المؤلفون: Ayasreh Fierro, Nadia

المساهمون: University/Department: Universitat Autònoma de Barcelona. Departament de Medicina

Thesis Advisors: Torra Balcells, Roser, Ars Criach, Elisabet

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Malatia renal hereditària, Enfermedad renal hereditaria, Inherited kidney disease, Malaltia renal crònica, Enfermedad renal crónica, Chronic kidney disease, Ciències de la Salut

Time: 616.6

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/405658

المؤلفون: Guozhen Wang, Mengqiu Liao, Danny Junyi Tan, Xiangjun Chen, Ran Chao, Yifan Zhu, Pan Li, Yuelin Guan, Jianhua Mao, Lidan Hu

المصدر: Kidney Diseases, Pp 1-15 (2024)

مصطلحات موضوعية: inherited kidney disease, diagnosis, treatment, gene therapy, children, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://beta.karger.com/Article/FullText/541564; https://doaj.org/toc/2296-9357

URL الوصول: https://doaj.org/article/a5a19c681ed04134877615d7ed15f607

المؤلفون: Verhellen, Catherine, Gillion, Valentine, Van Regemorter, Elliott, Van Nieuwenhove, Sandy, Dahan, Karin, Demoulin, Nathalie

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

المصدر: Louvain médical, Vol. 143, no. 9-10, p. 554-559 (2024)

مصطلحات موضوعية: OFD1, maladie rénale génétique, ciliopathie, ADPKD, inherited kidney disease, ciliopathy

Relation: boreal:298109; http://hdl.handle.net/2078.1/298109

الاتاحة: http://hdl.handle.net/2078.1/298109

المؤلفون: Robert, Thomas, Greillier, Sophie, Torrents, Julia, Raymond, Laure, Dancer, Marine, Jourde-Chiche, Noémie, Halimi, Jean-Michel, Burtey, Stéphane, Béroud, Christophe, Mesnard, Laurent

المساهمون: Assistance Publique - Hôpitaux de Marseille (APHM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Eurofins Biomnis, Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Tenon AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 2468-0249 ; Kidney International Reports ; https://amu.hal.science/hal-04540867 ; Kidney International Reports, 2023, 8 (10), pp.2077-2087. ⟨10.1016/j.ekir.2023.07.003⟩.

مصطلحات موضوعية: alport disease, exome, inherited kidney disease, nephrogenomic, renal pathology, undetermined kidney disease, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/37850010; hal-04540867; https://amu.hal.science/hal-04540867; https://amu.hal.science/hal-04540867/document; https://amu.hal.science/hal-04540867/file/PIIS2468024923013815.pdf; PUBMED: 37850010; WOS: 001148318700001

الاتاحة: https://amu.hal.science/hal-04540867
https://amu.hal.science/hal-04540867/document
https://amu.hal.science/hal-04540867/file/PIIS2468024923013815.pdf
https://doi.org/10.1016/j.ekir.2023.07.003

المؤلفون: Atsuki Ohashi, Eisei Sohara, Madoka Kondo, Shinichi Uchida, Tadashi Oshita, Takayasu Mori, Yoshitaka Maeda

المصدر: Journal of Rural Medicine. 2023, 18(2):143

المؤلفون: Furlano, Monica, Martínez, Victor, Pybus, Marc, Arce, Yolanda, Crespí, Jaume, Venegas, María del Prado, Bullich Vilanova, Gemma, Domingo, Andrea, Ayasreh Fierro, Nadia, Benito, Silvia, Lorente, Laura, Ruíz, Patricia, Gonzalez, Vanesa L., Arlandis, Rosa, Cabello, Elisa, Torres, Ferran, Guirado, Luis, Ars, Elisabet, Torra Balcells, Roser

مصطلحات موضوعية: Alport syndrome, Autosomal-dominant Alport syndrome, COL4A3, COL4A4, Familial benign hematuria, Familial hematuria, Genetic, Genotype-phenotype correlation, Hearing loss, Hereditary kidney disease, Inherited kidney disease, Thin basement membrane disease

وصف الملف: application/pdf

Relation: Instituto de Salud Carlos III ETIC REDINREN RD16/0009; Instituto de Salud Carlos III PI15/01824; Instituto de Salud Carlos III PI16/01998; Instituto de Salud Carlos III PI18/00362; Instituto de Salud Carlos III PI19/01633; Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-00676; American Journal of Kidney Diseases; Vol. 78 Núm. 4 (october 2021), p. 560-570.e1; https://ddd.uab.cat/record/269618; urn:10.1053/j.ajkd.2021.02.326; urn:oai:ddd.uab.cat:269618; urn:scopus_id:85106376247; urn:pmid:33838161; urn:articleid:15236838v78n4p560

