المؤلفون: 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

المصدر: Kidney International (2024) (In press).

مصطلحات موضوعية: Chronic kidney disease, membranous nephropathy, nephrotic syndrome

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10187510/1/1-s2.0-S0085253824000735-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10187510Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10187510/1/1-s2.0-S0085253824000735-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10187510Test/

المؤلفون: Voinescu, Cătălin D., Mozere, Monika, Genovese, Giulio, Downie, Mallory L., Gupta, Sanjana, Gale, Daniel P., Bockenhauer, Detlef, Kleta, Robert, Arcos-Burgos, Mauricio, Stanescu, Horia C.

المساهمون: Saint Peter's Trust for Kidney Bladder and Prostate Research, Kidney Research UK

المصدر: Kidney International ; volume 105, issue 4, page 791-798 ; ISSN 0085-2538

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.kint.2024.01.017Test
https://api.elsevier.com/content/article/PII:S0085253824000735?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0085253824000735?httpAccept=text/plainTest

المؤلفون: Oz-Levi, Danit, Olender, Tsviya, Bar-Joseph, Ifat, Zhu, Yiwen, Marek-Yagel, Dina, Barozzi, Iros, Osterwalder, Marco, Alkelai, Anna, Ruzzo, Elizabeth K, Han, Yujun, Vos, Erica SM, Reznik-Wolf, Haike, Hartman, Corina, Shamir, Raanan, Weiss, Batia, Shapiro, Rivka, Pode-Shakked, Ben, Tatarskyy, Pavlo, Milgrom, Roni, Schvimer, Michael, Barshack, Iris, Imai, Denise M, Coleman-Derr, Devin, Dickel, Diane E, Nord, Alex S, Afzal, Veena, van Bueren, Kelly Lammerts, Barnes, Ralston M, Black, Brian L, Mayhew, Christopher N, Kuhar, Matthew F, Pitstick, Amy, Tekman, Mehmet, Stanescu, Horia C, Wells, James M, Kleta, Robert, de Laat, Wouter, Goldstein, David B, Pras, Elon, Visel, Axel, Lancet, Doron, Anikster, Yair, Pennacchio, Len A

المصدر: Nature. 571(7763)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Digestive Diseases, Biotechnology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Oral and gastrointestinal, Animals, Chromosomes, Human, Pair 16, Diarrhea, Disease Models, Animal, Enhancer Elements, Genetic, Female, Gene Expression Regulation, Developmental, Genes, Genes, Reporter, Genetic Loci, Humans, Intestines, Male, Mice, Mice, Knockout, Mice, Transgenic, Pedigree, Phenotype, Sequence Deletion, Transcriptional Activation, Transcriptome, Transgenes, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6dn666prTest

المؤلفون: 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.

المصدر: Downie , M L , Gupta , S , Voinescu , C , Levine , A P , Sadeghi-Alavijeh , O , Dufek-Kamperis , S , Cao , J , Christian , M , Kari , J A , Thalgahagoda , S , Ranawaka , R , Abeyagunawardena , A , Gbadegesin , R , Parekh , R , Kleta , R , Bockenhauer , D , Stanescu , H C & Gale , D P 2023 , ' Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome ' , Kidney international reports , vol. ....

مصطلحات موضوعية: AHI1, GWAS, HLA, pediatric nephrology, SSNS

العلاقة: https://pure.au.dk/portal/en/publications/6e0fe6e3-b5fc-4f4e-a502-83aba25448b9Test

الإتاحة: https://doi.org/10.1016/j.ekir.2023.05.018Test
https://pure.au.dk/portal/en/publications/6e0fe6e3-b5fc-4f4e-a502-83aba25448b9Test
http://www.scopus.com/inward/record.url?scp=85163302357&partnerID=8YFLogxKTest

المؤلفون: Issler, Naomi, Afonso, Sara, Weissman, Irith, Jordan, Katrin, Cebrian-Serrano, Alberto, Meindl, Katrin, Dahlke, Eileen, Tziridis, Konstantin, Yan, Guanhua, Robles-López, José M., Tabernero, Lydia, Patel, Vaksha, Kesselheim, Anne, Klootwijk, Enriko D., Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Tekman, Mehmet, Mozere, Monika, Jaureguiberry, Graciana, Outtandy, Priya, Russell, Claire, Forst, Anna-Lena, Sterner, Christina, Heinl, Elena-Sofia, Othmen, Helga, Tegtmeier, Ines, Reichold, Markus, Schiessl, Ina Maria, Limm, Katharina, Oefner, Peter, Witzgall, Ralph, Fu, Lifei, Theilig, Franziska, Schilling, Achim, Shuster Biton, Efrat, Kalfon, Limor, Fedida, Ayalla, Arnon-Sheleg, Elite, Ben Izhak, Ofer, Magen, Daniella, Anikster, Yair, Schulze, Holger, Ziegler, Christine, Lowe, Martin, Davies, Benjamin, Böckenhauer, Detlef, Kleta, Robert, Falik Zaccai, Tzipora C., Warth, Richard

