المؤلفون: Jochen Ehrich, Velibor Tasic, Vidar O. Edvardsson, Evgenia Preka, Larisa Prikhodina, Constantinos J. Stefanidis, Rezan Topaloglu, Diamant Shtiza, Ashot Sarkissian, Thomas Mueller-Sacherer, Rena Fataliyeva, Ina Kazyra, Elena Levtchenko, Danka Pokrajac, Dimitar Roussinov, Danko Milošević, Avraam Elia, Tomas Seeman, Mia Faerch, Inga Vainumae, Janne Kataja, Michel Tsimaratos, Irakli Rtskhiladze, Peter F. Hoyer, George Reusz, Atif Awan, Danny Lotan, Licia Peruzzi, Nazym Nigmatullina, Nasira Beishebaeva, Edite Jeruma, Augustina Jankauskiene, Olivier Niel, Valerie Said-Conti, Angela Ciuntu, Snežana Pavićević, Michiel Oosterveld, Anna Bjerre, Marcin Tkaczyk, Ana Teixeira, Adrian C. Lungu, Alexey Tsygin, Vesna Stojanović, Ludmila Podracka, Tanja Kersnik Levart, Mar Espino-Hernández, Per Brandström, Giuseppina Sparta, Harika Alpay, Dmytro Ivanov, Jan Dudley, Komiljon Khamzaev, Dieter Haffner

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: European child healthcare services, nephrology, achievements, needs, workforce, prevention, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1458003/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/952a8a136b03423eae7db72abd1086bf

المؤلفون: Velibor Tasic, Vidar O. Edvardsson, Evgenia Preka, Larisa Prikhodina, Constantinos J. Stefanidis, Rezan Topaloglu, Diamant Shtiza, Ashot Sarkissian, Thomas Mueller-Sacherer, Rena Fataliyeva, Ina Kazyra, Elena Levtchenko, Danka Pokrajac, Dimitar Roussinov, Danko Milošević, Avraam Elia, Tomas Seeman, Mia Faerch, Inga Vainumae, Janne Kataja, Michel Tsimaratos, Irakli Rtskhiladze, Peter F. Hoyer, George Reusz, Atif Awan, Danny Lotan, Licia Peruzzi, Nazim Nigmatullina, Nasira Beishebaeva, Edite Jeruma, Augustina Jankauskiene, Olivier Niel, Valerie Said-Conti, Angela Ciuntu, Snežana Pavićević, Michiel Oosterveld, Anna Bjerre, Marcin Tkaczyk, Ana Teixeira, Adrian C. Lungu, Alexey Tsygin, Vesna Stojanović, Ludmila Podracka, Tanja Kersnik Levart, Mar Espino-Hernández, Per Brandström, Giuseppina Sparta, Harika Alpay, Dmytro Ivanov, Jan Dudley, Komiljon Khamzaev, Dieter Haffner, Jochen Ehrich

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: pediatric nephrology, healthcare services, referral clinical pathways, urinary tract infections, nephrotic syndrome, acute kidney injury, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1327422/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/f14fb7b985dd4342a50d5e772886dda3

المؤلفون: Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y. Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A. E. van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simœs e Silva, Ruth J. F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/1df6c689ebb545a68dd4d7a57a5fefc6

المؤلفون: Elisabeth L. Metry, Sander F. Garrelfs, Hessel Peters-Sengers, Sally-Anne Hulton, Cecile Acquaviva, Justine Bacchetta, Bodo B. Beck, Laure Collard, Georges Deschênes, Casper Franssen, Markus J. Kemper, Graham W. Lipkin, Giorgia Mandrile, Nilufar Mohebbi, Shabbir H. Moochhala, Michiel J.S. Oosterveld, Larisa Prikhodina, Bernd Hoppe, Pierre Cochat, Jaap W. Groothoff

المصدر: Kidney International Reports, Vol 7, Iss 2, Pp 210-220 (2022)

مصطلحات موضوعية: combined liver-kidney transplantation, graft survival, primary hyperoxaluria, sequential liver-kidney transplantation, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468024921015126; https://doaj.org/toc/2468-0249

