Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Katalin, Koczok"'
Autor:
László Madar, Viktória Majoros, Zsuzsanna Szűcs, Orsolya Nagy, Tamás Babicz, Henriett Butz, Attila Patócs, István Balogh, Katalin Koczok
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 20, p 15334 (2023)
Hereditary breast cancer is most commonly attributed to germline BRCA1 and BRCA2 gene variants. The vast majority of BRCA1 and BRCA2 mutation carriers are single heterozygotes, and double heterozygosity (DH) is a very rare finding. Here, we describe
Externí odkaz:
https://doaj.org/article/d4a41755114a412b8e008900c748dc41
Autor:
Zsuzsanna Szűcs, Éva Pinti, Irén Haltrich, Orsolya Pálné Szén, Tibor Nagy, Endre Barta, Gábor Méhes, László Bidiga, Olga Török, Anikó Ujfalusi, Katalin Koczok, István Balogh
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13076 (2022)
Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene lo
Externí odkaz:
https://doaj.org/article/c8965ed35a0843a38f54342d72ffd1b7
Autor:
Anna Deák, Katalin Koczok, Beáta Bessenyei, Zsuzsanna Szűcs, László Madar, Gabriella Csorba, Orsolya Orosz, István Laki, Adrien Halász, Géza Marsal, István Balogh
Publikováno v:
Orvosi Hetilap. 163:2052-2059
Bevezetés: A cystás fibrosis (CF) az egyik leggyakoribb monogénes betegség. A genetikai vizsgálat a kóros mutációk kiderítésével a diagnózis felállításához, illetve megerősítéséhez egyre inkább elengedhetetlenné válik. A magyar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fb8f634d2594d6d054fe56c2b1e12e0
https://doi.org/10.1556/650.2022.32655
https://doi.org/10.1556/650.2022.32655
Autor:
Gergely Ivády, László Madar, Erika Dzsudzsák, Katalin Koczok, János Kappelmayer, Veronika Krulisova, Milan Macek, Attila Horváth, István Balogh
Publikováno v:
BMC Genomics, Vol 19, Iss 1, Pp 1-8 (2018)
Abstract Background Current technologies in next-generation sequencing are offering high throughput reads at low costs, but still suffer from various sequencing errors. Although pyro- and ion semiconductor sequencing both have the advantage of delive
Externí odkaz:
https://doaj.org/article/e5bb5bcfae214621a56e72542aa5d7bb
Autor:
Katalin Koczok, László Horváth, Zeljka Korade, Zoltán András Mezei, Gabriella P. Szabó, Ned A. Porter, Eszter Kovács, Károly Mirnics, István Balogh
Publikováno v:
Biomolecules, Vol 11, Iss 8, p 1228 (2021)
Smith-Lemli-Opitz syndrome (SLOS) is a severe monogenic disorder resulting in low cholesterol and high 7-dehydrocholesterol (7-DHC) levels. 7-DHC-derived oxysterols likely contribute to disease pathophysiology, and thus antioxidant treatment might be
Externí odkaz:
https://doaj.org/article/e57d8c15226640629d33181f83162053
Autor:
Zeljka Korade, Thiago C. Genaro-Mattos, Keri A. Tallman, Wei Liu, Krassimira A. Garbett, Katalin Koczok, Istvan Balogh, Karoly Mirnics, Ned A. Porter
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 11, Pp 2139-2146 (2017)
Smith-Lemli-Opitz syndrome is a recessive disorder caused by mutations in 7-dehydrocholesterol reductase (DHCR)7 with a heterozygous (HET) carrier frequency of 1–3%. A defective DHCR7 causes accumulation of 7-dehydrocholesterol (DHC), which is a hi
Externí odkaz:
https://doaj.org/article/fa4381a31948402ab99163f966358465
Publikováno v:
Genes; Volume 13; Issue 11; Pages: 2086
Chromosome abnormalities play a crucial role in reproductive failure. The presence of numerical or structural aberrations may induce recurrent pregnancy loss or primary infertility. The main purpose of our study was to determine the types and frequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::95910c5bee97767c18fa3047764ac1ad
Autor:
Balogh, Zsuzsanna Szűcs, Éva Pinti, Irén Haltrich, Orsolya Pálné Szén, Tibor Nagy, Endre Barta, Gábor Méhes, László Bidiga, Olga Török, Anikó Ujfalusi, Katalin Koczok, István
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 21; Pages: 13076
Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::6b014b1b3f18b13aabbb72e3d342173b
Autor:
Anna, Deák, Katalin, Koczok, Beáta, Bessenyei, Zsuzsanna, Szűcs, László, Madar, Gabriella, Csorba, Orsolya, Orosz, István, Laki, Adrien, Halász, Géza, Marsal, István, Balogh
Publikováno v:
Orvosi hetilap. 163(51)
Cystic fibrosis (CF) is one of the most common monogenic diseases. Genetic testing is becoming increasingly reasoned to establish or confirm the diagnosis by detecting abnormal mutations.In order to develop a diagnostic strategy for cystic fibrosis a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6da037ce0c8d9bf3ea4c669a1805778b
https://pubmed.ncbi.nlm.nih.gov/36528828
https://pubmed.ncbi.nlm.nih.gov/36528828
Publikováno v:
Genes. 13(11)
Chromosome abnormalities play a crucial role in reproductive failure. The presence of numerical or structural aberrations may induce recurrent pregnancy loss or primary infertility. The main purpose of our study was to determine the types and frequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c0cd94e3cd35804ebddb3175bc6555c0
https://pubmed.ncbi.nlm.nih.gov/36360324
https://pubmed.ncbi.nlm.nih.gov/36360324