الاتاحة: https://ddd.uab.cat/record/269618

المؤلفون: Sarah A. Bowden, Euan J. Rodger, Aniruddha Chatterjee, Michael R. Eccles, Cherie Stayner

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 24; Pages: 13327

مصطلحات موضوعية: epigenetics, epigenome, polycystic kidney disease, DNA methylation, cystogenesis, inherited kidney disease, ADPKD, PKD1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms222413327

الاتاحة: https://doi.org/10.3390/ijms222413327

المؤلفون: Kidd, Kendrah Osborne

المساهمون: Kmoch, Stanislav, Rajnochová Bloudíčková, Silvie, Hoorn, Ewout J., Živná, Martina

مصطلحات موضوعية: Inherited Kidney Disease, Autosomal Tubulointerstitial Kidney Disease, ADTKD, UMOD, REN, MUC1, APOA4, rare disease, uromodulin, renin, mucin-1, patient database, end stage kidney disease, ESKD, ADTKD registry, dědičně podmíněných onemocnění ledvin, autosomálně dominantní tubulointersticiální onemocnění ledvin, vzácných onemocnění, databázi pacientů, selhání ledvin, ADTKD registr

وصف الملف: application/pdf

Relation: http://hdl.handle.net/20.500.11956/195620; 209689

الاتاحة: https://hdl.handle.net/20.500.11956/195620

المؤلفون: Villalvazo, Priscila, Carriazo, Sol, Rojas-Rivera, Jorge, Ramos, Adrián M., Ortiz Arduán, Alberto, Pérez Gómez, María Vanessa

المساهمون: UAM. Departamento de Medicina

مصطلحات موضوعية: A20, HA20, TLR7, inherited kidney disease, lupus nephritis, systemic lupus erythematosus, Medicina

وصف الملف: application/pdf

Relation: Clinical Kidney Journal; https://doi.org/10.1093/ckj/sfac152; Comunidad de Madrid. B2017/BMD-3686 CIFRA2-CM; Gobierno de España. PI18/01366; Gobierno de España. PI18/01133; Gobierno de España. PI19/00588; Gobierno de España. PI19/00815; Gobierno de España. DTS18/00032; Gobierno de España. KIDNEY ATTACK AC18/00064; Gobierno de España. PERSTIGAN AC18/00071; Gobierno de España. RD016/0009; Gobierno de España. RD21/0005/0001; Gobierno de España. PMP21/00109; Clinical Kidney Journal. 15.11 (2022): 1973-1980; http://hdl.handle.net/10486/714395; 1973; 11; 1980; 15

الاتاحة: http://hdl.handle.net/10486/714395
https://doi.org/10.1093/ckj/sfac152

المؤلفون: Mohamed H Al-Hamed, Faiqa Imtiaz, Jameela Kari

المصدر: Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 19-25 (2018)

مصطلحات موضوعية: inherited kidney disease, mutations, molecular genetics, consanguinity, saudi arabia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=302730; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/deec20fe05ed402fb579a045bd5524cb

المؤلفون: Kushani Jayasinghe, Cathy Quinlan, Zornitza Stark, Chirag Patel, Matthew G. Sampson, Moin Saleem, Andrew J. Mallett, on behalf of the KidGen Collaborative

المصدر: Human Genomics, Vol 12, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Inherited kidney disease, Nephrogenetics, Renal genetics, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40246-018-0137-7; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/d2c1d2e666b04a488ca3a4c56d921f2d

المؤلفون: Fernandez-Prado, Raul, Carriazo-Julio, Sol Maria, Torra Balcells, Roser, Ortiz, Alberto, Pérez-Gómez, Maria Vanessa, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Angiotensin, Deafness, Inherited kidney disease, MYH9, Nephritis, Thrombopenia

وصف الملف: application/pdf

Relation: Instituto de Salud Carlos III PI15-00298; Instituto de Salud Carlos III CP14-00133; Instituto de Salud Carlos III PI16-02057; Instituto de Salud Carlos III PI16-01900; Instituto de Salud Carlos III PI18-00362; Instituto de Salud Carlos III PI18-01366; Clinical Kidney Journal; Vol. 12 (august 2019), p. 488-493; https://ddd.uab.cat/record/226573; urn:10.1093/ckj/sfz103; urn:oai:ddd.uab.cat:226573; urn:pmid:31384439; urn:pmcid:PMC6671427; urn:pmc-uid:6671427; urn:articleid:20488513v12p488; urn:oai:pubmedcentral.nih.gov:6671427; urn:oai:egreta.uab.cat:publications/97d58c9d-2516-43fe-a724-98814702a6e8

