tallózása szerző szerint "Németh, Krisztina"

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A Fabry-betegség tünettana

Constantin, Tamás; Székely A; Ponyi, Andrea; Németh, Krisztina; Erdős, Melinda; Maródi, László; Fekete, György; Budapesti Fabry Munkacsoport; Debreceni Fabry Munkacsoport (2011)
A Los Angeles és Duarte galaktóz-1-foszfát-uridil-transzferáz-variánsok allélgyakorisága a magyar populációban

Milánkovics, Ilona; Schuler A; Németh, Krisztina; Somogyi C; Fekete, György (2009)

Classical galactosaemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase (GALT), which can be detected by newborn screening. The p.N314D ...
Erratum to: 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)
Fabry-betegség – diagnosztikai útmutató

Kovács, Árpád Ferenc; Ponyi, Andrea; Constantin, Tamás; Kovács, Gábor; Németh, Krisztina; Varga, Edit; Lengyel, Anna; Pinti, Éva; Horváth, Zsuzsanna; Bereczki, Dániel; Kádár, Krisztina; Medvecz, Márta; Anker, Pálma; Erdõs, Melinda; Molnár, Mária Judit; Müller, Veronika; Seres, Éva; Müllner, Katalin; Széchey, Rita; Vastagh, Ildikó; Reismann, Péter; Gyimesi, Tamás; Nyolczas, Noémi; Noszek, László; Hadzsiev, Kinga; Faludi, Réka; Wittmann, István; Takács, Hedvig; Sepp, Róbert; Maródi, László; Fekete, György (2021)

Az X-kromoszómához kötötten öröklõdõ Fabry-betegség a galaktozidáz-a gén betegségokozó variációinak következtében létrejövõ a-galaktozidáz-A enzim instabilitása, csökkent biológiai aktivitása vagy hiánya miatt kialakuló ...
Fabry-betegség – terápiás útmutató

Constantin, Tamás; Székely A; Ponyi, Andrea; Gulácsy V; Ambrus, Csaba; Kádár K; Vastagh, Ildikó; Dajnoki A; Tóth B; Bokrétás G; Müller, Veronika; Katona M; Medvecz, Márta; Fiedler O; Széchey R; Varga, Edit; Rudas, Gábor; Kertész, Attila Béla; Molnár S; Kárpáti, Sarolta; Nagy V; Magyar, Pál; Mahdi, Mohamed; Rákóczi, Éva; Németh, Krisztina; Bereczki, Dániel; Garami, Miklós; Erdős, Melinda; Maródi L; Fekete, György (2010)
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population

Milánkovics, Ilona; Németh, Krisztina; Somogyi C; Schuler A; Fekete, György (2010)

Biotinidase deficiency, an autosomal recessively inherited disorder, is characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. In Hungary the national screening programme was launched ...
Identification of an NF1 Microdeletion with Optical Genome Mapping

Büki, Gergely; Bekő, Anna; Bödör, Csaba; Urbán, Péter; Németh, Krisztina; Hadzsiev, Kinga; Fekete, György; Kehrer-Sawatzki, Hildegard; Bene, Judit (2023)

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5–10% of the cases are caused by NF1 microdeletions involving the NF1 gene and its ...
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary

Milánkovics, Ilona; Schuler A; Kamory E; Csokay B; Fodor F; Somogyi C; Németh, Krisztina; Fekete, György (2010)

BACKGROUND: Classic galactosemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase. The disorder can be detected by newborn screening and in ...
Multiple splice variants of EWSR1-ETS fusion transcripts co-existing in the Ewing sarcoma family of tumors.

Zentainé Patócs, Barbara; Németh, Krisztina; Garami, Miklós; Arató, Gabriella; Kovalszky, Ilona; Szendrői, Miklós; Fekete, György (2013)

PURPOSE: The Ewing sarcoma family of tumors (EFT) is characterized by fusions of the EWSR1 gene on chromosome 22q12 with either one of the genes encoding members of the ETS family of transcription factors, in the majority ...
Nanofiber formation as a promising technology for preservation and easy storage of extracellular vesicles

Németh, Krisztina; Kazsoki, Adrienn; Visnovitz, Tamás; Pinke, Balázs; Mészáros, László; Buzás, Edit I.; Zelkó, Romána (2022)

Extracellular vesicles (EVs) are cell-derived, membrane-enclosed particles with the potential for a wide range of future therapeutic applications. However, EVs have almost always been administered by direct injection, ...
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 ...
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)
Some GCR Polymorphisms (N363S, ER22/23EK, and Bcl-1) May Influence Steroid-induced Toxicities and Survival Rates in Children With ALL.

