Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort
Ceylan, Ahmet Cevdet, Çavdarlı, Büşranur, Ceylan, Gülay Güleç, Topçu, Vehap, Satılmış, S. Betül Arslan, Bektaş, Şerife Gökbulut, Kalem, Ayşe K., Kayaaslan, Bircan, Eser, Fatma, Kalkan, Emra Asfuroğlu, İnan, Osman, Hasanoğlu, İmran, Yüksel, Selcen, Ateş, İhsan, İzdeş, Seval, Güner, Rahmet, Gündüz, C. Nur Semerci
Published in The Tohoku Journal of Experimental Medicine (2023)
Published in The Tohoku Journal of Experimental Medicine (2023)
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Journal Article
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
Fassio, Anna, Esposito, Alessandro, Kato, Mitsuhiro, Saitsu, Hirotomo, Mei, Davide, Marini, Carla, Conti, Valerio, Nakashima, Mitsuko, Okamoto, Nobuhiko, Olmez Turker, Akgun, Albuz, Burcu, Semerci Gündüz, C Nur, Yanagihara, Keiko, Belmonte, Elisa, Maragliano, Luca, Ramsey, Keri, Balak, Chris, Siniard, Ashley, Narayanan, Vinodh, Ohba, Chihiro, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi, Benfenati, Fabio, Guerrini, Renzo
Published in Brain (London, England : 1878) (01.06.2018)
Published in Brain (London, England : 1878) (01.06.2018)
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Journal Article
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice
Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, van Bokhoven, Hans, Fitzpatrick, David R
Published in PLoS genetics (01.07.2011)
Published in PLoS genetics (01.07.2011)
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Journal Article
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)
Sanyal, Mrinmoy, Morimoto, Marie, Baradaran-Heravi, Alireza, Choi, Kunho, Kambham, Neeraja, Jensen, Kent, Dutt, Suparna, Dionis-Petersen, Kira Y, Liu, Lan Xiang, Felix, Katie, Mayfield, Christy, Dekel, Benjamin, Bokenkamp, Arend, Fryssira, Helen, Guillen-Navarro, Encarna, Lama, Giuliana, Brugnara, Milena, Lücke, Thomas, Olney, Ann Haskins, Hunley, Tracy E, Polat, Ayse Ipek, Yis, Uluc, Bogdanovic, Radovan, Mitrovic, Katarina, Berry, Susan, Najera, Lydia, Najafian, Behzad, Gentile, Mattia, Nur Semerci, C, Tsimaratos, Michel, Lewis, David B, Boerkoel, Cornelius F
Published in Clinical immunology (Orlando, Fla.) (01.12.2015)
Published in Clinical immunology (Orlando, Fla.) (01.12.2015)
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Journal Article
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family
CEVIK TUFAN, A, LALE SATIROGLU-TUFAN, N, JACKSON, Gail C, NUR SEMERCI, C, SOLAK, Savas, YAGCI, Baki
Published in European journal of human genetics : EJHG (01.10.2007)
Published in European journal of human genetics : EJHG (01.10.2007)
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Journal Article
Patient with 45,X karyotype and severe virilization occult Y sequences
Corduk, Nergul, Semiz, Serap, Koltuksuz, Ugur, Semerci, C. Nur, Duzcan, Fusun, Duzcan, Ender, Satiroglu‐Tufan, N. Lale
Published in Pediatrics international (01.02.2012)
Published in Pediatrics international (01.02.2012)
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Journal Article
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome
Dinçer, Tuba, Yorgancıoğlu-Budak, Gülden, Ölmez, Akgün, Er, İdris, Dodurga, Yavuz, Özdemir, Özmert Ma, Toraman, Bayram, Yıldırım, Adem, Sabir, Nuran, Akarsu, Nurten A, Semerci, C Nur, Kalay, Ersan
Published in European journal of human genetics : EJHG (01.10.2017)
Published in European journal of human genetics : EJHG (01.10.2017)
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Journal Article
Detection of Y Chromosomal Material in Patients with a 45,X Karyotype by PCR Method
Semerci, C. Nur, Satiroglu-Tufan, N. Lale, Turan, Serap, Bereket, Abdullah, Tuysuz, Beyhan, Yilmaz, Elif, Kayserili, Hulya, Karaman, Birsen, Semiz, Serap, Duzcan, Fusun, Bagci, Huseyin
Published in The Tohoku Journal of Experimental Medicine (01.03.2007)
Published in The Tohoku Journal of Experimental Medicine (01.03.2007)
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Journal Article
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene
Ergin, Hacer, Semerci, C Nur, Karakuş, Y Tuğrul, Scheffer, Hans, Ergin, Seniz, Koltuksuz, Uğur, Meijer, Rowdy, Satiroğlu-Tufan, N Lale
Published in Turkish journal of pediatrics (01.09.2010)
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Published in Turkish journal of pediatrics (01.09.2010)
Journal Article
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K, McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M, Schneider, Adele S, Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B, Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J, Gillessen-Kaesbach, Gabriele, Brunner, Han G, Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R
Published in PLoS genetics (01.12.2018)
Published in PLoS genetics (01.12.2018)
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Journal Article
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia
Semerci, C Nur, Kalay, Ersan, Yıldırım, Cem, Dinçer, Tuba, Ölmez, Akgün, Toraman, Bayram, Koçyiğit, Ali, Bulgu, Yunus, Okur, Volkan, Şatıroğlu-Tufan, Lale, Akarsu, Nurten A
Published in British journal of ophthalmology (01.06.2014)
Published in British journal of ophthalmology (01.06.2014)
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Journal Article
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J Marietta, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D Ross, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C Nur, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F
Published in Orphanet journal of rare diseases (22.09.2012)
Published in Orphanet journal of rare diseases (22.09.2012)
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Journal Article
Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome
Semerci, C. Nur, Cinbis, Mine, Ullmann, Reinhard, Steininger, Anne, Bahce, Muhterem, Yagci, Baki, Ozden, Serap, Sabir, Nuran, Gumus, Dilihan, Tepeli, Emre, Arteaga, Jazmín, Mutchinick, Osvaldo M.
Published in American journal of medical genetics. Part A (01.07.2010)
Published in American journal of medical genetics. Part A (01.07.2010)
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Journal Article
Translocation Y;21 in an Infertile Male Patient Having 45, X Karyotype: Case Report
SEMERCİ, C. Nur, ESER, Metin, ŞATIROĞLU TUFAN, Lale, KALKAN, Tarkan, ÇETİN, G. Ozan, ÖZTÜRK, Özkan, BAĞCI, Gülseren
Published in Türkiye klinikleri. Türkiye klinikeri journal of medical sciences. Tıp bilimleri dergisi (01.12.2012)
Published in Türkiye klinikleri. Türkiye klinikeri journal of medical sciences. Tıp bilimleri dergisi (01.12.2012)
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Journal Article
Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family
Ozdemir, Ozmert M A, Kiliç, Ilknur, Ozsari, Tamer, Kiliç, B Alper, Faivre, Laurence, Aral, Bernard, Gürses, Dolunay, Semerci, C Nur
Published in Turkish journal of pediatrics (01.11.2009)
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Published in Turkish journal of pediatrics (01.11.2009)
Journal Article
A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies
Ergin, Hacer, Semerci, C Nur, Bican, Mevlüt, Düzcan, Füsun, Yagci, A Baki, Erdogan, Kadri Murat, Tufan, A Cevik
Published in Turkish journal of pediatrics (01.10.2006)
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Published in Turkish journal of pediatrics (01.10.2006)
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