Search Results - "Semerci, C. Nur"

Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort by 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

“…The pandemic coronavirus disease 2019 (COVID-19) has caused a high mortality rate and poses a significant threat to the population. The disease may progress…”
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Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition by Ceylan, Gülay Güleç, Satılmış, S. Betül Arslan, Çavdarlı, Büşranur, Gündüz, C. Nur Semerci

“…Cancer is a clonal disease that develops as a result of the changes on the genetic material by various factors in micro/macro environment. It has a multi-step…”
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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy by 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

“…Using whole exome sequencing, Fassio et al. identify de novo mutations in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental…”
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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice by 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

“…Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly…”
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Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD) by 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

“…Abstract Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and…”
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Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family by CEVIK TUFAN, A, LALE SATIROGLU-TUFAN, N, JACKSON, Gail C, NUR SEMERCI, C, SOLAK, Savas, YAGCI, Baki

“…Pseudoachondroplasia (PSACH) is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein (COMP)…”
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Patient with 45,X karyotype and severe virilization occult Y sequences by Corduk, Nergul, Semiz, Serap, Koltuksuz, Ugur, Semerci, C. Nur, Duzcan, Fusun, Duzcan, Ender, Satiroglu‐Tufan, N. Lale

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Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome by 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

“…Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth…”
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Detection of Y Chromosomal Material in Patients with a 45,X Karyotype by PCR Method by 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

“…A 45,X karyotype is one of the common chromosomal abnormalities characterized by short stature, lack of development of secondary sexual characteristics, webbed…”
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The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene by Ergin, Hacer, Semerci, C Nur, Karakuş, Y Tuğrul, Scheffer, Hans, Ergin, Seniz, Koltuksuz, Uğur, Meijer, Rowdy, Satiroğlu-Tufan, N Lale

“…The p63 gene is a transcription factor and a member of the p53 family. Heterozygote mutation of the p63 gene is suggested in a number of human syndromes…”
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Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice by 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

“…[This corrects the article DOI: 10.1371/journal.pgen.1002114.]…”
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Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia by Semerci, C Nur, Kalay, Ersan, Yıldırım, Cem, Dinçer, Tuba, Olmez, Akgün, Toraman, Bayram, Koçyiğit, Ali, Bulgu, Yunus, Okur, Volkan, Satıroğlu-Tufan, Lale, Akarsu, Nurten A

“…This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. In total, two Turkish families with a total of nine…”
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Accurate Diagnosis of a Homozygous G1138A Mutation in the Fibroblast Growth Factor Receptor 3 Gene Responsible for Achondroplasia by Satiroglu-Tufan, N. Lale, Tufan, A. Cevik, Semerci, C. Nur, Bagci, Huseyin

“…Achondroplasia is the most common genetic form of dwarfism inherited as an autosomal dominant disorder. Individuals affected with achondroplasia have impaired…”
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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? by 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

“…Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in…”
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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 by 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.

“…We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array‐based comparative…”
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Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family by Ozdemir, Ozmert M A, Kiliç, Ilknur, Ozsari, Tamer, Kiliç, B Alper, Faivre, Laurence, Aral, Bernard, Gürses, Dolunay, Semerci, C Nur

“…Baller-Gerold syndrome (BGS) is characterized by craniosynostosis and preaxial upper-limb malformations, and it has an autosomal recessive inheritance…”
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A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies by Ergin, Hacer, Semerci, C Nur, Bican, Mevlüt, Düzcan, Füsun, Yagci, A Baki, Erdogan, Kadri Murat, Tufan, A Cevik

“…Malformations of the lower limbs are rare and heterogeneous anomalies. Some congenital anomalies involving face, gastrointestinal system, skeletal system,…”
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Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition by Ceylan, Gülay Güleç, Satılmış, S. Betül Arslan, Çavdarlı, Büşranur, Gündüz, C. Nur Semerci

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Is it a new syndrome or a clinical variability in cerebro‐oculo‐nasal syndrome? by Semerci, C. Nur, Zorlu, Pelin, Topal, Yasar, Izbudak, Izlem, Karacan, Candemir, Balci, Sevim

“…We present a male infant 2.5‐months old with asymmetric skull, anophthalmia, apparent hypertelorism, abnormal nares, unilateral cleft lip and palate, and…”
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High diagnostic yield with algorithmic molecular approach on hereditary neuropathies by Ceylan, Gülay Güleç, Habiloğlu, Esra, Çavdarlı, Büşranur, Tuncez, Ebru, Bilen, Sule, Köken, Özlem Yayıcı, Gündüz, C Nur Semerci

“…Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted…”
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