Eipel, Olivér; Hegyi, Márta; Csordas, Katalin; Németh, Krisztina; Luczay, Andrea; Török, Dóra; Csóka, Monika; Erdélyi, Dániel; Kovács, Gábor (2016)

We investigated whether an altered individual glucocorticoid sensitivity due to particular glucocorticoid receptor single-nucleotide polymorphisms (SNPs) (N363S, ER22/23EK, and Bcl-1) influences the susceptibility to ...
Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka

Doleschall, Márton; Török, Dóra; Mészáros, Katalin; Luczay, Andrea; Halász, Zita; Németh, Krisztina; Szücs, Nikolette; Kiss, Róbert; Tőke, Judit; Sólyom, János; Fekete, György; Patócs, Attila Balázs; Igaz, Péter; Tóth, Miklós (2018)

Abstract: Congenital adrenal hyperplasia is a group of genetic diseases due to the disablement of 7 genes; one of them is steroid 21-hydroxylase deficiency. The genes of congenital adrenal hyperplasia encode enzymes taking ...
The 8.1 ancestral MHC haplotype is associated with delayed onset of colonization in cystic fibrosis

Laki J; Laki I; Németh, Krisztina; Ujhelyi, Rita; Bede, Olga; Börcsökné Endreffy, Emőke; Bolbas K; Gyurkovits K; Csiszer E; Sólyom, Enikő; Dobra G; Halasz A; Pozsonyi E; Rajczy K; Prohászka, Zoltán; Fekete, György; Füst, György (2006)
The glucocorticoid receptor gene polymorphism N363S predisposes to more severe toxic side effects during pediatric acute lymphoblastic leukemia (ALL) therapy.

Eipel, Olivér; Németh, Krisztina; Török, Dóra; Csordas, Katalin; Hegyi, Márta; Ponyi, Andrea; Ferenczy, A; Erdélyi, Dániel; Csóka, Monika; Kovács, Gábor (2013)

The survival rates in childhood acute lymphoid leukemia (ALL) have improved dramatically; however, patients still suffer from a variety of drug-related toxicities. Individualized therapy regimens promise the least toxic ...
The prevalence deltaF-508 in primary osteoporotic patients

Treszl, András; Németh, Krisztina; Kocsis, István; Vásárhelyi, Barna; Fekete, György; Tulassay, Tivadar; Szathmári, Miklós (2005)
Toxic encephalopathy and delayed MTX clearance after high-dose methotrexate therapy in a child homozygous for the MTHFR C677T polymorphism.

Müller, Judit; Kralovánszky, Judit; Adleff V; Pap E; Németh, Krisztina; Komlósi, Lajos Viktor; Kovács, Gábor (2008)

BACKGROUND: High-dose methotrexate (HD-MTX) is one of the most important agents in the therapy of osteosarcoma (OSC). Acute and delayed toxicities still constitute clinical problems. Methylenetetrahydrofolate reductase ...
Utilisation of fluorescent multiplex PCR and laser-induced capillary electrophoresis for the diagnosis of Ewing family of tumours in formalin-fixed paraffin-embedded tissues.

Zentainé Patócs, Barbara; Németh, Krisztina; Garami, Miklós; Arató, Gabriella; Kovalszky, Ilona; Szendrői, Miklós; Fekete, György (2012)

AIMS: The localisation of the translocation breakpoint of the Ewing sarcoma family of tumours shows significant variability on relatively large regions of fusion partner genes. As a consequence, many alternative forms of ...
Variation in a repeat sequence determines wheter a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

Groman JD; Hefferon TW; Casals T; Bassas L; Estivill X; Des Georges M; Koudova M; Fallin MD; Németh, Krisztina; Fekete, György; Kádasi, Lajos; Friedman K; Schwarz M; Bombieri C; Pignatti GF; Kanavakis E; Tzetis M; Schwartz M; Novelli G; D Apice MR; Sobczynska-Tomaszewska A; Bal J; Stuhrmann M; Macek M Jr; Claustres M; Cutting GR (2004)

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