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

Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review

短暂性新生儿糖尿病作为HNF1B相关疾病的早期诊断线索——两例病例报告及文献综述

Kołbuc, Marcin; Bednarek, Paweł; Motyka, Rafał; Jarmoliński, Tomasz; Michalak-Kloc, Marzena; Beck, Bodo B; Urbańska-Kosińska, Małgorzata; Zaniew, Marcin

CLINICAL EPIDEMIOLOGY OF THE EFFECT OF NOVEL HYPNOTICS ON PRESCRIBING CHANGES IN PATIENTS USING BENZODIAZEPINE RECEPTOR AGONISTS

新型催眠药对使用苯二氮卓受体激动剂患者处方变化的影响的临床流行病学研究

Kiryluk, Krzysztof; Sanchez-Rodriguez, Elena; Zhou, Xu-Jie; Zanoni, Francesca; Liu, Lili; Mladkova, Nikol; Khan, Atlas; Marasa, Maddalena; Zhang, Jun Y; Balderes, Olivia; Sanna-Cherchi, Simone; Bomback, Andrew S; Canetta, Pietro A; Appel, Gerald B; Radhakrishnan, Jai; Trimarchi, Hernan; Sprangers, Ben; Cattran, Daniel C; Reich, Heather; Pei, York; Ravani, Pietro; Galesic, Kresimir; Maixnerova, Dita; Tesar, Vladimir; Stengel, Benedicte; Metzger, Marie; Canaud, Guillaume; Maillard, Nicolas; Berthoux, Francois; Berthelot, Laureline; Pillebout, Evangeline; Monteiro, Renato; Nelson, Raoul; Wyatt, Robert J; Smoyer, William; Mahan, John; Samhar, Al-Akash; Hidalgo, Guillermo; Quiroga, Alejandro; Weng, Patricia; Sreedharan, Raji; Selewski, David; Davis, Keefe; Kallash, Mahmoud; Vasylyeva, Tetyana L; Rheault, Michelle; Chishti, Aftab; Ranch, Daniel; Wenderfer, Scott E; Samsonov, Dmitry; Claes, Donna J; Akchurin, Oleh; Goumenos, Dimitrios; Stangou, Maria; Nagy, Judit; Kovacs, Tibor; Fiaccadori, Enrico; Amoroso, Antonio; Barlassina, Cristina; Cusi, Daniele; Del Vecchio, Lucia; Battaglia, Giovanni Giorgio; Bodria, Monica; Boer, Emanuela; Bono, Luisa; Boscutti, Giuliano; Caridi, Gianluca; Lugani, Francesca; Ghiggeri, GianMarco; Coppo, Rosanna; Peruzzi, Licia; Esposito, Vittoria; Esposito, Ciro; Feriozzi, Sandro; Polci, Rosaria; Frasca, Giovanni; Galliani, Marco; Garozzo, Maurizio; Mitrotti, Adele; Gesualdo, Loreto; Granata, Simona; Zaza, Gianluigi; Londrino, Francesco; Magistroni, Riccardo; Pisani, Isabella; Magnano, Andrea; Marcantoni, Carmelita; Messa, Piergiorgio; Mignani, Renzo; Pani, Antonello; Ponticelli, Claudio; Roccatello, Dario; Salvadori, Maurizio; Salvi, Erica; Santoro, Domenico; Gembillo, Guido; Savoldi, Silvana; Spotti, Donatella; Zamboli, Pasquale; Izzi, Claudia; Alberici, Federico; Delbarba, Elisa; Florczak, Michał; Krata, Natalia; Mucha, Krzysztof; Pączek, Leszek; Niemczyk, Stanisław; Moszczuk, Barbara; Pańczyk-Tomaszewska, Malgorzata; Mizerska-Wasiak, Malgorzata; Perkowska-Ptasińska, Agnieszka; Bączkowska, Teresa; Durlik, Magdalena; Pawlaczyk, Krzysztof; Sikora, Przemyslaw; Zaniew, Marcin; Kaminska, Dorota; Krajewska, Magdalena; Kuzmiuk-Glembin, Izabella; Heleniak, Zbigniew; Bullo-Piontecka, Barbara; Liberek, Tomasz; Dębska-Slizien, Alicja; Hryszko, Tomasz; Materna-Kiryluk, Anna; Miklaszewska, Monika; Szczepańska, Maria; Dyga, Katarzyna; Machura, Edyta; Siniewicz-Luzeńczyk, Katarzyna; Pawlak-Bratkowska, Monika; Tkaczyk, Marcin; Runowski, Dariusz; Kwella, Norbert; Drożdż, Dorota; Habura, Ireneusz; Kronenberg, Florian; Prikhodina, Larisa; van Heel, David; Fontaine, Bertrand; Cotsapas, Chris; Wijmenga, Cisca; Franke, Andre; Annese, Vito; Gregersen, Peter K; Parameswaran, Sreeja; Weirauch, Matthew; Kottyan, Leah; Harley, John B; Suzuki, Hitoshi; Narita, Ichiei; Goto, Shin; Lee, Hajeong; Kim, Dong Ki; Kim, Yon Su; Park, Jin-Ho; Cho, BeLong; Choi, Murim; Van Wijk, Ans; Huerta, Ana; Ars, Elisabet; Ballarin, Jose; Lundberg, Sigrid; Vogt, Bruno; Mani, Laila-Yasmin; Caliskan, Yasar; Barratt, Jonathan; Abeygunaratne, Thilini; Kalra, Philip A; Gale, Daniel P; Panzer, Ulf; Rauen, Thomas; Floege, Jürgen; Schlosser, Pascal; Ekici, Arif B; Eckardt, Kai-Uwe; Chen, Nan; Xie, Jingyuan; Lifton, Richard P; Loos, Ruth J F; Kenny, Eimear E; Ionita-Laza, Iuliana; Köttgen, Anna; Julian, Bruce A; Novak, Jan; Scolari, Francesco; Zhang, Hong; Gharavi, Ali G; Ayani, *Nobutaka John; Kurokawa, Takuya; Matsumoto, Yoshihiro; Oya, Nozomu; Kitaoka, Riki; Yokoi, Takato; Narumoto, Jin

