Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
Staufner, Christian, Peters, Bianca, Wagner, Matias, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicola, Dionisi-Vici, Carlo, Distelmaier, Felix, Bozbulut, Neslihan Ekşi, Feillet, François, Gonzales, Emmanuel, Hadzic, Nedim, Hauck, Fabian, Hegarty, Robert, Hempel, Maja, Herget, Theresia, Klein, Christoph, Konstantopoulou, Vassiliki, Kopajtich, Robert, Kuster, Alice, Laass, Martin W., Lainka, Elke, Larson-Nath, Catherine, Leibner, Alexander, Lurz, Eberhard, Mayr, Johannes A., McKiernan, Patrick, Mention, Karine, Moog, Ute, Mungan, Neslihan Onenli, Riedhammer, Korbinian M., Santer, René, Palafoll, Irene Valenzuela, Vockley, Jerry, Westphal, Dominik S., Wiedemann, Arnaud, Wortmann, Saskia B., Diwan, Gaurav D., Russell, Robert B., Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Lenz, Dominic
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy
Kotlarz, Daniel, Beier, Rita, Murugan, Dhaarini, Diestelhorst, Jana, Jensen, Ole, Boztug, Kaan, Pfeifer, Dietmar, Kreipe, Hans, Pfister, Eva–Doreen, Baumann, Ulrich, Puchalka, Jacek, Bohne, Jens, Egritas, Odul, Dalgic, Buket, Kolho, Kaija–Leena, Sauerbrey, Axel, Buderus, Stephan, Güngör, Tayfun, Enninger, Axel, Koda, Yu Kar Ling, Guariso, Graziella, Weiss, Batia, Corbacioglu, Selim, Socha, Piotr, Uslu, Nuray, Metin, Ayse, Wahbeh, Ghassan T, Husain, Khalid, Ramadan, Dina, Al–Herz, Waleed, Grimbacher, Bodo, Sauer, Martin, Sykora, Karl–Walter, Koletzko, Sibylle, Klein, Christoph
Published in Gastroenterology (New York, N.Y. 1943) (01.08.2012)
Published in Gastroenterology (New York, N.Y. 1943) (01.08.2012)
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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis
Ozen, Ahmet, Comrie, William A, Ardy, Rico C, Domínguez Conde, Cecilia, Dalgic, Buket, Beser, Ömer F, Morawski, Aaron R, Karakoc-Aydiner, Elif, Tutar, Engin, Baris, Safa, Ozcay, Figen, Serwas, Nina K, Zhang, Yu, Matthews, Helen F, Pittaluga, Stefania, Folio, Les R, Unlusoy Aksu, Aysel, McElwee, Joshua J, Krolo, Ana, Kiykim, Ayca, Baris, Zeren, Gulsan, Meltem, Ogulur, Ismail, Snapper, Scott B, Houwen, Roderick H.J, Leavis, Helen L, Ertem, Deniz, Kain, Renate, Sari, Sinan, Erkan, Tülay, Su, Helen C, Boztug, Kaan, Lenardo, Michael J
Published in The New England journal of medicine (06.07.2017)
Published in The New England journal of medicine (06.07.2017)
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ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
Vilarinho, Sílvia, Sari, Sinan, Mazzacuva, Francesca, Bilgüvar, Kaya, Esendagli-Yilmaz, Güldal, Jain, Dhanpat, Akyol, Gülen, Dalgiç, Buket, Günel, Murat, Clayton, Peter T., Lifton, Richard P.
