Konjenital batın ön duvarı defektleri: 4 yıllık olgu serisi

Autor: Hacer Yapıcıoğlu, Ahmet İbrahim Kurtoğlu, Şeref Selçuk Kılıç, Çiğdem Akcabay, Ferda Özlü, Şerif Hamitoğlu, Nejat Narlı, Mehmet Satar

Publikováno v: Cukurova Medical Journal, Vol 46, Iss 3, Pp 1309-1314 (2021)

Konjenital batın ön duvarı defektleri nadir görülen yapısal anomalilerdir. Bu olguların ve eşlik eden anomalilerin erken saptanması, bebeklerin doğumdan sonra yatırılarak izleminin ve bakımlarının erken başlanması prognozu etkilemekt

Externí odkaz: https://doaj.org/article/cc0728e54e734d66a3e953efd670cc0f

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Autor: Elisa Calì 1, Sheng-Jia Lin 2, Clarissa Rocca 1, Yavuz Sahin 3, Aisha Al Shamsi 4, Salima El Chehadeh 5, Myriam Chaabouni 6, Kshitij Mankad 7, Evangelia Galanaki 1, Stephanie Efthymiou 1, Sniya Sudhakar 7, Alkyoni Athanasiou-Fragkouli 1, Tamer Çelik 8, Nejat Narlı 9, Sebastiano Bianca 10, David Murphy 11, Francisco Martins De Carvalho Moreira 12, SYNaPS Study Group, Andrea Accogli 13, Cassidy Petree 2, Kevin Huang 2, Kamel Monastiri 14, Masoud Edizadeh 3, Rosaria Nardello 11, Marzia Ognibene 15, Patrizia De Marco 15, Martino Ruggieri 16, Federico Zara 17, Pasquale Striano 18, Yavuz Şahin 19, Lihadh Al-Gazali 20, Marie Therese Abi Warde 21, Benedicte Gerard 22, Giovanni Zifarelli 23, Christian Beetz 23, Sara Fortuna 24, Miguel Soler 25, Enza Maria Valente 26, Gaurav Varshney 2, Reza Maroofian 1, Vincenzo Salpietro 27, Henry Houlden 1, Nardello. Rosaria

Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::44cb27d8a9ee998cf30af0f7837c7845
https://hdl.handle.net/10447/580372

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Autor: Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, null Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S. Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W. Saadi, Maha S. Zaki, Chahnez C. Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G. Karimiani, Ahmed M. Salih, Luca A. Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F. Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F. Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D. Mangano, Francesco Chiarelli, Queen Square Genomics

Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52
https://hdl.handle.net/20.500.12445/2759

İki yenidoğan bebekte pnömomediyastinumun kendiliğinden düzelmesi

Autor: Hacer Yapıcıoğlu Yıldızdaş, Önder Özden, Hilmi Serdar İskit, Gülseren Bilen Yurdakul, Mustafa Akçalı, Ferda Özlü, Süreyya Soyupak, Mehmet Satar, Nejat Narlı

Publikováno v: Cukurova Medical Journal, Vol 43, Iss 1, Pp 203-206 (2018)

Pnömomediastinum mediastene hava girişi ile oluşmaktadır. Çocuklarda genellikle astıma bağlıdır, ancak yenidoğanlarda pnömoni veya mekonyum aspirasyon sendromu predispozan faktörlerdir. Pnömomediastinum tanısı genellikle akciğer grafi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8c958e7d79e3e996807b36d10a01bc77
https://dergipark.org.tr/tr/pub/cumj/issue/28626/340688?publisher=cu

Yenidoğan Yoğun Bakım Ünitesindeki Bebeklerin Nekrotize Enterokolit Risk Faktörlerinin Karşılaştırılması

Autor: Ferda Özlü, Hacer Yapıcıoğlu, Nejat Narlı, Mehmet Satar, Kenan Özcan, Recep Tuncer

Publikováno v: Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 38, Iss 4, Pp 642-647 (2013)
Volume: 38, Issue: 4 642-647
Cukurova Medical Journal

Purpose: Necrotizing enterocolitis is one of the important problems of premature infants. The incidence is about 1-5% in infants followed in neonatal care units and inversely related to gestational age and birth weight. Materials and Methods: In this

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::112d6cdd50c2ebd08ffdee9b49ea9dfc
http://www.scopemed.org/fulltextpdf.php?mno=34177