Search Results - "Fekete, György"

Pharmacokinetics, pharmacodynamics, and safety of moss‐aGalactosidase A in patients with Fabry disease by Hennermann, Julia B., Arash‐Kaps, Laila, Fekete, György, Schaaf, Andreas, Busch, Andreas, Frischmuth, Thomas

“…Moss‐aGalactosidase A (moss‐aGal) is a moss‐derived version of human α‐galactosidase developed for enzyme replacement therapy in patients with Fabry disease…”
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Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important by Eggermann, Thomas, Brück, Johanna, Knopp, Cordula, Fekete, György, Kratz, Christian, Tasic, Velibor, Kurth, Ingo, Elbracht, Miriam, Eggermann, Katja, Begemann, Matthias

“…Molecular diagnostic testing of the 11p15.5-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging due to the…”
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Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management by Meyer, Robert, Soellner, Lukas, MS, Begemann, Matthias, PhD, Dicks, Severin, BS, Fekete, György, MD, Rahner, Nils, MD, Zerres, Klaus, MD, Elbracht, Miriam, MD, Eggermann, Thomas, PhD

“…Objective To investigate the contribution of differential diagnoses to the mutation spectrum of patients referred for Silver-Russell syndrome (SRS) testing…”
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Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level by Fekete, Nóra, Li, Luca Kamilla, Kozma, Gergely Tibor, Fekete, György, Pállinger, Éva, Kovács, Árpád Ferenc

“…Fabry disease is a progressive, X chromosome-linked lysosomal storage disorder with multiple organ dysfunction. Due to the absence or reduced activity of…”
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Analysis of Fuel Alternative Products Obtained by the Pyrolysis of Diverse Types of Plastic Materials Isolated from a Dumpsite Origin in Pakistan by Javed, Nuzhat, Muhammad, Sana, Iram, Shazia, Ramay, Muhammad Wajahat, Jaffri, Shaan Bibi, Damak, Mariem, Fekete, György, Varga, Zsolt, Székács, András, Aleksza, László

“…The current energy crisis and waste management problems have compelled people to find alternatives to conventional non-renewable fuels and utilize waste to…”
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Evaluation of Organic Wastes as Substrates for Rearing Zophobas morio, Tenebrio molitor, and Acheta domesticus Larvae as Alternative Feed Supplements by Harsányi, Endre, Juhász, Csaba, Kovács, Elza, Huzsvai, László, Pintér, Richárd, Fekete, György, Varga, Zsolt István, Aleksza, László, Gyuricza, Csaba

“…Studies have focused on identifying combinations of insects and organic waste to optimise bio-conversion. Here, the effects of different diets (10% chicken…”
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Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions by Büki, Gergely, Zsigmond, Anna, Czakó, Márta, Szalai, Renáta, Antal, Gréta, Farkas, Viktor, Fekete, György, Nagy, Dóra, Széll, Márta, Tihanyi, Marianna, Melegh, Béla, Hadzsiev, Kinga, Bene, Judit

“…Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations in NF1…”
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Identification of an NF1 Microdeletion with Optical Genome Mapping by Büki, Gergely, Bekő, Anna, Bödör, Csaba, Urbán, Péter, Németh, Krisztina, Hadzsiev, Kinga, Fekete, György, Kehrer-Sawatzki, Hildegard, Bene, Judit

“…Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5–10% of the cases…”
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Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort by Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Kristóf, Árvai, Abonyi, Tünde, Némethi, Zaránd, Fekete, György, Haltrich, Irén

“…Abstract Background Neurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy…”
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Biomethane Potential in Anaerobic Biodegradation of Commercial Bioplastic Materials by Üveges, Zsuzsanna, Damak, Mariem, Klátyik, Szandra, Ramay, Muhammad Wajahat, Fekete, György, Varga, Zsolt, Gyuricza, Csaba, Székács, András, Aleksza, László

