Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Alper GEZDİRİCİ"'
Publikováno v:
Haseki Tıp Bülteni, Vol 62, Iss 2, Pp 92-96 (2024)
Aim: Some recent studies on PD have focused on the WNT-2 and TGF-β1 gene loci, but its genetic basis is still not clearly known. In this context, we aimed to evaluate the presence of WNT-2 and TGF-β1 gene expression and genetic similarity between p
Externí odkaz:
https://doaj.org/article/959fea890c59419fbd94344a78614fa4
Autor:
Sadık Etka Bayramoğlu, Nihat Sayın, Mehmet Erdoğan, Sümeyra Doğan, Alper Gezdirici, Merih Çetinkaya
Publikováno v:
Türk Oftalmoloji Dergisi, Vol 53, Iss 6, Pp 386-389 (2023)
A female infant born with a gestational age of 35 weeks and birth weight of 2500 g was referred for ophthalmic examination on the second postnatal day. Bilateral venous dilatation and arterial tortuosity, severe extraretinal fibrovascular proliferati
Externí odkaz:
https://doaj.org/article/82dec6b0b8ec4258bdfeb805a527f39d
Autor:
Burak Anıl Tuğci, Alper Gezdirici, Can Berk Aşaroğlu, Ercan Atasoy, İbrahim Sayın, Zahide Mine Yazıcı
Publikováno v:
Turkish Archives of Otorhinolaryngology, Vol 61, Iss 4, Pp 192-200 (2023)
In this article, we aim to present details of the cochlear implantation procedure performed in a patient with Primrose syndrome, which is a rare genetic condition characterized by physical deformities, sensorineural hearing loss, and metabolic disord
Externí odkaz:
https://doaj.org/article/a6c695bc0eee40638187472a333d094e
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:
Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Peter Walentek, Sebastian J. Arnold, Rolf Backofen, Miriam Schmidts
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Laterality defects are defined by the perturbed left–right arrangement of organs in the body, occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is a frequent underlying condition of defective left–right pat
Externí odkaz:
https://doaj.org/article/4e48fa0a6a1249bf9f4769be2632b89b
Autor:
Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E. Lamont, Davut Pehlivan, Dana Marafi, Juan P. Appendino, Jill V. Hunter, Zeynep C. Akdemir, Jawid M. Fatih, Shalini N. Jhangiani, Richard A. Gibbs, A. Micheil Innes, Jennifer E. Posey, James R. Lupski
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1395-1406 (2019)
Abstract Objective To characterize the molecular and clinical phenotypic basis of developmental and epileptic encephalopathies caused by rare biallelic variants in CACNA2D2. Methods Two affected individuals from a family with clinical features of ear
Externí odkaz:
https://doaj.org/article/9d511280f1404c109361e822b7aacab6
Autor:
Valentina Capo, Sara Penna, Ivan Merelli, Matteo Barcella, Serena Scala, Luca Basso-Ricci, Elena Draghici, Eleonora Palagano, Erika Zonari, Giacomo Desantis, Paolo Uva, Roberto Cusano, Lucia Sergi Sergi, Laura Crisafulli, Despina Moshous, Polina Stepensky, Katarzyna Drabko, Zühre Kaya, Ekrem Unal, Alper Gezdirici, Giuseppe Menna, Marta Serafini, Alessandro Aiuti, Silvia Laura Locatelli, Carmelo Carlo-Stella, Ansgar S. Schulz, Francesca Ficara, Cristina Sobacchi, Bernhard Gentner, Anna Villa
Publikováno v:
Haematologica, Vol 106, Iss 1 (2020)
Allogeneic hematopoietic stem cell transplantation is the treatment of choice for autosomal recessive osteopetrosis caused by defects in the TCIRG1 gene. Despite recent progress in conditioning, a relevant number of patients are not eligible for allo
Externí odkaz:
https://doaj.org/article/41f41f3cd71f426da4e55083438ac158
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:
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello
Publikováno v:
The American Journal of Human Genetics. 110:681-690
The blood-brain barrier (BBB) is an essential gatekeeper for the central nervous system and incidence of neurodevelopmental disorders (NDDs) is higher in infants with a history of intracerebral hemorrhage (ICH). We discovered a rare disease trait in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55945c53254c4d34de031af05e90375a
https://doi.org/10.1016/j.ajhg.2023.03.005
https://doi.org/10.1016/j.ajhg.2023.03.005
Publikováno v:
Journal of Academic Research in Medicine. 12:155-158
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6af2844c9aacd77a3a2a278830e4e446
https://doi.org/10.4274/jarem.galenos.2022.16878
https://doi.org/10.4274/jarem.galenos.2022.16878