مصطلحات موضوعية: 570 Biowissenschaften, Biologie, ddc:570

وصف الملف: application/pdf

العلاقة: https://epub.uni-regensburg.de/52334/1/Publikationsrechnung_Dartmouth_Warth.pdfTest; Issler, Naomi, Afonso, Sara, Weissman, Irith, Jordan, Katrin, Cebrian-Serrano, Alberto, Meindl, Katrin, Dahlke, Eileen, Tziridis, Konstantin, Yan, Guanhua, Robles-López, José M., Tabernero, Lydia, Patel, Vaksha, Kesselheim, Anne, Klootwijk, Enriko D., Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Tekman, Mehmet, Mozere, Monika, Jaureguiberry, Graciana, Outtandy, Priya, Russell, Claire, Forst, Anna-Lena, Sterner, Christina, Heinl, Elena-Sofia, Othmen, Helga, Tegtmeier, Ines, Reichold, Markus, Schiessl, Ina Maria, Limm, Katharina, Oefner, Peter, Witzgall, Ralph , Fu, Lifei, Theilig, Franziska, Schilling, Achim, Shuster Biton, Efrat, Kalfon, Limor, Fedida, Ayalla, Arnon-Sheleg, Elite, Ben Izhak, Ofer, Magen, Daniella, Anikster, Yair, Schulze, Holger, Ziegler, Christine, Lowe, Martin, Davies, Benjamin, Böckenhauer, Detlef, Kleta, Robert, Falik Zaccai, Tzipora C. und Warth, Richard (2022) A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Journal of the American Society of Nephrology 33 (4), S. 732-745.

الإتاحة: https://doi.org/10.1681/ASN.2021101312Test
https://epub.uni-regensburg.de/52334Test/
https://epub.uni-regensburg.de/52334/1/Publikationsrechnung_Dartmouth_Warth.pdfTest
https://jasn.asnjournals.org/content/33/4/732Test

المؤلفون: Chan, Melanie Mai Yee, Sadeghi-Alavijeh, Omid, Lopes, Filipa M, Hilger, Alina C, Stanescu, Horia C, Voinescu, Catalin D, Beaman, Glenda M, Newman, William G, Zaniew, Marcin, Weber, Stefanie, Ho, Yee Mang, Connolly, John O, Wood, Dan, Maj, Carlo, Stuckey, Alexander, Kousathanas, Athanasios, Genomics England Research Consortium, Kleta, Robert, Woolf, Adrian S, Bockenhauer, Detlef, Levine, Adam P, Gale, Daniel P

المصدر: eLife , 11 , Article e74777. (2022)

مصطلحات موضوعية: developmental biology, genetics, genomics, human

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10156363/1/Chan_Diverse%20ancestry%20whole-genome%20sequencing%20association%20study%20identifies%20TBX5%20and%20PTK7%20as%20susceptibility%20genes%20for%20posterior%20urethral%20valves_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10156363Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10156363/1/Chan_Diverse%20ancestry%20whole-genome%20sequencing%20association%20study%20identifies%20TBX5%20and%20PTK7%20as%20susceptibility%20genes%20for%20posterior%20urethral%20valves_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10156363Test/

المؤلفون: Chan, Melanie MY, Sadeghi-Alavijeh, Omid, Lopes, Filipa M, Hilger, Alina C, Stanescu, Horia C, Voinescu, Catalin D, Beaman, Glenda M, Newman, William G, Zaniew, Marcin, Weber, Stefanie, Ho, Yee Mang, Connolly, John O, Wood, Dan, Maj, Carlo, Stuckey, Alexander, Kousathanas, Athanasios, Kleta, Robert, Woolf, Adrian S, Bockenhauer, Detlef, Levine, Adam P, Gale, Daniel P

المساهمون: Kidney Research UK, Medical Research Council, St Peter’s Trust for Kidney Bladder & Prostate Research, National Institute for Health and Care Research, BONFOR-Gerok Grant