“…Bioplastics have emerged as a promising alternative to conventional plastics, marketed as environmentally friendly and sustainable materials. They provide a…”
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Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome by Eßinger, Carla, Karch, Stephanie, Moog, Ute, Fekete, György, Lengyel, Anna, Pinti, Eva, Eggermann, Thomas, Begemann, Matthias

“…Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by disturbances of the chromosomal region 11p15.5. The most frequent molecular finding in…”
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Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics by Kovács, Árpád Ferenc, Némethi, Zaránd, Abonyi, Tünde, Fekete, György, Kovács, Gábor T

“…There is a deep need to navigate within our genomic data to find, understand and pave the way for disease-specific treatments, as the clinical diagnostic…”
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Chromosome 2q14.3 microdeletion encompassing CNTNAP5 gene in a patient carrying a complex chromosomal rearrangement by Lengyel, Anna, Pinti, Éva, Nebral, Karin, Pikó, Henriett, Ujfalusi, Anikó, Haas, Oskar A., Fekete, György, Haltrich, Irén

“…We report a patient with loss of chromosome region 2q14.3 encompassing exon 1 of the gene CNTNAP5 . The deletion occurred in association with a de novo complex…”
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A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging by Anker, Pálma, Fésűs, Luca, Kiss, Norbert, Lengyel, Anna, Pinti, Éva, Lihacova, Ilze, Lihachev, Alexey, Plorina, Emilija Vija, Fekete, György, Medvecz, Márta

“…Fabry disease (FD) is a multisystemic X-linked lysosomal storage disease that presents with angiokeratomas (AKs). Our objective was to investigate the clinical…”
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Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations by Beke, Artur, Piko, Henriett, Haltrich, Iren, Karcagi, Veronika, Rigo, Jr, Janos, Molnar, Maria Judit, Fekete, György

“…Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to…”
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Effects of Combined Application of Solid Pyrolysis Products and Digestate on Selected Soil Properties of Arenosol and Plant Growth and Composition in Laboratory Experiments by Gulyás, Miklós, Someus, Edward, Klátyik, Szandra, Fuchs, Márta, Varga, Zsolt István, Dér, Sándor, Fekete, György, Czinkota, Imre, Székács, András, Gyuricza, Csaba, Aleksza, László

“…Biochars as soil amendments have been reported to improve soil properties and may have an important role in the mitigation of the consequences of climate…”
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FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies by Madar, László, Szakszon, Katalin, Pfliegler, György, Szabó, Gabriella P., Brúgós, Boglárka, Ronen, Natali, Papp, Judit, Zahuczky, Katalin, Szakos, Erzsébet, Fekete, György, Oláh, Éva, Koczok, Katalin, Balogh, István

“…•FBN1 gene testing in individuals with Marfan syndrome and other fibrillinopathies.•Identification of novel and recurrent causal and potentially causal FBN1…”
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Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes by Sachwitz, Jana, Strobl-Wildemann, Getrud, Fekete, György, Ambrozaitytė, Laima, Kučinskas, Vaidutis, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas

“…Silver-Russell syndrome (SRS) is a growth retardation disorder with a very broad molecular and clinical spectrum. Whereas the association of SRS with…”
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Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes by Baba, Naomi, Lengyel, Anna, Pinti, Eva, Yapici, Elzem, Schreyer, Isolde, Liehr, Thomas, Fekete, György, Eggermann, Thomas

“…Silver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, body…”
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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach by Bilo, Larissa, Ochoa, Eguzkine, Lee, Sunwoo, Dey, Daniela, Kurth, Ingo, Kraft, Florian, Rodger, Fay, Docquier, France, Toribio, Ana, Bottolo, Leonardo, Binder, Gerhard, Fekete, György, Elbracht, Miriam, Maher, Eamonn R, Begemann, Matthias, Eggermann, Thomas

“…Imprinting disorders (ImpDis) comprise diseases which are caused by aberrant regulation of monoallelically and parent-of-origin-dependent expressed genes. A…”
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