Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Anett Illés"'
Autor:
Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos, Artúr Beke
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)
Abstract Background Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic background of it. The ai
Externí odkaz:
https://doaj.org/article/4ee8a2da1a004b8b82a501789458b08b
Autor:
Anett Illés, Henriett Pikó, Virág Bartek, Olívia Szepesi, Gábor Rudas, Zsófia Benkő, Ágnes Harmath, János Pál Kósa, Artúr Beke
Publikováno v:
Children, Vol 11, Iss 7, p 861 (2024)
Distal arthrogryposis (DA) is a skeletal muscle disorder that is characterized by the presence of joint contractures in various parts of the body, particularly in the distal extremities. In this study, after a systematic review of the literature, we
Externí odkaz:
https://doaj.org/article/5963665f26164141a49cecf9f12973cb
Autor:
Dóra Zsuszanna Tordai, Noémi Hajdú, Ramóna Rácz, Ildikó Istenes, Magdolna Békeffy, Orsolya Erzsébet Vági, Miklós Kempler, Anna Erzsébet Körei, Bálint Tóbiás, Anett Illés, Henriett Pikó, János Pál Kósa, Kristóf Árvai, Márton Papp, Péter András Lakatos, Péter Kempler, Zsuzsanna Putz
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 3, p 1815 (2024)
Neuropathy is a serious and frequent complication of type 2 diabetes (T2DM). This study was carried out to search for genetic factors associated with the development of diabetic neuropathy by whole exome sequencing. For this study, 24 patients with l
Externí odkaz:
https://doaj.org/article/1deefea53ddb4eb99632092f8521207b
Autor:
Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos, Maria Judit Molnar
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with T
Externí odkaz:
https://doaj.org/article/0f41d217ac4d4e3f8b03e2c1013c0cd7
Autor:
Anett Illés, Péter Balicza, Viktor Molnár, Renáta Bencsik, István Szilvási, Maria Judit Molnar
Publikováno v:
BMC Neurology, Vol 19, Iss 1, Pp 1-6 (2019)
Abstract Background Parkinsonism is a complex multifactorial neurodegenerative disorder, in which genetic and environmental risk factors may both play a role. Among environmental risk factors cocaine was earlier ambiguously linked to Parkinsonism. Fo
Externí odkaz:
https://doaj.org/article/63ca7420bd344f658fc8ab9dab9ed76d
Autor:
Dóra Melicher, Anett Illés, Levente Littvay, Ádám Domonkos Tárnoki, Dávid László Tárnoki, András Bikov, László Kunos, Dóra Csabán, Edit Irén Buzás, Mária Judit Molnár, András Falus
Publikováno v:
Archives of Medical Science, Vol 17, Iss 5, Pp 1191-1999 (2019)
Introduction Recent experimental and population studies have highlighted the existence of telomere-mitochondria interplay. Besides studies revealing the molecular mechanisms underlying the associations of telomere defects and mitochondrial functions,
Externí odkaz:
https://doaj.org/article/734c517e147f43b8887f54e90fa1b958
Autor:
Noémi Ágnes Varga, Klára Pentelényi, Péter Balicza, András Gézsi, Viktória Reményi, Vivien Hársfalvi, Renáta Bencsik, Anett Illés, Csilla Prekop, Mária Judit Molnár
Publikováno v:
Behavioral and Brain Functions, Vol 14, Iss 1, Pp 1-14 (2018)
Abstract Background The etiology of autism spectrum disorders (ASD) is very heterogeneous. Mitochondrial dysfunction has been described in ASD; however, primary mitochondrial disease has been genetically proven in a small subset of patients. The main
Externí odkaz:
https://doaj.org/article/652b60e4f28447cc84307c54a3ca3ccb
Autor:
Anett Illés, Dóra Csabán, Zoltán Grosz, Péter Balicza, András Gézsi, Viktor Molnár, Renáta Bencsik, Anikó Gál, Péter Klivényi, Maria Judit Molnar
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
The genetic analysis of early-onset Parkinsonian disorder (EOPD) is part of the clinical diagnostics. Several genes have been implicated in the genetic background of Parkinsonism, which is clinically indistinguishable from idiopathic Parkinson’s di
Externí odkaz:
https://doaj.org/article/70d119499d72403c91410c215143ca65
Autor:
Péter Balicza, Zoltán Grosz, Viktor Molnár, Anett Illés, Dora Csabán, Andras Gézsi, Lívia Dézsi, Dénes Zádori, László Vécsei, Mária Judit Molnár
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Background:NKX2-1 related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequentl
Externí odkaz:
https://doaj.org/article/29a8ef6e2ffb44f08eeeba06d530d232
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