المصدر: eLife ; volume 11 ; ISSN 2050-084X

الإتاحة: https://doi.org/10.7554/elife.74777Test
https://cdn.elifesciences.org/articles/74777/elife-74777-v2.pdfTest
https://cdn.elifesciences.org/articles/74777/elife-74777-v2.xmlTest
https://elifesciences.org/articles/74777Test

المؤلفون: 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, Pączek, Leszek, Habura, Ireneusz, Ars, Elisabet, Ballarin, Jose, Mani, Laila-Yasmin, Vogt, Bruno, Ozturk, Savas, Yildiz, Abdülmecit, 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, Köttgen, 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

المساهمون: 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, Atla, 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, Pączek, Leszek, Habura, Ireneusz, Ars, Elisabet, Ballarin, Jose, Mani, Laila-Yasmin, Vogt, Bruno, Ozturk, Sava, Yildiz, Abdülmecit, 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, Chri, 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, Matthia, Eckardt, Kai-Uwe, Köttgen, Anna, Hofstra, Julia M, Coenen, Marieke J H, Kiemeney, Lambertus A

مصطلحات موضوعية: genetics, membranous nephropahty, GWAS, HLA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32231244; info:eu-repo/semantics/altIdentifier/wos/WOS:000563559600001; volume:11; issue:1; firstpage:1600; lastpage:1618; numberofpages:19; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/2318/1735042Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082558400

الإتاحة: https://doi.org/10.1038/s41467-020-15383-wTest
http://hdl.handle.net/2318/1735042Test

المؤلفون: Dufek, Stephanie, Cheshire, Chris, Levine, Adam P, Trompeter, Richard S, Issler, Naomi, Stubbs, Matthew, Mozere, Monika, Gupta, Sanjana, Klootwijk, Enriko, Patel, Vaksha, Hothi, Daljit, Waters, Aoife, Webb, Hazel, Tullus, Kjell, Jenkins, Lucy, Godinho, Lighta, Levtchenko, Elena, Wetzels, Jack, Knoers, Nine, Teeninga, Nynke, Nauta, Jeroen, Shalaby, Mohamed, Eldesoky, Sherif, Kari, Jameela A, Thalgahagoda, Shenal, Ranawaka, Randula, Abeyagunawardena, Asiri, Adeyemo, Adebowale, Kristiansen, Mark, Gbadegesin, Rasheed, Webb, Nicholas J, Gale, Daniel P, Stanescu, Horia C, Kleta, Robert, Bockenhauer, Detlef

المصدر: Dufek , S , Cheshire , C , Levine , A P , Trompeter , R S , Issler , N , Stubbs , M , Mozere , M , Gupta , S , Klootwijk , E , Patel , V , Hothi , D , Waters , A , Webb , H , Tullus , K , Jenkins , L , Godinho , L , Levtchenko , E , Wetzels , J , Knoers , N , Teeninga , N , Nauta , J , Shalaby , M , Eldesoky , S , Kari , J A , ....

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/ed74a7ff-896f-48ff-bebe-da3d8da84d3bTest

الإتاحة: https://doi.org/10.1681/ASN.2018101054Test
https://hdl.handle.net/11370/ed74a7ff-896f-48ff-bebe-da3d8da84d3bTest
https://research.rug.nl/en/publications/ed74a7ff-896f-48ff-bebe-da3d8da84d3bTest
https://pure.rug.nl/ws/files/93765916/Genetic_Identification_of_Two_Novel_Loci_Associated_with_Steroid_Sensitive_Nephrotic_Syndrome.pdfTest

المؤلفون: Reichold, Markus, Klootwijk, Enriko D., Reinders, Joerg, Otto, Edgar A., Milani, Mario, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J., Dettmer, Katja, Simbuerger, Johann M., Witzgall, Ralph, Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B., Gale, Daniel P., Howie, Alexander J., Martins, Joana R., Hall, Andrew M., Kasgharian, Michael, O’Brien, Kevin, Ferreira, Carlos R., Atwal, Paldeep S., Jain, Mahim, Hammers, Alexander, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N., Pugh, Christopher, Konecki, David S., Povey, Sue, Bockenhauer, Detlef, Lichter-Konecki, Uta

المصدر: Journal of the American Society of Nephrology ; volume 29, issue 7, page 1849-1858 ; ISSN 1046-6673 1533-3450

الإتاحة: https://doi.org/10.1681/asn.2017111179Test
https://journals.lww.com/00001751-201807000-00011Test