Search Results - "Bene, Judit"

Role of carnitine and its derivatives in the development and management of type 2 diabetes by Bene, Judit, Hadzsiev, Kinga, Melegh, Bela

“…Type 2 diabetes is a highly prevalent chronic metabolic disorder characterized by hyperglycemia and associated with several complications such as retinopathy,…”
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Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies by Büki, Gergely, Antal, Gréta, Bene, Judit

“…is a tumor suppressor gene that exerts its effect through the regulation of the Wnt signaling pathway. Loss of function mutations of the gene are associated…”
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Copy Number Variations in Neuropsychiatric Disorders by Büki, Gergely, Hadzsiev, Kinga, Bene, Judit

“…Neuropsychiatric disorders are complex conditions that represent a significant global health burden with complex and multifactorial etiologies. Technological…”
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Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome by Buki, Gergely, Hadzsiev, Kinga, Bene, Judit

“…Marfan syndrome (MFS) is an autosomal dominant multisystem disorder caused by mutations in the fibrillin-1 gene (FBN1). A small portion of them is copy number…”
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Editorial: Copy Number Variation in Rare Disorders by Komlósi, Katalin, Gyenesei, Attila, Bene, Judit

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NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy by Szalai, Renata, Hadzsiev, Kinga, Till, Agnes, Fogarasi, Andras, Bodo, Timea, Buki, Gergely, Banfai, Zsolt, Bene, Judit

“…Developmental and epileptic encephalopathy-9 (DEE9) is characterized by seizure onset in infancy, mild to severe intellectual impairment, and psychiatric…”
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Case Report of Suspected Gonadal Mosaicism in FOXP1 -Related Neurodevelopmental Disorder by Zsigmond, Anna, Till, Ágnes, Bene, Judit, Czakó, Márta, Mikó, Alexandra, Hadzsiev, Kinga

“…Heterozygous mutations in the gene (OMIM#605515) are responsible for a well-characterized neurodevelopmental syndrome known as "intellectual developmental…”
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Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly by Szalai, Renata, Till, Agnes, Gyenesei, Attila, Bene, Judit, Hadzsiev, Kinga

“…Prenatal whole exome sequencing (WES) approaches can provide genetic diagnosis with rapid turnaround time and high diagnostic rate when conventional tests are…”
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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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Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma by Maász, Anita, Bodó, Tímea, Till, Ágnes, Molnár, Gábor, Masszi, György, Labossa, Gusztáv, Herbert, Zsuzsanna, Bene, Judit, Hadzsiev, Kinga

“…Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by seizures, neuropsychiatric disorders, and tumors of the heart, brain, skin, lungs,…”
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Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene by Veres, Klára, Bene, Judit, Hadzsiev, Kinga, Garami, Miklós, Pálla, Sára, Happle, Rudolf, Medvecz, Márta, Szalai, Zsuzsanna Zsófia

“…Plexiform neurofibromas occurring in approximately 20-50% of all neurofibromatosis type-1 (NF1) cases are histologically benign tumors, but they can be fatal…”
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Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods by Baráti, László, Maász, Anita, Mikó, Alexandra, Bércesi, Éva, Kalbani, Sultan Al, Bene, Judit, Kovács, Sebestyén, Mangel, László, Hadzsiev, Kinga

“…Hereditary breast and ovarian cancer is a well-known genetic condition, inherited mainly in an autosomal dominant way, which elevates the risk of developing…”
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Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis by Antal, Gréta, Zsigmond, Anna, Till, Ágnes, Orsi, Eniko, Szanto, Ildiko, Büki, Gergely, Kereskai, László, Herbert, Zsuzsanna, Hadzsiev, Kinga, Bene, Judit

“…Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft and hard tissue tumors…”
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Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report by Pálla, Sára, Anker, Pálma, Farkas, Klára, Plázár, Dóra, Kiss, Sándor, Marschalkó, Péter, Szalai, Zsuzsanna, Bene, Judit, Hadzsiev, Kinga, Maróti, Zoltán, Kalmár, Tibor, Medvecz, Márta

“…Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes,…”
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Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature by Buki, Gergely, Szalai, Renata, Pinter, Adrienn, Hadzsiev, Kinga, Melegh, Bela, Rauch, Tibor, Bene, Judit

“…Background Marfan syndrome (MFS) is a clinically heterogeneous hereditary connective tissue disorder. Severe cardiovascular manifestations (i.e., aortic…”
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Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma by Schrauwen, Isabelle, Melegh, Béla I, Chakchouk, Imen, Acharya, Anushree, Nasir, Abdul, Poston, Alexis, Cornejo-Sanchez, Diana M, Szabo, Zsolt, Karosi, Tamás, Bene, Judit, Melegh, Béla, Leal, Suzanne M

“…Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern…”
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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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Interethnic differences of cytochrome P450 gene polymorphisms may influence outcome of taxane therapy in Roma and Hungarian populations by Szalai, Renata, Ganczer, Alma, Magyari, Lili, Matyas, Petra, Bene, Judit, Melegh, Bela

“…Taxanes are widely used microtubule-stabilizing chemotherapeutic agents in the treatment of cancers. Several cytochrome P450 gene variants have been proven to…”
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Similarities in serum acylcarnitine patterns in type 1 and type 2 diabetes mellitus and in metabolic syndrome by Bene, Judit, Márton, Magdolna, Mohás, Márton, Bagosi, Zoltán, Bujtor, Zoltán, Oroszlán, Tamás, Gasztonyi, Beáta, Wittmann, Istvan, Melegh, Bela

“…In type 1 diabetes (T1D), type 2 diabetes (T2D) and metabolic syndrome (MetS), the associated complex metabolomic changes in the involvement of carnitine…”
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Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn’s disease patients by Veronika Csngei Luca Járomi EnikSáfrány Csilla Sipeky Lili Magyari Bernadett Faragó Judit Bene Noémi Polgár Lilla Lakner Patrícia Sarlós Márta Varga Béla Melegh

“…AIM:To investigate the interaction of interleukin-23 receptor(IL23R)(rs1004819 and rs2201841),autophagy-related 16-like 1(ATG16L1)(rs2241880), caspase…”
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