الاتاحة: https://ddd.uab.cat/record/226573

المؤلفون: Jayasinghe, Kushani, Quinlan, Catherine, Stark, Zornitza, Patel, Chirag, Mallawaarachchi, Amali, Wardrop, Louise, Kerr, Peter G., Trnka, Peter, Mallett, Andrew J.

المصدر: Jayasinghe , K , Quinlan , C , Stark , Z , Patel , C , Mallawaarachchi , A , Wardrop , L , Kerr , P G , Trnka , P , Mallett , A J & on behalf of the KidGen Collaborative 2019 , ' Renal genetics in Australia : Kidney medicine in the genomic age ' , Nephrology , vol. 24 , no. 3 , pp. 279-286 . https://doi.org/10.1111/nep.13494

مصطلحات موضوعية: genetic kidney disease, genetic testing, genomic testing, inherited kidney disease

وصف الملف: application/pdf

الاتاحة: https://research.monash.edu/en/publications/947268a2-5216-43ea-ad15-ba86bbac1797
https://doi.org/10.1111/nep.13494
https://researchmgt.monash.edu/ws/files/302506932/276810994_oa.pdf
http://www.scopus.com/inward/record.url?scp=85055286542&partnerID=8YFLogxK

المؤلفون: Elisabet Ars, Roser Torra, Mónica Furlano, Alberto Ortiz

المصدر: Clinical Kidney Journal

مصطلحات موضوعية: 0301 basic medicine, Nephrology, medicine.medical_specialty, Genetic counseling, 030232 urology & nephrology, Context (language use), Nephropathy, genetic testing, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, inherited kidney disease, Family history, Intensive care medicine, AcademicSubjects/MED00340, Genetic testing, CKJ Reviews, Transplantation, medicine.diagnostic_test, business.industry, familial, registries, medicine.disease, 030104 developmental biology, Etiology, genetic, business, chronic kidney disease, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200ebe42e049f77caaf01c24d386cb5e
http://europepmc.org/articles/PMC8323147

المؤلفون: Marina Muñoz, Ramon Vilalta, Enrique Lara, Gema Ariceta, Neus Roca, Alejandro Cruz

المصدر: Clinical Kidney Journal

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Denys–Drash syndrome, medicine.medical_treatment, 030232 urology & nephrology, Gonadoblastoma, Wilms’ tumour, 03 medical and health sciences, 0302 clinical medicine, intersex disorders, Denys–Drash, medicine, Kidney transplantation, Transplantation, medicine.diagnostic_test, business.industry, medicine.disease, Nephrectomy, Steroid-resistant nephrotic syndrome, WT1, steroid resistant nephrotic syndrome, Nephrology, 030220 oncology & carcinogenesis, Inherited Kidney Disease, Renal biopsy, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caa4139201fbbf69bcd605cea6a9b6ae
http://europepmc.org/articles/PMC6885669

المؤلفون: Zacchia, Miriam, Blanco, Francesca Del Vecchio, Trepiccione, Francesco, Blasio, Giancarlo, Torella, Annalaura, Melluso, Andrea, Capolongo, Giovanna, Pollastro, Rosa Maria, Piluso, Giulio, Di Iorio, Valentina, Simonelli, Francesca, Viggiano, Davide, Perna, Alessandra, Nigro, Vincenzo, Capasso, Giovambattista

المساهمون: Zacchia, Miriam, Blanco, Francesca Del Vecchio, Trepiccione, Francesco, Blasio, Giancarlo, Torella, Annalaura, Melluso, Andrea, Capolongo, Giovanna, Pollastro, Rosa Maria, Piluso, Giulio, Di Iorio, Valentina, Simonelli, Francesca, Viggiano, Davide, Perna, Alessandra, Nigro, Vincenzo, Capasso, Giovambattista

مصطلحات موضوعية: ADPKD, Bardet-Biedl syndrome, Gene-panel, Inherited kidney disease, NGS

Relation: info:eu-repo/semantics/altIdentifier/pmid/33964006; info:eu-repo/semantics/altIdentifier/wos/WOS:000648377000001; volume:34; issue:6; firstpage:1855; lastpage:1874; numberofpages:20; journal:JN. JOURNAL OF NEPHROLOGY; https://hdl.handle.net/11591/450331

