Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications

Por Rossetti, Sandro, Strmecki, Lana, Gamble, Vicki, Burton, Sarah, Sneddon, Vicky, Peral, Belén, Roy, Sushmita, Bakkaloglu, Aysin, Komel, Radovan, Winearls, Christopher G., Harris, Peter C.
Publicado em 2001

Genetic basis of cystinosis in Turkish patients: a single-center experience

Por Topaloglu, Rezan, Vilboux, Thierry, Coskun, Turgay, Ozaltin, Fatih, Tinloy, Brad, Gunay-Aygun, Meral, Bakkaloglu, Aysin, Besbas, Nesrin, van den Heuvel, Lambert, Kleta, Robert, Gahl, William A.
Publicado em 2011

Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34

Por Karet, Fiona E., Finberg, Karin E., Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A., Sanjad, Sami A., Al-Sabban, Essam A., Medina, Juan F., Lifton, Richard P.
Publicado em 1999

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Por Choi, Murim, Scholl, Ute I., Ji, Weizhen, Liu, Tiewen, Tikhonova, Irina R., Zumbo, Paul, Nayir, Ahmet, Bakkaloğlu, Ayșin, Özen, Seza, Sanjad, Sami, Nelson-Williams, Carol, Farhi, Anita, Mane, Shrikant, Lifton, Richard P.
Publicado em 2009

Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

Por Ozaltin, Fatih, Ibsirlioglu, Tulin, Taskiran, Ekim Z., Baydar, Dilek Ertoy, Kaymaz, Figen, Buyukcelik, Mithat, Kilic, Beltinge Demircioglu, Balat, Ayse, Iatropoulos, Paraskevas, Asan, Esin, Akarsu, Nurten A., Schaefer, Franz, Yilmaz, Engin, Bakkaloglu, Ayşin
Publicado em 2011

The Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) Study: Objectives, Design, and Methodology

Por Querfeld, Uwe, Anarat, Ali, Bayazit, Aysun K., Bakkaloglu, Aysin S., Bilginer, Yelda, Caliskan, Salim, Civilibal, Mahmut, Doyon, Anke, Duzova, Ali, Kracht, Daniela, Litwin, Mieczyslaw, Melk, Anette, Mir, Sevgi, Sözeri, Betül, Shroff, Rukshana, Zeller, René, Wühl, Elke, Schaefer, Franz
Publicado em 2010

SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development

Por Weber, Stefanie, Taylor, Jaclyn C., Winyard, Paul, Baker, Kari F., Sullivan-Brown, Jessica, Schild, Raphael, Knüppel, Tanja, Zurowska, Aleksandra M., Caldas-Alfonso, Alberto, Litwin, Mieczyslaw, Emre, Sevinc, Ghiggeri, Gian Marco, Bakkaloglu, Aysin, Mehls, Otto, Antignac, Corinne, Network, Escape, Schaefer, Franz, Burdine, Rebecca D.
Publicado em 2008

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN

Por Ozaltin, Fatih, Li, Binghua, Rauhauser, Alysha, An, Sung-Wan, Soylemezoglu, Oguz, Gonul, Ipek Isik, Taskiran, Ekim Z., Ibsirlioglu, Tulin, Korkmaz, Emine, Bilginer, Yelda, Duzova, Ali, Ozen, Seza, Topaloglu, Rezan, Besbas, Nesrin, Ashraf, Shazia, Du, Yong, Liang, Chaoying, Chen, Phylip, Lu, Dongmei, Vadnagara, Komal, Arbuckle, Susan, Lewis, Deborah, Wakeland, Benjamin, Quigg, Richard J., Ransom, Richard F., Wakeland, Edward K., Topham, Matthew K., Bazan, Nicolas G., Mohan, Chandra, Hildebrandt, Friedhelm, Bakkaloglu, Aysin, Huang, Chou-Long, Attanasio, Massimo
Publicado em 2013

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Por Heeringa, Saskia F., Chernin, Gil, Chaki, Moumita, Zhou, Weibin, Sloan, Alexis J., Ji, Ziming, Xie, Letian X., Salviati, Leonardo, Hurd, Toby W., Vega-Warner, Virginia, Killen, Paul D., Raphael, Yehoash, Ashraf, Shazia, Ovunc, Bugsu, Schoeb, Dominik S., McLaughlin, Heather M., Airik, Rannar, Vlangos, Christopher N., Gbadegesin, Rasheed, Hinkes, Bernward, Saisawat, Pawaree, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, Vanessa, Giorgi, Gianpietro, Prokisch, Holger, Rötig, Agnès, Nürnberg, Gudrun, Becker, Christian, Wang, Su, Ozaltin, Fatih, Topaloglu, Rezan, Bakkaloglu, Aysin, Bakkaloglu, Sevcan A., Müller, Dominik, Beissert, Antje, Mir, Sevgi, Berdeli, Afig, ϖzen, Seza, Zenker, Martin, Matejas, Verena, Santos-Ocaña, Carlos, Navas, Placido, Kusakabe, Takehiro, Kispert, Andreas, Akman, Sema, Soliman, Neveen A., Krick, Stefanie, Mundel, Peter, Reiser, Jochen, Nürnberg, Peter, Clarke, Catherine F., Wiggins, Roger C., Faul, Christian, Hildebrandt, Friedhelm
Publicado em 2011