المؤلفون: Mariniello, Marta, Schiano, Guglielmo, Yoshifuji, Ayumi, Gillion, Valentine, Sayer, John Andrew, Jouret, François, Genkyst Study Group, Le Meur, Yannick, Cornec-Le Gall, Emilie, Olinger, Eric Gregory, Devuyst, Olivier

المصدر: Mariniello, Marta; Schiano, Guglielmo; Yoshifuji, Ayumi; Gillion, Valentine; Sayer, John Andrew; Jouret, François; Genkyst Study Group; Le Meur, Yannick; Cornec-Le Gall, Emilie; Olinger, Eric Gregory; Devuyst, Olivier (2024). Uromodulin processing in DNAJB11-kidney disease. Kidney International, 105(2):376-380.

مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/252242/1/1_s2.0_S0085253823007858_main.pdfTest; info:pmid/38016513; urn:issn:0085-2538

الإتاحة: https://doi.org/10.5167/uzh-25224210.1016/j.kint.2023.11.008Test
https://www.zora.uzh.ch/id/eprint/252242Test/
https://www.zora.uzh.ch/id/eprint/252242/1/1_s2.0_S0085253823007858_main.pdfTest

المؤلفون: Anderegg, Manuel A, Olinger, Eric G, Bargagli, Matteo, Geraghty, Rob, Taylor, Lea, Nater, Alexander, Bruggmann, Rémy, Sayer, John A, Vogt, Bruno, Schaller, André, Fuster, Daniel G

المصدر: Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/195097Test/

الإتاحة: https://doi.org/10.1093/ndt/gfae074Test
https://boris.unibe.ch/195097/1/brainsci-14-00194.pdfTest
https://boris.unibe.ch/195097Test/

المؤلفون: Olinger, Eric, Wilson, Ian J., Orr, Sarah, Barroso-Gil, Miguel, Neatu, Ruxandra, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander

المساهمون: Kidney Research UK, Swiss National Science Foundation, Northern Counties Kidney Research Fund, LifeArc, Medical Research Council

المصدر: Genetics in Medicine Open ; volume 2, page 101834 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101834Test
https://api.elsevier.com/content/article/PII:S2949774424009804?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424009804?httpAccept=text/plainTest

المؤلفون: Gillion, Valentine, Devresse, Arnaud, Olinger, Eric, Dahlqvist, Géraldine, Demoulin, Nathalie, Godefroid, Nathalie, Claes, Kathleen, Devuyst, Olivier, Kanaan, Nada

المصدر: Kidney International Reports ; volume 9, issue 3, page 549-568 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2023.12.003Test
https://api.elsevier.com/content/article/PII:S246802492301625X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S246802492301625X?httpAccept=text/plainTest

المؤلفون: Schiano, Guglielmo, Lake, Jennifer, Mariniello, Marta, Schaeffer, Céline, Harvent, Marianne, Rampoldi, Luca, Olinger, Eric, Devuyst, Olivier

المصدر: Schiano, Guglielmo; Lake, Jennifer; Mariniello, Marta; Schaeffer, Céline; Harvent, Marianne; Rampoldi, Luca; Olinger, Eric; Devuyst, Olivier (2023). Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease. EMBO Molecular Medicine:e18242.

مصطلحات موضوعية: Institute of Physiology, Center for Microscopy and Image Analysis, 610 Medicine & health, 570 Life sciences, biology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/239166/1/EMMM_15_e18242.pdfTest; info:pmid/37885358; urn:issn:1757-4676

الإتاحة: https://doi.org/10.5167/uzh-23916610.15252/emmm.202318242Test
https://www.zora.uzh.ch/id/eprint/239166Test/
https://www.zora.uzh.ch/id/eprint/239166/1/EMMM_15_e18242.pdfTest

المؤلفون: Claus, Laura R., Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L., Slaats, Gisela, Hawks, Alexandra L., Mabillard, Holly, Senum, Sarah R., Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J., Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S., Dorresteijn, Eiske M., Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R., Obeidová, Lena, Seeman, Tomas, Stone, Hillarey K., Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A., Ammerlaan, Carola ME., Rookmaaker, Maarten B., Hanna, Christian, Rogers, R. Curtis, Duran, Karen, Peters, Edith, Sayer, John A., van Haaften, Gijs, Harris, Peter C., Ling, Kun, Mason, Jennifer M., van Eerde, Albertien M., Steet, Richard

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (MGD) Service de néphrologie

المصدر: Kidney International, Vol. 104, no. 5, p. 995-1007 (2023)

مصطلحات موضوعية: Nephrology

العلاقة: boreal:277435; http://hdl.handle.net/2078.1/277435Test; urn:ISSN:0085-2538

الإتاحة: https://doi.org/10.1016/j.kint.2023.07.021Test
http://hdl.handle.net/2078.1/277435Test

المؤلفون: Gillion, Valentine, Devresse, Arnaud, Olinger, Eric, Dahlqvist, Géraldine, Demoulin, Nathalie, Godefroid, Nathalie, Claes, Kathleen, Devuyst, Olivier, Kanaan, Nada

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (MGD) Service de néphrologie, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de transplantation, UCL - (SLuc) Service de néphrologie pédiatrique

المصدر: Kidney International Reports, (2023)

مصطلحات موضوعية: Nephrology

العلاقة: boreal:282009; http://hdl.handle.net/2078.1/282009Test; urn:ISSN:2468-0249

الإتاحة: https://doi.org/10.1016/j.ekir.2023.12.003Test
http://hdl.handle.net/2078.1/282009Test

المؤلفون: Devuyst, Olivier, Olinger, Eric, Köttgen, Anna

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL

المصدر: The New England journal of medicine, Vol. 388, no.13, p. e47 (2023)

مصطلحات موضوعية: Humans, Gout

العلاقة: boreal:282681; http://hdl.handle.net/2078.1/282681Test; info:pmid/36988609; urn:EISSN:1533-4406

الإتاحة: https://doi.org/10.1056/NEJMc2216467Test
http://hdl.handle.net/2078.1/282681Test

المؤلفون: Mariniello, Marta, Schiano, Guglielmo, Yoshifuji, Ayumi, Gillion, Valentine, Sayer, John Andrew, Jouret, François, Genkyst Study Group, Le Meur, Yannick, Cornec-Le Gall, Emilie, Olinger, Eric Gregory, Devuyst, Olivier

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie

المصدر: Kidney international, (2023)

مصطلحات موضوعية: ADPKD, ADTKD, chaperone, secretory pathway, uromodulin

العلاقة: boreal:280835; http://hdl.handle.net/2078.1/280835Test; info:pmid/38016513; urn:EISSN:1523-1755

الإتاحة: https://doi.org/10.1016/j.kint.2023.11.008Test
http://hdl.handle.net/2078.1/280835Test

المؤلفون: Orr, Sarah, Olinger, Eric, Iosifidou, Sotia, Barroso‐Gil, Miguel, Neatu, Ruxandra, Wood, Katrina, Wilson, Ian, Sayer, John Andrew

المساهمون: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Kidney Research UK, Northern Counties Kidney Research Fund

المصدر: Annals of Human Genetics ; volume 88, issue 1, page 76-85 ; ISSN 0003-4800 1469-1809

الإتاحة: https://doi.org/10.1111/ahg.12508Test