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

FLNA ROD1 and ROD2 Domains are Implicated in Congenital Lower Urinary Tract Obstruction

FLNA ROD1 和 ROD2 结构域与先天性下尿路梗阻有关

Vidic, Clara; Stegmann, Jil; Bendixen, Charlotte; Schneider, Sophia; Hahn, Daniel; Felger, Tim; Hofmann, Aybike; Rösch, Wolfgang; Schröder, Tabea; Zaniew, Marcin; Polok, Marcin; Sikora, Przemysław; Zachwieja, Katarzyna; Miklaszewska, Monika; Krzemien, Grazyna; Tkaczyk, Marcin; Hofmann, Hannah; Kilis-Pstrusinska, Katarzyna; Krebs, Wolfgang; Chan, Melanie; Wölfle, Joachim; Galiano, Matthias; Hilger, Alina C

Dent disease: clinical practice recommendations

牙科疾病:临床实践建议

Bökenkamp, Arend; Ariceta, Gema; Böckenhauer, Detlef; Devuyst, Olivier; Emma, Francesco; van Bennekom, David; Levtchenko, Elena; Sayer, John; Servais, Aude; Vargas, Rosa; Zaniew, Marcin; Prikhodina, Larisa

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

携带 HNF1B 变异和 17q12 染色体微缺失患者的肾脏和肾外表型

Buffin-Meyer, Bénédicte; Richard, Juliette; Guigonis, Vincent; Weber, Stefanie; König, Jens; Heidet, Laurence; Moussaoui, Nabila; Vu, Jeanne-Pierrette; Faguer, Stanislas; Casemayou, Audrey; Prakash, Richa; Baudouin, Véronique; Hogan, Julien; Alexandrou, Demi; Bockenhauer, Detlef; Bacchetta, Justine; Ranchin, Bruno; Pruhova, Stepanka; Zieg, Jakub; Lahoche, Annie; Okorn, Christine; Antal-Kónya, Violetta; Morin, Denis; Becherucci, Francesca; Habbig, Sandra; Liebau, Max C; Mauras, Mathilde; Nijenhuis, Tom; Llanas, Brigitte; Mekahli, Djalila; Thumfart, Julia; Tönshoff, Burkhard; Massella, Laura; Eckart, Philippe; Cloarec, Sylvie; Cruz, Alejandro; Patzer, Ludwig; Roussey, Gwenaelle; Vrillon, Isabelle; Dunand, Olivier; Bessenay, Lucie; Taroni, Francesca; Zaniew, Marcin; Louillet, Ferielle; Bergmann, Carsten; Schaefer, Franz; van Eerde, Albertien M; Schanstra, Joost P; Decramer, Stéphane

Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract

开发一种用于预测患有先天性肾脏和泌尿系统畸形的儿童和青少年HNF1B基因突变的工具

Kołbuc, Marcin; Kołek, Mateusz F; Motyka, Rafał; Bieniaś, Beata; Habbig, Sandra; Burgmaier, Kathrin; Prikhodina, Larisa; Papizh, Svetlana; Tasic, Velibor; Okorn, Christine; Szczepańska, Maria; Kiliś-Pstrusińska, Katarzyna; Wasilewska, Anna; Adamczyk, Piotr; Tkaczyk, Marcin; Pańczyk-Tomaszewska, Małgorzata; Miklaszewska, Monika; Pawlaczyk, Krzysztof; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Jankauskiene, Augustina; König, Jens; Cheong, Hae Il; Ahn, Yo Han; Kaspar, Sophie; Sikora, Przemysław; Beck, Bodo B; Zaniew, Marcin