URL الوصول: https://doaj.org/article/b741147b79de4dfb83077c53198d2dea

المؤلفون: Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina

المصدر: BMC Nephrology, Vol 20, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Nephropathic cystinosis, Fanconi syndrome, CTNS, mRNA analysis, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12882-019-1589-2; https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/5f9219c6abe147369c8d32e14aeaa2dc

المؤلفون: Georgia Malakasioti, Daniela Iancu, Anastasiia Milovanova, Alexey Tsygin, Tomoko Horinouchi, China Nagano, Kandai Nozu, Koichi Kamei, Shuichiro Fujinaga, Kazumoto Iijima, Rajiv Sinha, Biswanath Basu, William Morello, Giovanni Montini, Aoife Waters, Olivia Boyer, Zeynep Yürük Yıldırım, Sibel Yel, İsmail Dursun, Hugh J. McCarthy, Marina Vivarelli, Larisa Prikhodina, Martine T.P. Besouw, Eugene Yu-hin Chan, Wenyan Huang, Markus J. Kemper, Sebastian Loos, Chanel Prestidge, William Wong, Galia Zlatanova, Rasmus Ehren, Lutz T. Weber, Hassib Chehade, Nakysa Hooman, Marcin Tkaczyk, Małgorzata Stańczyk, Michael Miligkos, Kjell Tullus

المصدر: Kidney International, 103(5), 962-972. ELSEVIER SCIENCE INC

مصطلحات موضوعية: monogenic steroid-resistant nephrotic syndrome, Nephrology, calcineurin inhibitors, kidney failure

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1f5fe17f4f65dd8ec93921bf7e5d2ca
https://doi.org/10.1016/j.kint.2023.02.022

المؤلفون: Lisa J. Deesker, Sander F. Garrelfs, Giorgia Mandrile, Michiel J.S. Oosterveld, Pierre Cochat, Georges Deschênes, Jérôme Harambat, Sally-Anne Hulton, Asheeta Gupta, Bernd Hoppe, Bodo B. Beck, Laure Collard, Rezan Topaloglu, Larisa Prikhodina, Eduardo Salido, Thomas Neuhaus, Jaap W. Groothoff, Justine Bacchetta

المساهمون: Graduate School, Paediatric Nephrology, APH - Methodology, APH - Quality of Care, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, Paediatrics

المصدر: Kidney International Reports, 7(7), 1608-1618. Elsevier Inc.

مصطلحات موضوعية: children, Nephrology, end-stage kidney disease, infantile oxalosis, primary hyperoxaluria, infant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c422b749989458ea98a6fdaf2d557f
https://doi.org/10.1016/j.ekir.2022.04.012

المؤلفون: Markus J. Kemper, Georges Deschênes, Laure Collard, Larisa Prikhodina, Hessel Peters-Sengers, Sander F. Garrelfs, Pierre Cochat, Justine Bacchetta, Elisabeth L. Metry, Shabbir H. Moochhala, Jaap W. Groothoff, Sally-Anne Hulton, Casper F. M. Franssen, Graham Lipkin, Nilufar Mohebbi, Cécile Acquaviva, Giorgia Mandrile, Bernd Hoppe, Michiel J. S. Oosterveld, Bodo B. Beck

المساهمون: Groningen Kidney Center (GKC), Paediatric Nephrology, Graduate School, APH - Methodology, APH - Quality of Care, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Epidemiology and Data Science, Center of Experimental and Molecular Medicine, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development

المصدر: Kidney International Reports, Vol 7, Iss 2, Pp 210-220 (2022)
Kidney International Reports, 7(2), 210-220. ELSEVIER SCIENCE INC
Kidney International Reports, 7(2), 210-220. Elsevier Inc.

مصطلحات موضوعية: medicine.medical_specialty, GENOTYPE-PHENOTYPE CORRELATION, graft survival, CHILDREN, DIAGNOSIS, Gastroenterology, SYSTEMIC OXALOSIS, Primary hyperoxaluria, combined liver-kidney transplantation, Internal medicine, medicine, LIVER-KIDNEY TRANSPLANTATION, STRATEGY, SEQUENTIAL LIVER, Kidney transplantation, Survival analysis, Kidney, sequential liver-kidney transplantation, urogenital system, business.industry, Proportional hazards model, medicine.disease, Diseases of the genitourinary system. Urology, PYRIDOXINE, Transplantation, LIVING DONOR, surgical procedures, operative, medicine.anatomical_structure, AGXT MUTATION, Nephrology, Kidney stones, RC870-923, Nephrocalcinosis, business, primary hyperoxaluria

