Search Results - "HADZSIEV, Kinga"

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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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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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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Analysis of Gyimes Csango population samples on a high-resolution genome-wide basis by Bánfai, Zsolt, Büki, Gergely, Ádám, Valerián, Sümegi, Katalin, Szabó, András, Hadzsiev, Kinga, Erős, Krisztián, Gallyas, Ferenc, Miseta, Attila, Kásler, Miklós, Melegh, Béla

“…The Csangos are an East-Central European ethnographic group living mainly in east of Transylvania in Romania. Traditionally, ethnography distinguishes three…”
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Cytochrome P450 Drug Metabolizing Enzymes in Roma Population Samples: Systematic Review of the Literature by Szalai, Renata, Hadzsiev, Kinga, Melegh, Bela

“…The cytochrome P450 drug metabolizing enzymes are highly polymorphic and show inter-individual differences in variability in drug response, which varies widely…”
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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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Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study by Sándor-Bajusz, Kinga Amália, Dergez, Tímea, Molnár, Edit, Hadzsiev, Kinga, Till, Ágnes, Zsigmond, Anna, Vástyán, Attila, Csábi, Györgyi

“…The higher rate of neuropsychiatric disorders in individuals with non-syndromic orofacial clefts has been well documented by previous studies. Our goal was to…”
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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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Complex management of children affected with cleft lip and palate associated with genetic syndromes by Vástyán, Attila, Maros, Teodor Barna, Sándor-Bajusz, Kinga Amália, Vajda, Katalin, Hadzsiev, Kinga

“…Introduction: The majority of facial clefts are isolated developmental anomalies. In a minority of the cases, however, facial clefts may occur as part of…”
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Expanded phenotype of AARS1-related white matter disease by Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E. C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, Husain, Ralf A.

“…Purpose Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-related disorders have identified cases with phenotypic variability from…”
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Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients by Czakó, Márta, Till, Ágnes, Szabó, András, Ripszám, Réka, Melegh, Béla, Hadzsiev, Kinga

“…Among human supernumerary marker chromosomes, the occurrence of isodicentric form of 15 origin is relatively well known due to its high frequency, both in…”
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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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