Genome-wide studies define new genetic mechanisms of IgA vasculitis

全基因组研究揭示了IgA血管炎的新遗传机制

Liu, Lili; Zhu, Li; Monteiro-Martins, Sara; Griffin, Aaron; Vlahos, Lukas J; Fujita, Masashi; Berrouet, Cecilia; Zanoni, Francesca; Marasa, Maddalena; Zhang, Jun Y; Zhou, Xu-Jie; Caliskan, Yasar; Akchurin, Oleh; Al-Akash, Samhar; Jankauskiene, Augustina; Bodria, Monica; Chishti, Aftab; Esposito, Ciro; Esposito, Vittoria; Claes, Donna; Tesar, Vladimir; Davis, Thomas K; Samsonov, Dmitry; Kaminska, Dorota; Hryszko, Tomasz; Zaza, Gianluigi; Flynn, Joseph T; Iorember, Franca; Lugani, Francesca; Rizk, Dana; Julian, Bruce A; Hidalgo, Guillermo; Kallash, Mahmoud; Biancone, Luigi; Amoroso, Antonio; Bono, Luisa; Mani, Laila-Yasmin; Vogt, Bruno; Lin, Fangming; Sreedharan, Raji; Weng, Patricia; Ranch, Daniel; Xiao, Nianzhou; Quiroga, Alejandro; Matar, Raed Bou; Rheault, Michelle N; Wenderfer, Scott; Selewski, Dave; Lundberg, Sigrid; Silva, Cynthia; Mason, Sherene; Mahan, John D; Vasylyeva, Tetyana L; Mucha, Krzysztof; Foroncewicz, Bartosz; Pączek, Leszek; Florczak, Michał; Olszewska, Małgorzata; Gradzińska, Agnieszka; Szczepańska, Maria; Machura, Edyta; Badeński, Andrzej; Krakowczyk, Helena; Sikora, Przemysław; Kwella, Norbert; Miklaszewska, Monika; Drożdż, Dorota; Zaniew, Marcin; Pawlaczyk, Krzysztof; SiniewiczLuzeńczyk, Katarzyna; Bomback, Andrew S; Appel, Gerald B; Izzi, Claudia; Scolari, Francesco; Materna-Kiryluk, Anna; Mizerska-Wasiak, Malgorzata; Berthelot, Laureline; Pillebout, Evangeline; Monteiro, Renato C; Novak, Jan; Green, Todd Jason; Smoyer, William E; Hastings, M Colleen; Wyatt, Robert J; Nelson, Raoul; Martin, Javier; González-Gay, Miguel A; De Jager, Philip L; Köttgen, Anna; Califano, Andrea; Gharavi, Ali G; Zhang, Hong; Kiryluk, Krzysztof

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

罕见单核苷酸变异和拷贝数变异与先天性梗阻性尿路疾病的病因:对基因诊断的启示

Ahram, Dina F; Lim, Tze Y; Ke, Juntao; Jin, Gina; Verbitsky, Miguel; Bodria, Monica; Kil, Byum Hee; Chatterjee, Debanjana; Piva, Stacy E; Marasa, Maddalena; Zhang, Jun Y; Cocchi, Enrico; Caridi, Gianluca; Gucev, Zoran; Lozanovski, Vladimir J; Pisani, Isabella; Izzi, Claudia; Savoldi, Gianfranco; Gnutti, Barbara; Capone, Valentina P; Morello, William; Guarino, Stefano; Esposito, Pasquale; Lambert, Sarah; Radhakrishnan, Jai; Appel, Gerald B; Uy, Natalie S; Rao, Maya K; Canetta, Pietro A; Bomback, Andrew S; Nestor, Jordan G; Hays, Thomas; Cohen, David J; Finale, Carolina; Wijk, Joanna A E van; La Scola, Claudio; Baraldi, Olga; Tondolo, Francesco; Di Renzo, Dacia; Jamry-Dziurla, Anna; Pezzutto, Alessandro; Manca, Valeria; Mitrotti, Adele; Santoro, Domenico; Conti, Giovanni; Martino, Marida; Giordano, Mario; Gesualdo, Loreto; Zibar, Lada; Masnata, Giuseppe; Bonomini, Mario; Alberti, Daniele; La Manna, Gaetano; Caliskan, Yasar; Ranghino, Andrea; Marzuillo, Pierluigi; Kiryluk, Krzysztof; Krzemień, Grażyna; Miklaszewska, Monika; Lin, Fangming; Montini, Giovanni; Scolari, Francesco; Fiaccadori, Enrico; Arapović, Adela; Saraga, Marijan; McKiernan, James; Alam, Shumyle; Zaniew, Marcin; Szczepańska, Maria; Szmigielska, Agnieszka; Sikora, Przemysław; Drożdż, Dorota; Mizerska-Wasiak, Malgorzata; Mane, Shrikant; Lifton, Richard P; Tasic, Velibor; Latos-Bielenska, Anna; Gharavi, Ali G; Ghiggeri, Gian Marco; Materna-Kiryluk, Anna; Westland, Rik; Sanna-Cherchi, Simone