AE; Basharova EV; Spinelli T; Nicolas P; Kabickova E (2016)
    BACKGROUND: Palonosetron has shown efficacy in the prevention of chemotherapy-induced nausea and vomiting in adults undergoing moderately or highly emetogenic chemotherapy. We assessed the efficacy and safety of palonosetron ...
  • Paraneoplastic myopathy 
    Dankó, Katalin; Ponyi, Andrea; Molnar AP; András, Csilla; Constantin, Tamás (2009)
    PURPOSE OF REVIEW: It has been recognized for some time now, that compared with the normal population, patients with idiopathic inflammatory myopathies (IIM) live with an increased risk of developing malignancy. In the ...
  • Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome 
    McElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G. G.; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C.; Shcherbak, Yuliya; Leger, Juliane; Sallai, Ágnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S.; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; Globa, Evgenia; Brauner, Raja; Jauch, Ralf; Nef, Serge; Greenfield, Andy; Bashamboo, Anu (2020)