A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective.
Autorzy:
Taylan Şekeroğlu H; Hacettepe University Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey. UtineGE; Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Ankara, Turkey. Alikaşifoğlu M; Hacettepe University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
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Źródło:
Turkish journal of ophthalmology [Turk J Ophthalmol] 2016 Dec; Vol. 46 (6), pp. 299-300. Date of Electronic Publication: 2016 Dec 01.
Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.
Autorzy:
Ürel Demir G; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Doğan ÖA; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Şimşek Kiper PÖ; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. UtineGE; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Boduroğlu K; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Gucer S; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey. Alikaşifoğlu M; a Hacettepe Universitesi Tip Fakultesi , Ankara , Turkey.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2017 Dec; Vol. 36 (6), pp. 445-451. Date of Electronic Publication: 2017 Dec 08.
An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
Autorzy:
Ceylan AC; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Department of Medical Genetics, Ankara Ataturk Training and Research Hospital, Yildirim Beyazit University, Ankara, Turkey. Sahin I; Faculty of Medicine, Department of Medical Genetics, Ataturk University, Erzurum, Turkey.; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey. Erdem HB; Faculty of Medicine, Department of Medical Genetics, Ataturk University, Erzurum, Turkey.; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey. Kayhan G; Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey. Simsek-Kiper PO; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey. UtineGE; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey. Percin F; Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey. Boduroglu K; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey. Alikasifoglu M; Faculty of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey.; Faculty of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Autorzy:
Guleray N; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey. Taskiran ZE; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Simsek Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. UtineGE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Gucer S; Division of Pediatric Pathology, Department of Pediatrics, Hacettepe Universitesi Faculty of Medicine, Ankara, Turkey. Tokatli A; Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Boduroglu K; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2020 Apr; Vol. 39 (2), pp. 163-171. Date of Electronic Publication: 2019 Jul 15.
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Autorzy:
Taylan Şekeroğlu H; Hacettepe University Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey UtineGE; Hacettepe University Faculty of Medicine, Department of Pediatrics, Department of Pediatric Genetics, Ankara, Turkey
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Autorzy:
Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Karaosmanoğlu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Koşukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Ürel-Demir G; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Akgün-Doğan Ö; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Şimşek-Kiper PÖ; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Alikaşifoğlu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Boduroğlu K; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. UtineGE; Department of Pediatrics, Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability.
Autorzy:
Oğuz S; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. Arslan UE; Department of Health Research, Public Health Institute, Ankara, Turkey. Kiper PÖŞ; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey. Alikaşifoğlu M; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey. Boduroğlu K; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey. UtineGE; Department of Pediatrics, Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Obstructive sleep apnea in children with Down syndrome: is it possible to predict severe apnea?
Autorzy:
Hizal M; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. . Satırer O; Department of Pediatrics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey. Polat SE; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. Tural DA; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. Ozsezen B; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. Sunman B; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. Karahan S; Department of Biostatistic, Hacettepe University, Ankara, Turkey. Emiralioglu N; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey. UtineGE; Department of Pediatric Genetics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey. Boduroglu K; Department of Pediatric Genetics, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Ankara, Turkey. Yalcin E; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. Dogru D; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. Kiper N; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey. Ozcelik U; Department of Pediatric Pulmonology, Hacettepe University School of Medicine Ihsan Dogramacı Children's Hospital, Sihiye, Ankara, Turkey.
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Źródło:
European journal of pediatrics [Eur J Pediatr] 2022 Feb; Vol. 181 (2), pp. 735-743. Date of Electronic Publication: 2021 Sep 25.
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