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeb680725496cbc4e095b95a78e6eec0
http://www.sciencedirect.com/science/article/pii/S2468024921015126

المؤلفون: Alexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F. Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y Lim, Rik Westland, Francesca Zanoni, Maddalena Marasa, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L. Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A.E. van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R. Pollak, Ali Gharavi, Fangmin Lin, Ana Cristina Simœs e Silva, Ruth J.F. Loos, Eimear E. Kenny, Michiel F. Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Il Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew G. Sampson

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a675f9967e5fb542d7ca8887a5106993
https://doi.org/10.1101/2022.09.13.22279644

المؤلفون: Ramona Ajiri, Kathrin Burgmaier, Nurver Akinci, Ilse Broekaert, Anja Büscher, Ismail Dursun, Ali Duzova, Loai Akram Eid, Marc Fila, Michaela Gessner, Ibrahim Gokce, Laura Massella, Antonio Mastrangelo, Monika Miklaszewska, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Rina Rus, Lale Sever, Julia Thumfart, Lutz Thorsten Weber, Elke Wühl, Alev Yilmaz, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau

المساهمون: UCL - (SLuc) Département de pédiatrie, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Ajiri R., Burgmaier K., Akinci N., Broekaert I., Büscher A., Dursun I., Duzova A., Eid L. A., Fila M., Gessner M., et al.

المصدر: Kidney international reports, Vol. 7, no.7, p. 1643-1652 (2022)

مصطلحات موضوعية: Internal Diseases, LIVER, GENETICS, ARPKD, Medizin, CHILDREN, PKHD1, Sağlık Bilimleri, İç Hastalıkları, Clinical Medicine (MED), CONGENITAL HEPATIC-FIBROSIS, UROLOGY & NEPHROLOGY, Health Sciences, Fibrocystin, Klinik Tıp (MED), ÜROLOJİ VE NEFROLOJİ, PRENATAL-DIAGNOSIS, Internal Medicine Sciences, Klinik Tıp, RENAL-TRANSPLANTATION, MUTATIONS, PKD, Dahili Tıp Bilimleri, CLINICAL MEDICINE, Ciliopathies, Tıp, CLINICAL-EXPERIENCE, Nefroloji, Nephrology, DZIP1L, Medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aca8650535d01293c04d3b9def3d8b4
https://www.ncbi.nlm.nih.gov/pubmed/35812281

المؤلفون: Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M. Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset-Rouviere, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Lina Maria Serna Higuita, Alaleh Gheissari, Nazym Nigmatullina, Marcin Tkaczyk, Halina Borzecka, Radovan Bogdanovic, Sevgi Mir, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Cui-Hua Liu, Shu-Zhen Sun, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan

المساهمون: Institut Català de la Salut, [Drovandi S] Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany. Division of Nephrology, Dialysis and Transplantation, Department of Internal Medicine, Ospedale Policlinico San Martino and University of Genoa, Genoa, Italy. Division of Nephrology, Dialysis, Transplantation, Giannina Gaslini Children's Hospital, Genoa, Italy. [Lipska-Ziętkiewicz BS] Rare Diseases Centre, Medical University of Gdańsk, Gdańsk, Poland. Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdańsk, Gdańsk, Poland. [Ozaltin F, Gulhan B] Division of Pediatric Nephrology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. [Emma F] Department of Pediatric Subspecialties, Division of Nephrology and Dialysis, Bambino Gesù Childrens Hospital, IRCCS, Rome, Italy. [Boyer O] APHP, Necker-Enfants Malades Hospital, Pediatric Nephrology, MARHEA and SNI Reference Centers, Paris, France. Imagine Institute, Paris University, Paris, France. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Kidney Int. 102, 592-603 (2022)
Scientia

