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收藏DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN
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 分享 收藏 分享 收藏 Disruption of PTPRO Causes Childhood-Onset Nephrotic SyndromePTPRO的破坏导致儿童期发作的肾病综合征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, Aysin 分享 收藏 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessHeeringa, 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; Roetig, Agnes; Nuernberg, Gudrun; Becker, Christian; Wang, Su; Ozaltin, Fatih; Topaloglu, Rezan; Bakkaloglu, Aysin; Bakkaloglu, Sevcan A.; Mueller, Dominik; Beissert, Antje; Mir, Sevgi; Berdeli, Afig; Ozen, Seza; Zenker, Martin; Matejas, Verena; Santos-Ocana, Carlos; Navas, Placido; Kusakabe, Takehiro; Kispert, Andreas; Akman, Sema; Soliman, Neveen A.; Krick, Stefanie; Mundel, Peter; Reiser, Jochen; Nuernberg, Peter; Clarke, Catherine F.; Wiggins, Roger C.; Faul, Christian; Hildebrandt, Friedhelm 分享 收藏 The Cardiovascular Comorbidity in Children with Chronic Kidney Disease (4C) Study: Objectives, Design, and MethodologyQuerfeld, Uwe; Anarat, All; Bayazit, Aysun K.; Bakkaloglu, Aysin S.; Bilginer, Yelda; Caliskan, Salim; Civilibal, Mahrnut; Doyon, Anke; Duzova, Ali; Kracht, Daniela; Litwin, Mieczyslaw; Melk, Anette; Mir, Sevgi; Sozeri, Betul; Shroff, Rukshana; Zeller, Rene; Wuehl, Elke; Schaefer, Franz 分享 收藏 EULAR/PRINTO/PRES criteria for Henoch-Schonlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria过敏性紫癜，儿童结节性多动脉炎，儿童韦格纳肉芽肿病和儿童Takayasu动脉炎的EULAR/prtin/PRES标准: 安卡拉2008。第二部分: 最终分类标准Ozen, Seza; Pistorio, Angela; Iusan, Silvia M.; Bakkaloglu, Aysin; Herlin, Troels; Brik, Riva; Buoncompagni, Antonella; Lazar, Calin; Bilge, Ilmay; Uziel, Yosef; Rigante, Donato; Cantarini, Luca; Hilario, Maria Odete; Silva, Clovis A.; Alegria, Mauricio; Norambuena, Ximena; Belot, Alexandre; Berkun, Yackov; Estrella, Amparo Ibanez; Olivieri, Alma Nunzia; Alpigiani, Maria Giannina; Rumba, Ingrida; Sztajnbok, Flavio; Tambic-Bukovac, Lana; Breda, Luciana; Al-Mayouf, Sulaiman; Mihaylova, Dimitrina; Chasnyk, Vyacheslav; Sengler, Claudia; Klein-Gitelman, Maria; Djeddi, Djamal; Nuno, Laura; Pruunsild, Chris; Brunner, Jurgen; Kondi, Anuela; Pagava, Karaman; Pederzoli, Silvia; Martini, Alberto; Ruperto, Nicolino 分享 收藏 分享 收藏 Genetic diagnosis by whole exome capture and massively parallel DNA sequencing通过全外显子组捕获和大规模并行DNA测序进行遗传诊断Choi, Murim; Scholl, Ute I.; Ji, Weizhen; Liu, Tiewen; Tikhonova, Irina R.; Zumbo, Paul; Nayir, Ahmet; Bakkaloglu, Aysin; Ozen, Seza; Sanjad, Sami; Nelson-Williams, Carol; Farhi, Anita; Mane, Shrikant; Lifton, Richard P. 分享 收藏 分享 收藏 分享 收藏 SIX2 and BMP4 mutations associate with anomalous kidney developmentWeber, Stefanie; Taylor, Jaclyn C.; Winyard, Paul; Baker, Kari F.; Sullivan-Brown, Jessica; Schild, Raphael; Knueppel, 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. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleHinkes, Bernward; Wiggins, Roger C.; Gbadegesin, Rasheed; Vlangos, Christopher N.; Seelow, Dominik; Nuernberg, Gudrun; Garg, Puneet; Verma, Rakesh; Chaib, Hassan; Hoskins, Bethan E.; Ashraf, Shazia; Becker, Christian; Hennies, Hans Christian; Goyal, Meera; Wharram, Bryan L.; Schachter, Asher D.; Mudumana, Sudha; Drummond, Iain; Kerjaschki, Dontscho; Waldherr, Ruediger; Dietrich, Alexander; Ozaltin, Fatih; Bakkaloglu, Aysin; Cleper, Roxana; Basel-Vanagaite, Lina; Pohl, Martin; Griebel, Martin; Tsygin, Alexey N.; Soylu, Alper; Mueller, Dominik; Sorli, Caroline S.; Bunney, Tom D.; Katan, Matilda; Liu, Jinhong; Attanasio, Massimo; O'Toole, John F.; Hasselbacher, Katrin; Mucha, Bettina; Otto, Edgar A.; Airik, Rannar; Kispert, Andreas; Kelley, Grant G.; Smrcka, Alan V.; Gudermann, Thomas; Holzman, Lawrence B.; Nuernberg, Peter; Hildebrandt, Friedhelm 分享 收藏 Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disordersHasselbacher, K.; Wiggins, R. C.; Matejas, V.; Hinkes, B. G.; Mucha, B.; Hoskins, B. E.; Ozaltin, F.; Nuernberg, G.; Becker, C.; Hangan, D.; Pohl, M.; Kuwertz-Broeking, E.; Griebel, M.; Schumacher, V.; Royer-Pokora, B.; Bakkaloglu, A.; Nuernberg, P.; Zenker, M.; Hildebrandt, F. 分享 收藏 Mutations in uroplakin IIIA are a rare cause of renal hypodysplasia in humansSchoenfelder, Eva-Maria; Knueppel, Tanja; Tasic, Velibor; Miljkovic, Predrag; Konrad, Martin; Wuehl, Elke; Antignac, Corinne; Bakkaloglu, Aysin; Schaefer, Franz; Weber, Stefanie 分享 收藏 
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