PEDIATRIC CARDIOMYOPATHY MUTATIONS IN A HIGHLY CONSANGUINEOUS POPULATION
Fahed, Akl C, Candan, Şükrü, Haghighi, Alireza, DePalma, Steven, McDonough, Barbara, Erer, Betül, Ekmekçi, Ahmet, Bornaun, Helen, Öztarhan, Kazum, Aydin, Hatip, Seidman, Jonathan, Seidman, Christine
Published in Journal of the American College of Cardiology (05.04.2016)
Published in Journal of the American College of Cardiology (05.04.2016)
Get full text
Journal Article
Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Muller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal
Published in Journal of human genetics (01.01.2015)
Published in Journal of human genetics (01.01.2015)
Get full text
Journal Article
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
Get full text
Journal Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Muller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal
Published in International journal of human genetics (01.01.2015)
Published in International journal of human genetics (01.01.2015)
Get full text
Journal Article
Assessment of cardiac function in absence of congenital and acquired heart disease in patients with Down syndrome
Balli, Sevket, Yucel, Ilker Kemal, Kibar, Ayse Esin, Ece, Ibrahim, Dalkiran, Eylem Sen, Candan, Sukru
Published in World journal of pediatrics : WJP (01.11.2016)
Published in World journal of pediatrics : WJP (01.11.2016)
Get full text
Journal Article
Corneal biomechanical properties and intraocular pressure measurement in Marfan patients
Kara, Necip, MD, Bozkurt, Ercument, MD, Baz, Okkes, MD, Altinkaynak, Hasan, MD, Dundar, Huseyin, MD, Yuksel, Kemal, MD, Yazici, Ahmet Taylan, MD, Demirok, Ahmet, MD, Candan, Sukru, MD
Published in Journal of cataract and refractive surgery (01.02.2012)
Published in Journal of cataract and refractive surgery (01.02.2012)
Get full text
Journal Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Muller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal
Published in Journal of human genetics (01.01.2015)
Published in Journal of human genetics (01.01.2015)
Get full text
Journal Article
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz, Coban Akdemir, Zeynep, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Tug Bozdogan, Sevcan, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Yilmaz Gulec, Elif, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R.
Published in Neuron (Cambridge, Mass.) (04.11.2015)
Published in Neuron (Cambridge, Mass.) (04.11.2015)
Get full text
Journal Article
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms
Huang, Yan, Ma, Mengqi, Mao, Xiao, Pehlivan, Davut, Kanca, Oguz, Un-Candan, Feride, Shu, Li, Akay, Gulsen, Mitani, Tadahiro, Lu, Shenzhao, Candan, Sukru, Wang, Hua, Xiao, Bo, Lupski, James R, Bellen, Hugo J
Published in Human molecular genetics (23.08.2022)
Published in Human molecular genetics (23.08.2022)
Get full text
Journal Article
ALX4 dysfunction disrupts craniofacial and epidermal development
Kayserili, Hulya, Uz, Elif, Niessen, Carien, Vargel, Ibrahim, Alanay, Yasemin, Tuncbilek, Gokhan, Yigit, Gokhan, Uyguner, Oya, Candan, Sukru, Okur, Hamza, Kaygin, Serkan, Balci, Sevim, Mavili, Emin, Alikasifoglu, Mehmet, Haase, Ingo, Wollnik, Bernd, Akarsu, Nurten Ayse
Published in Human molecular genetics (15.11.2009)
Published in Human molecular genetics (15.11.2009)
Get full text
Journal Article
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype
Gulec, Elif Yilmaz, Ocak, Zeynep, Candan, Sukru, Ataman, Esra, Yarar, Coskun
Published in International journal of cardiology (01.05.2015)
Published in International journal of cardiology (01.05.2015)
Get full text
Journal Article
Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young
Fatkin, Diane, Lam, Lien, Herman, Daniel S, Benson, Craig C, Felkin, Leanne E, Barton, Paul J.R, Walsh, Roddy, Candan, Sukru, Ware, James S, Roberts, Angharad M, Chung, Wendy K, Smoot, Leslie, Bornaun, Helen, Keogh, Anne M, Macdonald, Peter S, Hayward, Christopher S, Seidman, J.G, Roberts, Amy E, Cook, Stuart A, Seidman, Christine E
Published in Progress in pediatric cardiology (01.03.2016)
Published in Progress in pediatric cardiology (01.03.2016)
Get full text
Journal Article
Congenital heart disease in children with Down's syndrome: Turkish experience of 13 years
Nisli, Kemal, Oner, Naci, Candan, Sukru, Kayserili, Hulya, Tansel, Turkan, Tireli, Emin, Karaman, Birsen, Omeroglu, Rukiye Eker, Dindar, Aygun, Aydogan, Umrah, Başaran, Seher, Ertugrul, Turkan
Published in Acta cardiologica (01.10.2008)
Published in Acta cardiologica (01.10.2008)
Get more information
Journal Article
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome
Uzumcu, Abdullah, Karaman, Birsen, Toksoy, Guven, Uyguner, Z. Oya, Candan, Sukru, Eris, Hacer, Tatli, Burak, Geckinli, Bilge, Yuksel, Adnan, Kayserili, Hulya, Basaran, Seher
Published in European journal of medical genetics (01.09.2009)
Published in European journal of medical genetics (01.09.2009)
Get full text
Journal Article
Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome
Uzumcu, Abdullah, Candan, Sukru, Toksoy, Guven, Uyguner, Z. Oya, Karaman, Birsen, Eris, Hacer, Tatli, Burak, Kayserili, Hulya, Yuksel, Adnan, Geckinli, Bilge, Yuksel-Apak, Memnune, Basaran, Seher
Published in Journal of genetics and genomics (01.04.2009)
Published in Journal of genetics and genomics (01.04.2009)
Get full text
Journal Article
Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome
Uzumcu, Abdullah, Candan, Sukru, Toksoy, Guven, Uyguner, Z Oya, Karaman, Birsen, Eris, Hacer, Tatli, Burak, Kayserili, Hulya, Yuksel, Adnan, Geckinli, Bilge, Yuksel-Apak, Memnune, Basaran, Seher
Published in Journal of genetics and genomics (01.04.2009)
Published in Journal of genetics and genomics (01.04.2009)
Get full text
Journal Article
Mutational screening of BASP1 and transcribed processed pseudogene TP[Psi]g-BASP1 in patients with Moebius syndrome
Uzumcu, Abdullah, Candan, Sukru, Toksoy, Guven, Uyguner, ZOya, Karaman, Birsen, Eris, Hacer, Tatli, Burak, Kayserili, Hulya, Yuksel, Adnan, Geckinli, Bilge, Yuksel-Apak, Memnune, Basaran, Seher
Published in Journal of genetics and genomics (01.04.2009)
Published in Journal of genetics and genomics (01.04.2009)
Get full text
Journal Article