الاتاحة: https://hdl.handle.net/11591/450331
https://doi.org/10.1007/s40620-021-01048-4

مصطلحات موضوعية: MYH9, Angiotensin, Nephritis, Inherited kidney disease, Deafness, Thrombopenia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______272::b285e044357a4813b0cb7a954b8cd680
https://hdl.handle.net/2072/441204

المؤلفون: Jan A.M. Smeitink, Mirian C. H. Janssen, Nienke van Engelen, Jack F.M. Wetzels, Paul de Laat

المصدر: Clinical Kidney Journal, 12, 840-846
Clinical Kidney Journal, 12, 6, pp. 840-846
Clinical Kidney Journal

مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Encephalopathy, maternally inherited diabetes deafness (MIDD), 030232 urology & nephrology, kidney transplantation, Renal function, mitochondrial encephalomyopathy, urologic and male genital diseases, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Focal segmental glomerulosclerosis, Mitochondrial myopathy, encephalomyopathy, Internal medicine, medicine, Renal replacement therapy, Kidney transplantation, Transplantation, Kidney, business.industry, mitochondrial myopathy, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, mitochondrial disease, medicine.anatomical_structure, lactic acidosis and stroke-like episodes (MELAS) syndrome, Nephrology, m.3243A>G mutation, Inherited Kidney Disease, Renal disorders Radboud Institute for Health Sciences [Radboudumc 11], business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::277ce88d6b282b34aa08f819d7a85eaa
https://doi.org/10.1093/ckj/sfz020

المؤلفون: Shogo Minamikawa, Daisuke Ichikawa, Tomohiko Yamamura, Hiroyo Kourakata, Yoshimi Nozu, China Nagano, Ming Juan Ye, Naoya Morisada, Satoshi Tazoe, Hiroshi Kaito, Keita Nakanishi, Junya Fujimura, Ryojiro Tanaka, Tomoko Horinouchi, Kazumoto Iijima, Nana Sakakibara, Keita Numasawa, Chieko Matsumura, Kandai Nozu, Masahiko Yazawa

المصدر: Clinical and Experimental Nephrology. 22(4):881-888

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Physiology, 030232 urology & nephrology, Computational biology, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Internal medicine, medicine, Humans, Multiplex, Copy-number variation, Multiplex ligation-dependent probe amplification, Alport syndrome, CLCNKB, Comparative Genomic Hybridization, biology, business.industry, High-Throughput Nucleotide Sequencing, Infant, Middle Aged, Renal coloboma syndrome, medicine.disease, HNF1B, Bartter syndrome, 030104 developmental biology, Nephrology, Child, Preschool, biology.protein, Inherited kidney disease, Gitelman syndrome, Female, Kidney Diseases, business, BOR syndrome, Comparative genomic hybridization

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a58a58f34c05e280b3ced40c48cbcde2
http://www.lib.kobe-u.ac.jp/handle_kernel/90005938

المؤلفون: Torra Balcells, Roser, Furlano, Monica, Ortiz, Alberto, Ars, Elisabet, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Chronic kidney disease, Familial, Genetic, Genetic testing, Inherited kidney disease, Registries

وصف الملف: application/pdf

Relation: Instituto de Salud Carlos III RETIC REDINREN RD16/0009; Instituto de Salud Carlos III FIS FEDER FUNDS PI15/01824; Instituto de Salud Carlos III FIS FEDER FUNDS PI16/01998; Instituto de Salud Carlos III FIS FEDER FUNDS PI18/00362; Instituto de Salud Carlos III FIS FEDER FUNDS PI19/01633; Instituto de Salud Carlos III FIS FEDER FUNDS PI19/00815; Clinical Kidney Journal; Vol. 14 Núm. 8 (january 2021), p. 1879-1885; https://ddd.uab.cat/record/269686; urn:10.1093/ckj/sfab056; urn:oai:ddd.uab.cat:269686; urn:scopus_id:85122441452; urn:articleid:20488513v14n8p1879; urn:pmid:34345410; urn:pmc-uid:8323147; urn:pmcid:PMC8323147; urn:oai:pubmedcentral.nih.gov:8323147; urn:oai:egreta.uab.cat:publications/ae4bd1b8-3db9-4c1a-ae2a-ccbf935eb5dc

الاتاحة: https://ddd.uab.cat/record/269686