日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

NPHS2 Revisited Through 208 Cases and Podocin Complex Modeling

通过 208 个病例和足细胞蛋白复合物建模重新审视 NPHS2

Mertens, Nils David; Nicolas Frank, Camille; Bolsius, Leah; Shril, Shirlee; Majmundar, Amar J; Huber, Tobias B; Hildebrandt, Friedhelm; Buerger, Florian

Exome analysis links kidney malformations to developmental disorders and reveals causal genes

外显子组分析将肾脏畸形与发育障碍联系起来,并揭示了致病基因。

Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O; Coughlin, Arielle C; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J; Caliskan, Yasar; Goldstein, David; Lifton, Richard P; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G

Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes

作者更正:外显子组分析将肾脏畸形与发育障碍联系起来,并揭示了致病基因

Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O; Coughlin, Arielle C; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J; Caliskan, Yasar; Goldstein, David; Lifton, Richard P; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G

Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

TRPC6相关足细胞病的自然史和临床病理学关联

Wooden, Benjamin; Beenken, Andrew; Martinelli, Elena; Saida, Ken; Knob, Andrea L; Ke, Juntao; Pisani, Isabella; Jin, Gina; Lane, Brandon; Mitrotti, Adele; Colby, Elizabeth; Lim, Tze Y; Guglielmi, Francesca; Osborne, Amy J; Ahram, Dina F; Wang, Chen; Armand, Farid; Zanoni, Francesca; Bomback, Andrew S; Delsante, Marco; Appel, Gerald B; Ferrari, Massimo R A; Martino, Jeremiah; Sahdeo, Sunil; Breckenridge, David; Petrovski, Slavé; Paul, Dirk S; Hall, Gentzon; Magistroni, Riccardo; Murtas, Corrado; Feriozzi, Sandro; Rampino, Teresa; Esposito, Pasquale; Helmuth, Margaret E; Sampson, Matthew G; Kretzler, Matthias; Kiryluk, Krzysztof; Shril, Shirlee; Gesualdo, Loreto; Maggiore, Umberto; Fiaccadori, Enrico; Gbadegesin, Rasheed; Santoriello, Dominick; D'Agati, Vivette D; Saleem, Moin A; Gharavi, Ali G; Hildebrandt, Friedhelm; Pollak, Martin R; Goldstein, David B; Sanna-Cherchi, Simone

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

三重外显子组测序在19.62%的先天性肾脏和泌尿道畸形(CAKUT)家族中发现了新的候选基因中的新生变异。

Merz, Lea Maria; Kolvenbach, Caroline M; Wang, Chunyan; Mertens, Nils David; Seltzsam, Steve; Mansour, Bshara; Zheng, Bixia; Schneider, Sophia; Schierbaum, Luca; Hölzel, Selina; Salmanullah, Daanya; Pantel, Dalia; Kalkar, Gina; Connaughton, Dervla M; Mann, Nina; Wu, Chen-Han Wilfred; Kause, Franziska; Nakayama, Makiko; Dai, Rufeng; Schneider, Ronen; Buerger, Florian; Nicolas-Frank, Camille; Yousef, Kirollos; Lemberg, Katharina; Saida, Ken; Yu, Seyoung; Elmubarak, Izzeldin; Franken, Gijs A C; Lomjansook, Kraisoon; Braun, Alina; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed A; Kari, Jameela A; Ooda, Said; Fathy, Hanan M; Soliman, Neveen A; Nabhan, Marwa; Abdelrahman, Safaa; Hilger, Alina C; Mane, Shrikant M; Ferguson, Michael A; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort

沙特阿拉伯儿童肾脏疾病单中心队列的外显子组测序

Lemberg, Katharina; Shalaby, Mohamed A; Zion, Elena; Saida, Ken; Yousef, Kirollos; Schneider, Ronen; Mertens, Nils D; Mansour, Bshara; Kolvenbach, Caroline M; Merz, Lea M; Riedhammer, Korbinian M; Braun, Alina; Hölzel, Selina; Yu, Seyoung; Lomjansook, Kraisoon; Kalkar, Gina; Marchuk, Daniel; Elmubarak, Izzeldin; Franken, Gijs A C; Shril, Shirlee; El Desoky, Sherif; Kari, Jameela A; Buerger, Florian; Hildebrandt, Friedhelm

Phenotypic quantification of Nphs1-deficient mice

Nphs1缺陷小鼠的表型定量分析

Schneider, Ronen; Mansour, Bshara; Kolvenbach, Caroline M; Buerger, Florian; Salmanullah, Daanya; Lemberg, Katharina; Merz, Lea M; Mertens, Nils D; Saida, Ken; Yousef, Kirollos; Franken, Gijs A C; Bao, Aaron; Yu, Seyoung; Hölzel, Selina; Nicolas-Frank, Camille; Steinsapir, Andrew; Goncalves, Kevin A; Shril, Shirlee; Hildebrandt, Friedhelm

Genetic Contributions to Lower Urinary Tract Dysfunction

遗传因素对下尿路功能障碍的影响

Lilian R Hiltebeitel ,Steve Seltzsam ,Chunyan Wang ,Ted Lee ,Leah Bolsius ,Mohamed Shalaby ,Sherif El Desoky ,Jameela A Kari ,Shirlee Shril ,Friedhelm Hildebrandt ,Nina Mann

CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis

PRPF8、DYRK2 和 CEP78 中的 CAKUT 变异:对剪接和纤毛发生的影响

Merz, Lea M; Shril, Shirlee; Carrocci, Tucker J; Rezi, Csenge K; Zeps, Natalie J; Jiménez-Izquierdo, Rafael; Bergmann, Florian; Petriman, Narcis Adrian; Kolvenbach, Caroline M; Mertens, Nils D; Johansen, Søren L; Halbritter, Jan; Hilger, Alina Christine; Mohiuddin, Shaikh Qureshi Wasay; Hentges, Kathryn E; Rasouly, Hila Milo; Gharavi, Ali G; Yoshida, Kiyotsugu; Lorentzen, Esben; Calzado, Marco; Kispert, Andreas; Yoshida, Saishu; Pedersen, Lotte B; Hoskins, Aaron A; Buerger, Florian; Hildebrandt, Friedhelm

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

利用三重外显子组测序扩大了候选基因的范围,并在320个激素抵抗性肾病综合征家族中27.5%的病例中鉴定出单基因病因。

Schneider, Ronen; Shril, Shirlee; Buerger, Florian; Deutsch, Konstantin; Yousef, Kirollos; Frank, Camille N; Onuchic-Whitford, Ana C; Kitzler, Thomas M; Mao, Youying; Klämbt, Verena; Zahoor, Muhammad Y; Lemberg, Katharina; Majmundar, Amar J; Mansour, Bshara; Saida, Ken; Seltzsam, Steve; Kolvenbach, Caroline M; Merz, Lea Maria; Mertens, Nils D; Hermle, Tobias; Mann, Nina; Pantel, Dalia; Halawi, Abdul A; Bao, Aaron; Schierbaum, Luca; Schneider, Sophia; Salmanullah, Daanya; Ben-Dov, Iddo Z; Sagiv, Itamar; Eid, Loai A; Awad, Hazem Subhi H; Al Saffar, Muna; Soliman, Neveen A; Nabhan, Marwa M; Kari, Jameela A; El Desoky, Sherif; Shalaby, Mohamed A; Ooda, Said; Fathy, Hanan M; Mane, Shrikant; Lifton, Richard P; Somers, Michael J G; Hildebrandt, Friedhelm