Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Safiye Gunes, Sager"'
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A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep
Autor: Safiye Gunes Sager, Ayberk Turkyilmaz, Hediye Pınar Gunbey, Elif Yuksel Karatoprak, Elif Sibel Aslan, Yasemin Akın
Background: Beck-Fahrner syndrome is caused by homozygous or heterozygous mutations in TET3 on chromosome 2p13. The general characteristics of this syndrome include behavioral abnormalities such as autistic features, attention-deficit hyperactivity d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c10af880260f6d3e4b56558921cc854
https://hdl.handle.net/20.500.12445/2841
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4
Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene
Autor: Ayberk Türkyılmaz, Safiye Gunes Sager
Publikováno v: Molecular Syndromology. 13:56-63
Autosomal recessive primary microcephaly (MCPH) is a uncommon disorder due to congenital deficiency in the development of the cerebral cortex, characterized by a head circumference below 2 SD. MCPH is a group of diseases with genetic heterogeneity an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::33a309150c37a4711e798584e9245372
https://doi.org/10.1159/000516201
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5
The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy
Autor: Andras, Fogarasi, Elisa, Fazzi, Ana R P, Smorenburg, Maria, Mazurkiewicz-Beldzinska, Argirios, Dinopoulos, Alena, Pobiecka, Dea, Schröder-van den Nieuwendijk, Josef, Kraus, Hasan, Tekgül, Maria, Koutsaki, Giovanni, Baranello, Simona, Bertoli, Elisa, Caramaschi, Duccio Maria, Cordelli, Ramona, De Amicis, Maria Luisa, Forchielli, Azzurra, Guerra, Althea, Lividini, Maddalena, Marchiò, Andrea, Rossi, Dea Schröder-van den, Nieuwendijk, Jędrzej, Fliciński, Barbara, Gurda, Anna, Lemska, Agnieszka, Matheisel, Zuzanna, Niwinska, Małgorzata, Pawłowicz, Agnieszka, Sawicka, Barbara, Steinborn, Marta, Szmuda, Anna, Winczewska-Wiktor, Marta, Zawadzka, Ebru, Arhan, Kursad, Aydin, Erhan, Bayram, Kursat Bora, Carman, Pinar, Edem, Deniz, Ertem, Özben Akıncı, Goktas, Serdal, Gungor, Goknur, Haliloglu, Aydan, Kansu, Mustafa, Kömür, Akmer, Mutlu, Ceyda Tuna, Kırsaçlıoğlu, Çetin, Okuyaz, Bilge, Özgör, Yesim, Ozturk, Safiye Gunes, Sager, Esra, Sarıgeçili, Mukadder Ayse, Selimoglu, Hepsen Mine Öztürk, Serin, Serap Tıraş, Teber, Gülten, Thomas, Dilsad, Turkdogan, Burcu, Volkan, Coşkun, Yarar, Sanem Keskin, Yilmaz
Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. Materials and methods:
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9727200483ce29407dbc20f7e3e3d6a8
https://avesis.deu.edu.tr/publication/details/824a25c6-3f2f-4d7f-94fc-9d7cf13de9ea/oai
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6
Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot-Marie-Tooth disease
Autor: Aysin Tuba Kaplan, Sibel Oskan Yalcin, Safiye Gunes Sager, Ayberk Türkyılmaz, Rahşan İnan
Publikováno v: International ophthalmology.
Purpose: To evaluate the spectral-domain optical coherence tomography (SD-OCT) findings and pattern visual evoked potential (VEP) in Charcot-Marie-Tooth (CMT) disease.Methods: Seventeen patients with CMT disease and 17 control subjects were included
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff2fefe82501117f3d048649cfbaf177
https://pubmed.ncbi.nlm.nih.gov/35953577
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7
Identification of Novel Gene Variants in Turkish Families with Non-Syndromic Congenital Cataracts Using Whole-Exome Sequencing
Autor: Safiye Gunes Sager, Sibel Oskan Yalcın, Aysin Tuba Kaplan, Ayberk Türkyılmaz, Şaban Şimşek
Purpose The present study aimed to identify the molecular etiology of non-syndromic congenital cataract (CC) using whole-exome sequencing (WES) analysis. Methods In the present study, ophthalmologic results and pedigree analysis of the families of 12
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9f7a43e2544fa5b18314616676f66f5d
https://doi.org/10.21203/rs.3.rs-1072160/v1
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8
Evaluation of optical coherence tomography findings in adolescents with genetic generalized epilepsy
Autor: Safiye Gunes Sager, Aysin Tuba Kaplan, Sibel Oskan Yalcın
Publikováno v: European journal of ophthalmology. 32(6)
Objective To evaluate retinal nerve fiber layer (RNFL) thickness, central macular thickness (CMT), and subfoveal choroid thickness (CT) by using optical coherence tomography (OCT) in adolescents with newly diagnosed epilepsy and patients who had been
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19d6c73d6cc23c8bf5d7700aa6711ee1
https://pubmed.ncbi.nlm.nih.gov/34657446
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