Published in Proceedings of the National Academy of Sciences - PNAS (04.10.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (04.10.2016)
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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
van Rijn, Jorik M., Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y., van der Doef, Hubert P.J., van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H.M., Thian, Marini, Kokke, Freddy T.M., Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Aksu, Aysel Ünlüsoy, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C.A., Lichtenbelt, Klaske D., Massink, Maarten P.G., Duran, Karen J., Verheij, Joke B.G.M, Lugtenberg, Dorien, Nikkels, Peter G.J., Brouwer, Henricus G.F., Verkade, Henkjan J., Scheenstra, René, Spee, Bart, Nieuwenhuis, Edward E.S., Coffer, Paul J., Janecke, Andreas R., van Haaften, Gijs, Houwen, Roderick H.J., Müller, Thomas, Middendorp, Sabine, Boztug, Kaan
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.07.2018)
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The evaluation of the use of 2D shear-wave ultrasound elastography in differentiation of clinically insignificant and significant liver fibrosis in pediatric age group
Akyuz, Melih, Gurcan Kaya, Neslihan, Esendagli, Guldal, Dalgic, Buket, Ozhan Oktar, Suna
Published in Abdominal imaging (01.05.2021)
Published in Abdominal imaging (01.05.2021)
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Ozen, Ahmet, Kasap, Nurhan, Vujkovic-Cvijin, Ivan, Apps, Richard, Cheung, Foo, Karakoc-Aydiner, Elif, Akkelle, Bilge, Sari, Sinan, Tutar, Engin, Ozcay, Figen, Uygun, Dilara Kocacik, Islek, Ali, Akgun, Gamze, Selcuk, Merve, Sezer, Oya Balci, Zhang, Yu, Kutluk, Gunsel, Topal, Erdem, Sayar, Ersin, Celikel, Cigdem, Houwen, Roderick H J, Bingol, Aysen, Ogulur, Ismail, Eltan, Sevgi Bilgic, Snow, Andrew L, Lake, Camille, Fantoni, Giovanna, Alba, Camille, Sellers, Brian, Chauvin, Samuel D, Dalgard, Clifton L, Harari, Olivier, Ni, Yan G, Wang, Ming-Dauh, Devalaraja-Narashimha, Kishor, Subramanian, Poorani, Ergelen, Rabia, Artan, Reha, Guner, Sukru Nail, Dalgic, Buket, Tsang, John, Belkaid, Yasmine, Ertem, Deniz, Baris, Safa, Lenardo, Michael J
Published in Nature immunology (01.02.2021)
Published in Nature immunology (01.02.2021)
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GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension
Drzewiecki, Kaela, Choi, Jungmin, Brancale, Joseph, Leney-Greene, Michael A, Sari, Sinan, Dalgiç, Buket, Ünlüsoy Aksu, Aysel, Evirgen Şahin, Gülseren, Ozen, Ahmet, Baris, Safa, Karakoc-Aydiner, Elif, Jain, Dhanpat, Kleiner, David, Schmalz, Michael, Radhakrishnan, Kadakkal, Zhang, Junhui, Hoebe, Kasper, Su, Helen C, Pereira, João P, Lenardo, Michael J, Lifton, Richard P, Vilarinho, Sílvia
Published in The Journal of experimental medicine (05.07.2021)
Published in The Journal of experimental medicine (05.07.2021)
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Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis
Bulut, Fatma Derya, Bozbulut, Neslihan Ekşi, Özalp, Özge, Dalgiç, Buket, Mungan, Neslihan Önenli, Koç Uçar, Habibe, Biberoğlu, Gürsel
Published in Journal of Pediatric Endocrinology & Metabolism (25.05.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (25.05.2022)
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Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage
Callea, Francesco, Giovannoni, Isabella, Sari, Sinan, Guldal, Esendagli, Dalgic, Buket, Akyol, Gulen, Sogo, Tsuyoshi, Al-Hussaini, Abdulrahman, Maggiore, Giuseppe, Bartuli, Andrea, Boldrini, Renata, Francalanci, Paola, Bellacchio, Emanuele
Published in International journal of molecular sciences (15.12.2017)
Published in International journal of molecular sciences (15.12.2017)
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Is the Pediatric Eosinophilic Esophagitis Symptom Score v2.0 reliable for telemedicine?
Terece, Sinem Polat, Yapar, Dilek, Karagöl, Hacer İlbilge Ertoy, Köken, Gizem, Düztaş, Demet Teker, Eğritaş, Ödül, Sari, Sinan, Dalgiç, Buket, Bakirtaş, Arzu
Published in Turkish journal of medical sciences (01.08.2023)
Published in Turkish journal of medical sciences (01.08.2023)
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Partial External Biliary Diversion for Severe Diarrhea After Liver Transplant in Patients with Progressive Familial Intrahepatic Cholestasis Type 1
Teker Düztaş, Demet, Sarı, Sinan, Eğritaş Gürkan, Ödül, Sözen, Mustafa Hakan, Dalgıç, Buket, Dalgıç, Aydın
Published in Experimental and clinical transplantation (01.05.2022)
Published in Experimental and clinical transplantation (01.05.2022)
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Nutritional Support in Malnourished Children With Compromised Gastrointestinal Function: Utility of Peptide-Based Enteral Therapy
Selimoglu, Mukadder Ayse, Kansu, Aydan, Aydogdu, Sema, Sarioglu, Aysugul Alptekin, Erdogan, Simge, Dalgic, Buket, Yuce, Aysel, Cullu Cokugras, Fugen
Published in Frontiers in pediatrics (07.06.2021)
Published in Frontiers in pediatrics (07.06.2021)
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The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease
Kuloglu, Zarife, Kansu, Aydan, Selbuz, Suna, Kalaycı, Ayhan G., Şahin, Gülseren, Kirsaclioglu, Ceyda Tuna, Demirören, Kaan, Dalgıç, Buket, Kasırga, Erhun, Önal, Zerrin, İşlek, Ali
Published in Journal of pediatric gastroenterology and nutrition (01.03.2019)
Published in Journal of pediatric gastroenterology and nutrition (01.03.2019)
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