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A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy Voinescu, Catalin D.; Mozere, Monika; Genovese, Giulio; Downie, Mallory L.; Gupta, Sanjana; Gale, Daniel P.; Bockenhauer, Detlef; Kleta, Robert; Arcos-Burgos, Mauricio; Stanescu, Horia C. 分享 收藏
Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome AHI1的常见风险变异与儿童类固醇敏感性肾病综合征相关 Downie, Mallory L.; Gupta, Sanjana; Voinescu, Catalin; Levine, Adam P.; Sadeghi-Alavijeh, Omid; Dufek-Kamperis, Stephanie; Cao, Jingjing; Christian, Martin; Kari, Jameela A.; Thalgahagoda, Shenal; Ranawaka, Randula; Abeyagunawardena, Asiri; Gbadegesin, Rasheed; Parekh, Rulan; Kleta, Robert; Bockenhauer, Detlef; Stanescu, Horia C.; Gale, Daniel P. 分享 收藏
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Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia 导致高胰岛素血症的磷酸突变酶2 (PMM2) 变体-多囊肾病与早发性炎症性肠病和胃窦小凹增生有关 Kiparissi, Fevronia; Dastamani, Antonia; Palm, Liina; Azabdaftari, Aline; Campos, Luis; Gaynor, Edward; Grunewald, Stephanie; Uhlig, Holm H.; Kleta, Robert; Boeckenhauer, Detlef; Jones, Kelsey D. J. 分享 收藏
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Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy Downie, Mallory L.; Gupta, Sanjana; Tekman, Mehmet C.; Cheshire, Chris; Arora, Steven; Licht, Christoph; Robinson, Lisa A.; Munoz, Marina; Aris, Alvaro Madrid; Al Attrach, Ibrahim; Brenchley, Paul E.; Gale, Daniel P.; Stanescu, Horia; Bockenhauer, Detlef; Kleta, Robert 分享 收藏
Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura Stubbs, Matthew J.; Coppo, Paul; Cheshire, Chris; Veyradier, Agnes; Dufek, Stephanie; Levine, Adam P.; Thomas, Mari; Patel, Vaksha; Connolly, John O.; Hubank, Michael; Benhamou, Ygal; Galicier, Lionel; Poullin, Pascale; Kleta, Robert; Gale, Daniel P.; Stanescu, Horia; Scully, Marie A. 分享 收藏
Long-term outcome in inherited nephrogenic diabetes insipidus (vol 12, sfy027, 2019) Sharma, Sonia; Ashton, Emma; Iancu, Daniela; Arthus, Marie-Francoise; Hayes, Wesley; van't Hoff, William; Kleta, Robert; Bichet, Daniel G.; Bockenhauer, Detlef 分享 收藏
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis Balogh, Eszter; Chandler, Jennifer C.; Varga, Mate; Tahoun, Mona; Menyhard, Dora K.; Schay, Gusztav; Goncalves, Tomas; Hamar, Renata; Legradi, Regina; Szekeres, Akos; Gribouval, Olivier; Kleta, Robert; Stanescu, Horia; Bockenhauer, Detlef; Kerti, Andrea; Williams, Hywel; Kinsler, Veronica; Di, Wei-Li; Curtis, David; Kolatsi-Joannou, Maria; Hammid, Hafsa; Szocs, Anna; Perczel, Kristof; Maka, Erika; Toldi, Gergely; Sava, Florentina; Arrondel, Christelle; Kardos, Magdolna; Fintha, Attila; Hossain, Ahmed; D'Arco, Felipe; Kaliakatsos, Mario; Koeglmeier, Jutta; Mifsud, William; Moosajee, Mariya; Faro, Ana; Javorszky, Eszter; Rudas, Gabor; Saied, Marwa H.; Marzouk, Salah; Kelen, Kata; Gotze, Judit; Reusz, George; Tulassay, Tivadar; Dragon, Francois; Mollet, Geraldine; Motameny, Susanne; Thiele, Holger; Dorval, Guillaume; Nurnberg, Peter; Perczel, Andras; Szabo, Attila J.; Long, David A.; Tomita, Kazunori; Antignac, Corinne; Waters, Aoife M.; Tory, Kalman 分享 收藏
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The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis Xie, Jingyuan; Liu, Lili; Mladkova, Nikol; Li, Yifu; Ren, Hong; Wang, Weiming; Cui, Zhao; Lin, Li; Hu, Xiaofan; Yu, Xialian; Xu, Jing; Liu, Gang; Caliskan, Yasar; Sidore, Carlo; Balderes, Olivia; Rosen, Raphael J.; Bodria, Monica; Zanoni, Francesca; Zhang, Jun Y.; Krithivasan, Priya; Mehl, Karla; Marasa, Maddalena; Khan, Atlas; Ozay, Fatih; Canetta, Pietro A.; Bomback, Andrew S.; Appel, Gerald B.; Sanna-Cherchi, Simone; Sampson, Matthew G.; Mariani, Laura