مصطلحات موضوعية: técnicas de investigación::técnicas genéticas::estudios de asociación genética [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Mitochondrial Diseases, Muscle Weakness, Nephrotic Syndrome, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Ubiquinone, Mitocondris - Malalties - Aspectes genètics, enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::nefrosis::síndrome nefrótico [ENFERMEDADES], Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Nephrosis::Nephrotic Syndrome [DISEASES], Nutritional and Metabolic Diseases::Metabolic Diseases::Mitochondrial Diseases [DISEASES], Ronyons - Malalties - Aspectes genètics, Coenzyme Q10, Mitochondria, Steroid-resistant Nephrotic Syndrome, Nephrology, Mutation, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Ataxia, Steroids, Investigative Techniques::Genetic Techniques::Genetic Association Studies [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades mitocondriales [ENFERMEDADES], Genetic Association Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e1e37391fef1cc876f8e121f4381fe
http://hdl.handle.net/10852/99032

المؤلفون: Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Lina Maria Serna Higuita, Alaleh Gheissari, Nazym Nigmatullina, Marcin Tkaczyk, Halina Borzecka, Radovan Bogdanovic, Sevgi Mir, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Cui-Hua Liu, Shu-Zhen Sun, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan

المصدر: Kidney International, 102, 3, pp. 604-612
Kidney Int. 102, 604-612 (2022)
Kidney International, 102, 604-612

مصطلحات موضوعية: Mitochondrial Diseases, Muscle Weakness, Nephrotic Syndrome, Ubiquinone, Coq2, Coq6, Coq8b, Coq(10) Supplementation Therapy, Eskd, Coenzyme Q(10) Deficiency, Genetic Kidney Disease, Hereditary, Kidney Survival, Outcome, Proteinuria Reduction, Kidney, Proteinuria, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Nephrology, Dietary Supplements, Mutation, Humans, Ataxia, Steroids

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84c27b3e90b69a46a805c20918a32ef
http://hdl.handle.net/10852/100389

المؤلفون: Carla, Burballa, Gerard, Cantero-Recasens, Larisa, Prikhodina, Francesca, Lugani, Karlpeter, Schlingmann, Petr V, Ananin, Martine, Besouw, Detlef, Bockenhauer, Leire, Madariaga, Aurelia, Bertholet-Thomas, Francesca, Taroni, Mattia, Parolin, Peter, Conlon, Dorella, Delprete, Dominique, Chauveau, Linda, Koster-Kamphuis, Marc, Fila, Andrea, Pasini, Isabel, Castro, Giacomo, Colussi, Marta, Gil, Barian, Mohidin, Tanja, Wlodkowski, Franz, Schaefer, Gema, Ariceta, Monica, Duran

المساهمون: Bacchetta, Justine, Paglialonga, Fabio, Murer, Luisa, Andersone, Ilze, Sayer, John A, Boyer, Olivia, Levart, Tanja Kersnik, Rus, Rina, Paripović, Dušan, Gonzalez, Esther Rubio, Nieto, Francisco, Zieg, Jakub, Caballero, José Ángel, Vara, Julia, Keijzer-Veen, Mandy, Ferraro, Pietro Manuel, Gonzalez, Ramon, Rotaeche, Ramon Maria Saracho, Fenoglio, Roberta, Ballesteros, Sandra Sanz, Lobo, Serafin Tallon, Ghuysen, Marie Sophie, Ordóñez Álvarez, Flor A, Vandyck, Maria, Rosenberg, Mai, Thorsteinsdottir, Hjørdis, Tasic, Velibor, Bayram, Meral Torun, Mir, Sevgi, Costea, George Claudiu, Yildiz, Nurdan, Lumbreras, Javier, Yel, Sibel, Čerkauskienė, Rimantė, La Manna, Angela, Elhassan, Elhussein, Ciurli, Francesca, Meseguer, Anna, Duran, Monica, Burballa C., Cantero-Recasens G., Prikhodina L., Lugani F., Schlingmann K., Ananin P. V. , Besouw M., Bockenhauer D., Madariaga L., Bertholet-Thomas A., et al.

