Zobrazeno 1 - 10
of 130
pro vyhledávání: '"Nikoletta Nagy"'
Autor:
Nikoletta Nagy, Margit Pál, Dóra Nagy, Barbara Anna Bokor, Aliz Zimmermann, Balázs Gellén, András Salamon, László Sztriha, Péter Klivényi, Márta Széll
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Purpose We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, shor
Externí odkaz:
https://doaj.org/article/2fa6a6030cb549df98fe6b6d34be0b54
Autor:
Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó, Márta Széll
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 7, Pp 5293-5304 (2023)
Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, k
Externí odkaz:
https://doaj.org/article/f0a534224e3742919de313dd11bcbc53
Publikováno v:
Különleges Bánásmód, Vol 7, Iss 2 (2021)
A család mint elsődleges szocializációs színtér szerepe egész életünk során jelentős. A hozott kulturális tőke, a szülői minták, a testvérkapcsolatok egyaránt kiemelkedő hatással bírnak a tanulmányi és nem-tanulmányi eredmény
Externí odkaz:
https://doaj.org/article/ddcc9eaaa1bf42b99eac29d021003c42
Autor:
Éva Dávid, Dóra Török, Katalin Farkas, Nikoletta Nagy, Emese Horváth, Zsuzsanna Kiss, György Oroszlán, Márta Balogh, Márta Széll
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-4 (2019)
Abstract Background Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC2
Externí odkaz:
https://doaj.org/article/c6938e8e1fa34928afb5065d8f5038e5
Publikováno v:
Dermatologica Sinica, Vol 36, Iss 2, Pp 89-92 (2018)
Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene. Here we report a Hungarian pedigree affected by the lamellar icht
Externí odkaz:
https://doaj.org/article/ac443700172d491a9dda6f53da53a319
Autor:
Pálma Anker, Norbert Kiss, István Kocsis, Éva Czemmel, Krisztina Becker, Sára Zakariás, Dóra Plázár, Klára Farkas, Balázs Mayer, Nikoletta Nagy, Márta Széll, Nándor Ács, Zsuzsanna Szalai, Márta Medvecz
Publikováno v:
Life, Vol 11, Iss 7, p 624 (2021)
Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma. The clinical outcome after this severe condition is variable.
Externí odkaz:
https://doaj.org/article/bcc1326cb5a44ea7b20651ae08bfd1f6
Autor:
Beáta Fábos, Katalin Farkas, Lola Tóth, Adrienn Sulák, Kornélia Tripolszki, Mariann Tihanyi, Réka Németh, Krisztina Vas, Zsanett Csoma, Lajos Kemény, Márta Széll, Nikoletta Nagy
Publikováno v:
European Journal of Medical Research, Vol 22, Iss 1, Pp 1-8 (2017)
Abstract Background Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24
Externí odkaz:
https://doaj.org/article/bb51dfc20d624efebb356ce4b7cc9918
Autor:
Eszter Baltás, Erika Kis, Nikoletta Nagy, Nicolette Sohár, Erika Varga, Márta Széll, Lajos Kemény, Judit Oláh
Publikováno v:
Acta Dermato-Venereologica, Vol 97, Iss 8, Pp 962-964 (2017)
Externí odkaz:
https://doaj.org/article/d782e3f4930646c1ac02878ea69c2d05
Autor:
Judit Danis, Anikó Göblös, Brigitta Gál, Adrienn Sulák, Katalin Farkas, Dóra Török, Erika Varga, Irma Korom, Lajos Kemény, Márta Széll, Zsuzsanna Bata-Csörgö, Nikoletta Nagy
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
Pityriasis rubra pilaris (PRP) is a rare papulosquamous skin disorder, which is phenotypically related to psoriasis. Some familial PRP cases show autosomal dominant inheritance due to CARD14 mutations leading to increased nuclear factor κB (NFκB) a
Externí odkaz:
https://doaj.org/article/ecc0e271bce743ad9ad5293121fc3a59
Autor:
Sándor Márki, Anikó Göblös, Eszter Szlávicz, Nóra Török, Péter Balicza, Benjamin Bereznai, Annamária Takáts, József Engelhardt, Péter Klivényi, László Vécsei, Mária Judit Molnár, Nikoletta Nagy, Márta Széll
Publikováno v:
Parkinson's Disease, Vol 2018 (2018)
Parkinson’s disease (PD) is a common neurodegenerative disorder characterized by bradykinesia, resting tremor, and muscle rigidity. To date, approximately 50 genes have been implicated in PD pathogenesis, including both Mendelian genes with rare mu
Externí odkaz:
https://doaj.org/article/3b02571593bc44f7a52e03b3feeefaa5