Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Elif Yılmaz Güleç"'
Autor:
Elif Söbü, Gül Demet Kaya Özçora, Elif Yılmaz Güleç, Bahtiyar Şahinoğlu, Feride Tahmiscioğlu Bucak
Publikováno v:
JCRPE, Vol 16, Iss 3, Pp 344-350 (2024)
Microcephaly, epilepsy and diabetes syndrome 1 (MEDS1) is a rare autosomal recessive disorder caused by defects in the immediate early response 3 interacting protein 1 (IER3IP1) gene. Only nine cases have been described in the literature. MEDS1 manif
Externí odkaz:
https://doaj.org/article/bd9f2857a6604e8f9587537dbd9bc503
Autor:
Elif, Söbü, Gül Demet, Kaya Özçora, Elif, Yılmaz Güleç, Bahtiyar, Şahinoğlu, Feride, Tahmiscioğlu Bucak
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology.
Microcephaly, Epilepsy, and Diabetes Syndrome 1 (MEDS1) is a rare autosomal recessive disorder and caused by defects in the IER3IP1 (Immediate Early Response 3 Interacting Protein 1) gene. Only 9 cases have been described in the literature. MEDS1 man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d62b37d73f111ef1dac51ff13213746b
https://doi.org/10.4274/jcrpe.galenos.2022.2022-8-12
https://doi.org/10.4274/jcrpe.galenos.2022.2022-8-12
Autor:
Erhan Pariltay, Elif Yılmaz-Güleç, Jean Muller, Taha Reşid Özdemir, Ilhan Satman, Ihsan Esen, Esra Ataman, Ihsan Ustun, M Emre Atabek, Tulay Tos, Deniz Torun, Juergen K Naggert, Jan D. Marshall, Ender Karaca, Nursel Elcioglu, Mustafa Taşkesen, Robert P Marshall, Gayle B. Collin, Sukru Candan, Aysegul Ozanturk, Sukru Ozturk, Claes Möller, Ilknur Erol, Fehime Kara Eroglu, Selma Düzenli, Rıza Köksal Özgül, Emin Karaca, Atilla Cayir
WOS: 000348684000001
PubMed ID: 25296579
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyop
PubMed ID: 25296579
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd5d4a3107242e2a848a169c1cd8b77d
https://europepmc.org/articles/PMC5460767/
https://europepmc.org/articles/PMC5460767/
Autor:
Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)
Summary: Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamili
Externí odkaz:
https://doaj.org/article/335675b4b479443ca3e74cb451032f99
Autor:
Ayşegül Ozantürk, Jan D Marshall, Gayle B Collin, Selma Düzenli, Robert P Marshall, Şükrü Candan, Tülay Tos, İhsan Esen, Mustafa Taşkesen, Atilla Çayır, Şükrü Öztürk, İhsan Üstün, Esra Ataman, Emin Karaca, Taha Reşid Özdemir, İlknur Erol, Fehime Kara Eroğlu, Deniz Torun, Erhan Parıltay, Elif Yılmaz-Güleç, Ender Karaca, M Emre Atabek, Nursel Elçioğlu, İlhan Satman, Claes Möller, Jean Muller, Jürgen K Naggert, Rıza Köksal Özgül
Publikováno v:
Journal of Human Genetics. 60:51-51
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::792f21acfc6290ea05ea191dd8d866a6
https://doi.org/10.1038/jhg.2014.101
https://doi.org/10.1038/jhg.2014.101
Autor:
Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
Publikováno v:
PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome seque
Externí odkaz:
https://doaj.org/article/5d530776325f402694439d56dd8f1977
Autor:
Funda Erol Çipe, Cigdem Aydogmus, Arzu Babayigit Hocaoglu, Merve Kilic, Gul Demet Kaya, Elif Yilmaz Gulec
Publikováno v:
Case Reports in Pediatrics, Vol 2014 (2014)
Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patie
Externí odkaz:
https://doaj.org/article/2f56f21957ca487d9132c570b095a26d