المصدر: Nephrology dialysis transplantation, Oxford : Oxford University Press, 2023, vol. 38, iss. 6, p. 1497-1507
Nephrology, Dialysis, Transplantation, 38, 1497-1507
Nephrology, Dialysis, Transplantation, 38, 6, pp. 1497-1507

مصطلحات موضوعية: Transplantation, low-molecular-weight-proteinuria, All institutes and research themes of the Radboud University Medical Center, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], tubulopathy, Nephrology, nephrocalcinosis, CLCN5 gene, Dent’s disease 1 (DD1), clcn5 gene, dent's disease 1 (dd1), clcn5 gene, dent's disease 1 (dd1)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4faae0b874db4c1776378f0b22526ff0
https://hdl.handle.net/11577/3474373

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

مصطلحات موضوعية: Immune system, Intestinal mucosa, Immunology, medicine, SNP, Genome-wide association study, IRF8, Biology, urologic and male genital diseases, medicine.disease, Inflammatory bowel disease, Kidney disease, Nephropathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fd596edcd6b021f97171556b363ec458
https://doi.org/10.1101/2021.11.19.21265383

المؤلفون: Svetlana Papizh, Inna S. Povolotskaya, Larisa Prikhodina

المصدر: Nephrology Dialysis Transplantation. 36

مصطلحات موضوعية: Transplantation, medicine.medical_specialty, business.industry, Complete remission, medicine.disease, Gastroenterology, Steroid-resistant nephrotic syndrome, Calcineurin, Nephrology, Partial response, Internal medicine, Disease remission, medicine, Age of onset, business, Nephrotic syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d590f89dcdcc2243f9b6222e94c8694e
https://doi.org/10.1093/ndt/gfab108.0024

المؤلفون: Svetlana Papizh, E.A. Nikolaeva, Larisa Prikhodina

المصدر: Nephrology Dialysis Transplantation. 36

مصطلحات موضوعية: Transplantation, medicine.medical_specialty, business.industry, Urinary system, chemistry.chemical_element, Heterozygote advantage, Calcium, Phosphate, medicine.disease, chemistry.chemical_compound, Endocrinology, medicine.anatomical_structure, chemistry, Nephrology, Internal medicine, Mutation (genetic algorithm), medicine, Alkaline phosphatase, Hypercalciuria, Distal convoluted tubule, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f164be9a4e0407c06b281a0acbc7cfee
https://doi.org/10.1093/ndt/gfab080.0026

المؤلفون: Alper Soylu, Elke Wühl, Max C. Liebau, Guillaume Dorval, Wanja Bernhardt, Rukshana Shroff, Salim Caliskan, Laura Massella, Gordana Miloševski-Lomić, Ludwig Patzer, Juan David Gonzalez Rodriguez, Klaus Zerres, Katarzyna Taranta-Janusz, Francisco de la Cerda Ojeda, Bahriye Atmis, Bodo B. Beck, Jens König, Nadejda Ranguelov, Claudia Kowalewska, Jörg Dötsch, Florian Erger, Augustina Jankauskiene, Alberto Caldas Afonso, Markus Feldkoetter, Svetlana Papizh, Olivia Boyer, Jérôme Harambat, Franziska Grundmann, Matthias Galiano, Jun Oh, Claire Dossier, Jacques Lombet, Dieter Haffner, Gema Ariceta, Raphael Schild, Ismail Dursun, Ibrahim Gökce, Stella Stabouli, Marcus R. Benz, Rina Rus, Martin Bald, Michaela Gessner, Mieczysław Litwin, Neveen A. Soliman, Djalila Mekahli, Francesco Emma, Nurver Akinci, Loai A. Eid, Cengiz Candan, Alev Yilmaz, Anja Buescher, Lale Sever, Barbara Uetz, Julia Thumfart, Donald Wurm, Beata Bienias, Nadina Ortiz-Bruechle, Ali Duzova, Germana Longo, Przemysław Sikora, Oliver Gross, Susanne Schaefer, Yılmaz Tabel, Sabine Ponsel, Karsten Häffner, Franz Schaefer, Antonio Mastrangelo, Ana Teixeira, Bruno Ranchin, Günter Klaus, Maria Szczepańska, Claudia Dafinger, Andreea Rachisan, Monika Miklaszewska, Aurélie De Mul, Hulya Nalcacioglu, Sevgi Mir, Denis Morin, Katarzyna Zachwieja, Bärbel Lange-Sperandio, William Morello, Marc Fila, Jan Halbritter, Houweyda Jilani, Ute Derichs, Aurelia Morawiec-Knysak, Laure Collard, Małgorzata Stańczyk, Felix Lechner, Francesca Mencarelli, Jakub Zieg, Oliver Dunand, Klaus Arbeiter, Kathrin Burgmaier, Carsten Bergmann, Ilona Zagozdzon, Tomáš Seeman, Larisa Prikhodina, Nakysa Hooman, Lutz T. Weber, Björn Buchholz, Leonie Brinker, Nathalie Godefroid, Simone Wygoda, Hagen Staude

