Refractory Burkitt Lymphoma Following Acute Lymphoblastic Leukemia in a Patient with Homozygous PMS2 Deficiency

Autor: Dildar Bahar Genç, Zeynep Yıldız Yıldırmak, Murat Elli, Akif Ayaz, Özlem Ton

Publikováno v: Turkish Journal of Hematology, Vol 41, Iss 2, Pp 126-127 (2024)

Externí odkaz: https://doaj.org/article/f2c912b958ac4fb98d8d2ca404dabce1

A pooled RT-PCR testing strategy for more efficient COVID-19 pandemic management

Autor: Akif Ayaz, Asli Guner Ozturk Demir, Gurkan Ozturk, Mehmet Kocak

Publikováno v: International Journal of Infectious Diseases, Vol 116, Iss , Pp 1-6 (2022)

ABSTRACT: Objectives: Reverse transcription polymerase chain reaction (RT-PCR) testing is indispensable in management of the coronavirus disease 2019 (COVID-19) pandemic. However, with the emergence of new variants of severe acute respiratory syndrom

Externí odkaz: https://doaj.org/article/8d685e7279b04fb6b249ad07ec8e5dfa

Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

Autor: Tuğçe Aksu Uzunhan, Biray Ertürk, Pelin Özyavuz Çubuk, Bülent Uyanık, Akif Ayaz, Onur Akan, Taha Reşid Özdemir

Publikováno v: Journal of Behçet Uz Children's Hospital, Vol 10, Iss 2, Pp 127-135 (2020)

INTRODUCTION: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics. METHODS: Patients aged 0-18 years o

Externí odkaz: https://doaj.org/article/6b1f1df915ae43d9b4dd617703a28fe2

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

Autor: Çağatay Günay, Duygu Aykol, Özlem Özsoy, Ece Sönmezler, Yaren Sena Hanci, Bülent Kara, Deniz Akkoyunlu Sünnetçi, Naci Cine, Adnan Deniz, Tolgahan Özer, Cemile Büşra Ölçülü, Özlem Yilmaz, Seda Kanmaz, Sanem Yilmaz, Hasan Tekgül, Nihal Yildiz, Elif Acar Arslan, Ali Cansu, Nihal Olgaç Dündar, Fatma Kusgoz, Elif Didinmez, Pınar Gençpinar, Tuğçe Aksu Uzunhan, Biray Ertürk, Alper Gezdirici, Akif Ayaz, Akgün Ölmez, Müge Ayanoğlu, Ayşe Tosun, Yasemin Topçu, Betül Kiliç, Kürşad Aydin, Ezgi Çağlar, Özlem Ersoy Kosvali, Çetin Okuyaz, Şeyda Besen, Leman Tekin Orgun, İlknur Erol, Deniz Yüksel, Abdullah Sezer, Ergin Atasoy, Ülkühan Toprak, Serdal Güngör, Bilge Ozgor, Meral Karadağ, Cengiz Dilber, Bahtiyar Şahinoğlu, Emek Uyur Yalçin, Nilüfer Eldes Hacifazlioglu, Ahmet Yaramiş, Pınar Edem, Hande Gezici Tekin, Ünsal Yilmaz, Aycan Ünalp, Sevim Turay, Didem Biçer, Gülen Gül Mert, İpek Dokurel Çetin, Serkan Kirik, Gülten Öztürk, Yasemin Karal, Aslıhan Sanri, Ayşe Aksoy, Muzaffer Polat, Nezir Özgün, Didem Soydemir, Gamze Sarikaya Uzan, Döndü Ülker Üstebay, Ayşen Gök, Mehmet Can Yeşilmen, Uluç Yiş, Gökhan Karakülah, Ahmet Bursali, Yavuz Oktay, Semra Hiz Kurul

Publikováno v: Neuropediatrics.

Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4841c2282b9a7b14fabbf904507e8a32
https://doi.org/10.1055/a-2034-8528

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Autor: Sevcan Tug Bozdogan, Ahmet C. Ceylan, Alper Gezdirici, Sukru Candan, Harsha Doddapaneni, Daniel G. Calame, Muhsin Elmas, Özlem Sezer, Shalini N. Jhangiani, Osman Yeşilbaş, Davut Gul, Sinem Yalcintepe, Nursel Elcioglu, Akif Ayaz, Jennifer E. Posey, Ozge Ozalp, Haowei Du, Yavuz Bayram, Betül Kılıç, Moez Dawood, Hatip Aydin, Serdal Güngör, Angad Jolly, Ender Karaca, Haktan Bağış Erdem, Vehap Topcu, Christopher M. Grochowski, Sedat Işıkay, Elif Yilmaz Gulec, Richard A. Gibbs, Ruizhi Duan, Emine Demiral, Donna M. Muzny, Jianhong Hu, Jaya Punetha, Tadahiro Mitani, Tulay Tos, Davut Pehlivan, Huseyin Aslan, Jawid M Fatih, Isabella Herman, Gozde Yesil, Salih Cicek, Zeynep Coban Akdemir, Bilgen Bilge Geçkinli, James R. Lupski, Claudia M.B. Carvalho, Gulsen Akay, Dana Marafi

Publikováno v: Am J Hum Genet

Neurodevelopmental disorders (NDD5) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDD5 is > 3%, resulting in significant sociocultural and econom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::286494a6f075e75375bf1f2e63bb3558
https://doi.org/10.1016/j.ajhg.2021.08.009