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Resultats globals: 2 registres trobats en 0.02 segons.
Articles, 2 registres trobats
Articles 2 registres trobats  
1.
13 p, 1.9 MB Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome / Barry, Alexandra (Broad Institute of MIT and Harvard) ; McNulty, Michelle T. (Broad Institute of MIT and Harvard) ; Jia, Xiaoyuan (The University of Tokyo) ; Gupta, Yask (Columbia University College of Physicians and Surgeons) ; Debiec, Hanna (Institut National de la Santé et de la Recherde Médicale) ; Luo, Yang (Broad Institute of MIT and Harvard) ; Nagano, China (Kobe University Graduate School of Medicine) ; Horinouchi, Tomoko (Kobe University Graduate School of Medicine) ; Jung, Seulgi (University of Ulsan College of Medicine) ; Colucci, Manuela (Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Pediatrico Bambino Gesù) ; Ahram, Dina F. (Columbia University College of Physicians and Surgeons) ; Mitrotti, Adele (University of Bari Aldo Moro) ; Sinha, Aditi (AIIMS) ; Teeninga, Nynke (Radboud University Medical Center) ; Jin, Gina (Columbia University College of Physicians and Surgeons) ; Shril, Shirlee (Harvard Medical School) ; Caridi, Gianluca (IRCCS Instituto Giannina Gaslini) ; Bodria, Monica (IRCCS Instituto Giannina Gaslini) ; Lim, Tze Y. (Columbia University College of Physicians and Surgeons) ; Westland, Rik (Amsterdam UMC. University Medical Center) ; Zanoni, Francesca (University of Pennsylvania) ; Marasa, Maddalena (Columbia University College of Physicians and Surgeons) ; Turudic, Daniel (University of Zagreb Medical School) ; Giordano, Mario (Bari Polyclinic Giovanni XXIII Children's Hospital) ; Gesualdo, Loreto (University of Bari Aldo Moro) ; Magistroni, Riccardo (University of Modena and Reggio Emilia) ; Pisani, Isabella (Università di Parma) ; Fiaccadori, Enrico (Università di Parma) ; Reiterova, Jana (Charles University) ; Maringhini, Silvio (ISMETT) ; Morello, William (Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico) ; Montini, Giovanni (University of Milan) ; Weng, Patricia L. (UCLA Medical Center and UCLA Medical Center-Santa Monica) ; Scolari, Francesco (University of Brescia and ASST Spedali Civili of Brescia) ; Saraga, Marijan (University of Split) ; Tasic, Velibor (University Children's Hospital Macedonia) ; Santoro, Domenica (University of Messina) ; van Wijk, Joanna A. E. (Amsterdam UMC. University Medical Center) ; Milošević, Danko (Croatian Academy of Medical Sciences) ; Kawai, Yosuke (The University of Tokyo) ; Kiryluk, Krzysztof (Columbia University College of Physicians and Surgeons) ; Pollak, Martin R. (Columbia University Irving Medical Center New York-Presbyterian Morgan Stanley Children's Hospital in New York) ; Gharavi, Ali (Columbia University College of Physicians and Surgeons) ; Lin, Fangmin (Columbia University Irving Medical Center New York-Presbyterian Morgan Stanley Children's Hospital in New York) ; Simœs e Silva, Ana Cristina (Federal University of Minas Gerais) ; Loos, Ruth J. F. (Icahn School of Medicine at Mount Sinai) ; Kenny, Eimear E. (Icahn School of Medicine at Mount Sinai) ; Schreuder, Michiel F. (Radboud University Medical Center) ; Zurowska, Aleksandra (Medical University Gdansk.) ; Dossier, Claire (Hôpital Robert-Debré) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Drozynska-Duklas, Magdalena (Medical University Gdansk) ; Hogan, Julien (Hôpital Robert-Debré) ; Jankauskiene, Augustina (Vilnius University) ; Hildebrandt, Friedhelm (Harvard Medical School) ; Prikhodina, Larisa (Pirogov Russian National Research Medical University) ; Song, Kyuyoung (University of Ulsan College of Medicine) ; Bagga, Arvind (AIIMS) ; Cheong, Hae (Hallym University Sacred Heart Hospital) ; Ghiggeri, Gian Marco (IRCCS Instituto Giannina Gaslini) ; Vachvanichsanong, Prayong (Prince of Songkla University) ; Nozu, Kandai (Kobe University Graduate School of Medicine) ; Lee, Dongwon (Harvard Medical School) ; Vivarelli, Marina (Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Pediatrico Bambino Gesù) ; Raychaudhuri, Soumya (University of Manchester) ; Tokunaga, Katsushi (The University of Tokyo) ; Sanna-Cherchi, Simone (Columbia University College of Physicians and Surgeons) ; Ronco, Pierre (Centre Hospitalier du Mans) ; Iijima, Kazumoto (Kobe University Graduate School of Medicine) ; Sampson, Matthew G. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Universitat Autònoma de Barcelona
Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. [...]
2023 - 10.1038/s41467-023-37985-w
Nature communications, Vol. 14 (april 2023)  
Registre complet - Creative Commons
2.
13 p, 275.9 KB X-Linked and Autosomal Recessive Alport Syndrome : Pathogenic Variant Features and Further Genotype-Phenotype Correlations / Savige, Judith (The University of Melbourne, Melbourne, Australia) ; Storey, Helen (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Il Cheong, Hae (Seoul National University Hospital, Seoul, Korea) ; Gyung Kang, Hee (Seoul National University Hospital, Seoul, Korea) ; Park, Eujin (Seoul National University Hospital, Seoul, Korea) ; Hilbert, Pascale (Institute de Pathologie et de Genetique ASBL (Bèlgica)) ; Persikov, Anton (Princeton University, Princeton, New Jersey, United States of America) ; Torres-Fernandez, Carmen (GENETAQ, Centro de Genética Molecular) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Hertz, Jens Michael (Odense University Hospital (Dinamarca)) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Shagam, Lev (Pirogov Russian Medical University, Moscow, Russia) ; Wang, Dongmao (The University of Melbourne, Melbourne, Australia) ; Wang, Yanyan (The University of Melbourne, Melbourne, Australia) ; Flinter, Frances (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Nagel, Mato (Centre for Nephrology and Metabolic Medicine, Weisswasser, Germany) ; Universitat Autònoma de Barcelona
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3 / COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. [...]
2016 - 10.1371/journal.pone.0161802
PloS one, Vol. 11 (september 2016)  
Registre complet - Creative Commons

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1 Cheong, H.I.
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