H.; Perkowska-Ptasinska, Agnieszka; Durlik, Magdalena; Mucha, Krzysztof; Moszczuk, Barbara; Foroncewicz, Bartosz; Paczek, Leszek; Habura, Ireneusz; Ars, Elisabet; Ballarin, Jose; Mani, Laila-Yasmin; Vogt, Bruno; Ozturk, Savas; Yildiz, Abdulmecit; Seyahi, Nurhan; Arikan, Hakki; Koc, Mehmet; Basturk, Taner; Karahan, Gonca; Akgul, Sebahat Usta; Sever, Mehmet Sukru; Zhang, Dan; Santoro, Domenico; Bonomini, Mario; Londrino, Francesco; Gesualdo, Loreto; Reiterova, Jana; Tesar, Vladimir; Izzi, Claudia; Savoldi, Silvana; Spotti, Donatella; Marcantoni, Carmelita; Messa, Piergiorgio; Galliani, Marco; Roccatello, Dario; Granata, Simona; Zaza, Gianluigi; Lugani, Francesca; Ghiggeri, GianMarco; Pisani, Isabella; Allegri, Landino; Sprangers, Ben; Park, Jin-Ho; Cho, BeLong; Kim, Yon Su; Kim, Dong Ki; Suzuki, Hitoshi; Amoroso, Antonio; Cattran, Daniel C.; Fervenza, Fernando C.; Pani, Antonello; Hamilton, Patrick; Harris, Shelly; Gupta, Sanjana; Cheshire, Chris; Dufek, Stephanie; Issler, Naomi; Pepper, Ruth J.; Connolly, John; Powis, Stephen; Bockenhauer, Detlef; Stanescu, Horia C.; Ashman, Neil; Loos, Ruth J. F.; Kenny, Eimear E.; Wuttke, Matthias; Eckardt, Kai-Uwe; Koettgen, Anna; Hofstra, Julia M.; Coenen, Marieke J. H.; Kiemeney, Lambertus A.; Akilesh, Shreeram; Kretzler, Matthias; Beck, Lawrence H.; Stengel, Benedicte; Debiec, Hanna; Ronco, Pierre; Wetzels, Jack F. M.; Zoledziewska, Magdalena; Cucca, Francesco; Ionita-Laza, Iuliana; Lee, Hajeong; Hoxha, Elion; Stahl, Rolf A. K.; Brenchley, Paul; Scolari, Francesco; Zhao, Ming-hui; Gharavi, Ali G.; Kleta, Robert; Chen, Nan; Kiryluk, Krzysztof 分享 收藏
TRAP1 chaperone protein mutations and autoinflammation TRAP1伴侣蛋白突变与自身炎症 Standing, Ariane S., I; Hong, Ying; Paisan-Ruiz, Coro; Omoyinmi, Ebun; Medlar, Alan; Stanescu, Horia; Kleta, Robert; Rowcenzio, Dorota; Hawkins, Philip; Lachmann, Helen; McDermott, Michael F.; Eleftheriou, Despina; Klein, Nigel; Brogan, Paul A. 分享 收藏
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults 高通量测序有助于成人肾小管疾病和家族性高钙血症低钙尿症的诊断 Hureaux, Marguerite; Ashton, Emma; Dahan, Karin; Houillier, Pascal; Blanchard, Anne; Cormier, Catherine; Koumakis, Eugenie; Iancu, Daniela; Belge, Hendrica; Hilbert, Pascale; Rotthier, Annelies; Del Favero, Jurgen; Schaefer, Franz; Kleta, Robert; Bockenhauer, Detlef; Jeunemaitre, Xavier; Devuyst, Olivier; Walsh, Stephen B.; Vargas-Poussou, Rosa 分享 收藏
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A Marchesin, Valentina; Perez-Marti, Albert; Le Meur, Gwenn; Pichler, Roman; Grand, Kelli; Klootwijk, Enriko D.; Kesselheim, Anne; Kleta, Robert; Lienkamp, Soeren; Simons, Matias 分享 收藏
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood Adalat, Shazia; Hayes, Wesley N.; Bryant, William A.; Booth, John; Woolf, Adrian S.; Kleta, Robert; Subtil, Sandra; Clissold, Rhian; Colclough, Kevin; Ellare, Sian; Bockenhauer, Detlef 分享 收藏
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability Schlingmann, Karl P.; Bandulik, Sascha; Mammen, Cherry; Tarailo-Graovac, Maja; Holm, Rikke; Baumann, Matthias; Koenig, Jens; Lee, Jessica J. Y.; Drogemoller, Britt; Imminger, Katrin; Beck, Bodo B.; Altmueller, Janine; Thiele, Holger; Waldegger, Siegfried; van't Hoff, William; Kleta, Robert; Warth, Richard; van Karnebeek, Clara D. M.; Vilsen, Bente; Bockenhauer, Detlef; Konrad, Martin 分享 收藏
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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies 37个基因的同时测序确定了大多数患有肾小管疾病的儿童的致病突变 Ashton, Emma J.; Legrand, Anne; Benoit, Valerie; Roncelin, Isabelle; Venisse, Annabelle; Zennaro, Maria-Christina; Jeunemaitre, Xavier; Iancu, Daniela; van't Hoff, William G.; Walsh, Stephen B.; Godefroid, Nathalie; Rotthier, Annelies; Del Favero, Jurgen; Devuyst, Olivier; Schaefer, Franz; Jenkins, Lucy A.; Kleta, Robert; Dahan, Karin; Vargas-Poussou, Rosa; Bockenhauer, Detlef 分享 收藏
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