المساهمون: UCL - (SLuc) Service de pédiatrie générale

المصدر: Kidney international, Vol. 100, no.3, p. 650-659 (2021)

مصطلحات موضوعية: 0301 basic medicine, fibrocystin, 030232 urology & nephrology, Fibrocystin, fibrocystic hepatorenal disease, Receptors, Cell Surface, Disease, Kidney, Ciliopathies, 03 medical and health sciences, 0302 clinical medicine, Ultrasound, Polycystic kidney disease, medicine, Missense mutation, Humans, Child, Genetic Association Studies, Polycystic Kidney, Autosomal Recessive, Genetics, polycystic kidney disease, biology, PKD, Cilium, Protein, cilia, Encodes, medicine.disease, Phenotype, Autosomal Recessive Polycystic Kidney Disease, 030104 developmental biology, Nephrology, Child, Preschool, Mutation, biology.protein, ciliopathies, Mutations

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8d4bc309906dd46993a944c7188b5c
https://hdl.handle.net/20.500.12831/6664

المؤلفون: Yukio Yuzawa, Alexandra Cambier, Norishige Yoshikawa, Biage Su, Aikaterini Papagianni, Xuhui Zhong, Ulla Berg, Licia Peruzzi, Motoshi Hattori, Caihong Zeng, Thomas Robert, Jie Ding, Rezan Topaloglu, Sean J. Barbour, Francesca Diomedi Camassei, Ian Roberts, Yihui Zhai, Robert J. Wyatt, Shoji Kagami, Maki Urushihara, Ritsuko Katafuchi, Małgorzata Mizerska-Wasiak, Koichi Nakanishi, Francesco Emma, Larisa Prikhodina, Antonella Barreca, Maria Luisa Russo, Lee Er, Rosanna Coppo, Hong Xu, Daniel C. Cattran, Shubha Bellur, Zhihong Liu

المصدر: Kidney international. 99(6)

مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Adolescent, 030232 urology & nephrology, Renal function, Nephropathy, 03 medical and health sciences, 0302 clinical medicine, Glomerulonephritis, Internal medicine, medicine, Humans, Child, Survival analysis, Retrospective Studies, Disease trajectory, business.industry, Disease progression, Glomerulonephritis, IGA, medicine.disease, 3. Good health, 030104 developmental biology, Nephrology, Cohort, Disease Progression, Kidney Failure, Chronic, business, Clinical risk factor, Glomerular Filtration Rate

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0c37785385f7cec84a380dbee335ec9
https://pubmed.ncbi.nlm.nih.gov/33220356

المؤلفون: Zilya Bashirova, Natalia Sherbakova, Inna S. Povolotskaya, Tatjana Lepaeva, Larisa Prikhodina

المصدر: Nephrology Dialysis Transplantation. 35

مصطلحات موضوعية: Transplantation, medicine.medical_specialty, Denys–Drash syndrome, Kidney, medicine.diagnostic_test, business.industry, Gonadoblastoma, medicine.disease, Frasier syndrome, Steroid-resistant nephrotic syndrome, Endocrinology, medicine.anatomical_structure, Nephrology, Internal medicine, Biopsy, Medicine, Pseudohermaphroditism, business, Nephrotic syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::79e48f47fcf2994f1788213c32c3aaf6
https://doi.org/10.1093/ndt/gfaa142.p1818

المؤلفون: Svetlana Papizh, Larisa Prikhodina

المصدر: Nephrology Dialysis Transplantation. 35

مصطلحات موضوعية: Transplantation, medicine.medical_specialty, Nephrology, business.industry, Internal medicine, medicine, medicine.disease, business, HNF1B, Nephropathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dd6d5809cb23039e7267e716aa71b2ff
https://doi.org/10.1093/ndt/gfaa142.p0042