Results overview: Found 17 records in 0.02 seconds.
Articles, 14 records found
Research literature, 3 records found
Articles 14 records found  1 - 10next  jump to record:
1.
6 p, 1.0 MB MYH9-related disease : it does exist, may be more frequent than you think and requires specific therapy / Fernandez-Prado, Raul (REDinREN, Instituto de Investigación Carlos III, Madrid, Spain) ; Carriazo-Julio, Sol Maria (REDinREN, Instituto de Investigación Carlos III, Madrid, Spain) ; Torra, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Ortiz, Alberto (REDinREN, Instituto de Investigación Carlos III, Madrid, Spain) ; Perez-Gomez, María Vanessa (REDinREN, Instituto de Investigación Carlos III, Madrid, Spain) ; Universitat Autònoma de Barcelona
In this issue of ckj, Tabibzadeh et al. report one of the largest series of patients with MYH9 mutations and kidney disease. The cardinal manifestation of MYH9-related disease is thrombocytopenia with giant platelets. [...]
2019 - 10.1093/ckj/sfz103
Clinical Kidney Journal, Vol. 12 (august 2019) , p. 488-493  
2.
8 p, 1.5 MB Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome : case report and review of the literature / Domingo-Gallego, Andrea (Institut d'Investigació Biomèdica Sant Pau) ; Furlano, Mónica (Institut d'Investigació Biomèdica Sant Pau) ; Pybus, Marc (Institut d'Investigació Biomèdica Sant Pau) ; Barraca, Daniel (Hospital General Universitario Gregorio Marañón) ; Martínez, Ana Belén (Hospital General Universitario Gregorio Marañón) ; Mora Muñoz, Emiliano (Hospital Universitario Mutua de Terrassa) ; Torra, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies. WDR73 pathogenic variants were described as the first genetic cause of GAMOS and, very recently, four novel causative genes, OSGEP, LAGE3, TP53RK, and TPRKB, have been identified. [...]
2019 - 10.1186/s12882-019-1317-y
BMC Nephrology, Vol. 20 (april 2019)  
3.
8 p, 928.1 KB Recent advances in the clinical management of autosomal dominant polycystic kidney disease / Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder causing the development of renal and hepatic cysts and decline in renal function. It affects around 1 in 1,000 live births. [...]
2019 - 10.12688/f1000research.17109.1
F1000Research, Vol. 8 (january 2019)  
4.
9 p, 1.5 MB Advances and unmet needs in genetic, basic and clinical science in Alport syndrome : report from the 2015 International Workshop on Alport Syndrome / Gross, Oliver (University Medicine Goettingen (Germany)) ; Kashtan, Clifford E. (University of Minnesota Medical School (USA)) ; Rheault, Michelle N. (University of Minnesota Medical School (USA)) ; Flinter, Frances (Guy's and St Thomas' NHS Foundation Trust (United Kingdom)) ; Savige, Judith (The University of Melbourne (Australia)) ; Miner, Jeffrey H. (Washington University School of Medicine (USA)) ; Torra, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Deltas, Constantinos (University of Cyprus) ; Savva, Isavella (University of Cyprus) ; Perin, Laura (University of Southern California, Children's Hospital Los Angeles (USA)) ; Renieri, Alessandra (University of Siena (Italy)) ; Ariani, Francesca (University of Siena (Italy)) ; Mari, Francesca (University of Siena (Italy)) ; Baigent, Colin (University of Oxford (United Kingdom)) ; Judge, Parminder (University of Oxford (United Kingdom)) ; Knebelman, Bertrand (Université Paris Descartes (France)) ; Heidet, Laurence (Clinique Maurice Lamy, Hôpital Necker-Enfants Malades (France)) ; Lagas, Sharon (Alport Syndrome Foundation (USA)) ; Blatt, Dave (Alport Foundation of Australia) ; Ding, Jie (Peking University First Hospital (China)) ; Zhang, Yanqin (Peking University First Hospital (China)) ; Gale, Daniel P. (University College London-Centre for Nephrology (United Kingdom)) ; Prunotto, Marco (F. Hoffmann-La Roche Ltd. Roche Pharma Research & Early Development (Switzerland)) ; Xue, Yong (Global Clinical Development. Sanofi Genzyme (The Netherlands)) ; Schachter, Asher D. (Novartis Institutes for BioMedical Research (USA)) ; Morton, Lori C.G. (Regeneron Pharmaceuticals (USA)) ; Blem, Jacqui (Regulus Therapeutics (USA)) ; Huang, Michael (Regulus Therapeutics (USA)) ; Liu, Shiguang (Sanofi-Genzyme R&D Center (USA)) ; Vallee, Sebastien (Discovery Biology. Shire (USA)) ; Renault, Daniel (FEDERG (Belgium)) ; Schifter, Julia (Alport Israel) ; Skelding, Jules (Alport UK (United Kingdom)) ; Gear, Susie (Alport UK (United Kingdom)) ; Friede, Tim (University Medical Center Goettingen (Germany)) ; Turner, A. Neil (University of Edinburgh (United Kingdom)) ; Lennon, Rachel (University of Manchester (United Kingdom)) ; Universitat Autònoma de Barcelona
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. [...]
2017 - 10.1093/ndt/gfw095
Nephrology Dialysis Transplantation, Vol. 32, Issue 6 (June 2017) , p. 916-924  
5.
10 p, 832.8 KB Recommendations for imaging-based diagnosis and management of renal angiomyolipoma associated with tuberous sclerosis complex / Buj Pradilla, María José (Hospital Universitario 12 de Octubre) ; Martí Ballesté, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Torra, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Villacampa Aubá, Felipe (Hospital Universitario 12 de Octubre) ; Universitat Autònoma de Barcelona
Renal angiomyolipomas are found in up to 80% of tuberous sclerosis complex (TSC) patients. Although these tumours are usually asymptomatic, lesions >3 cm in diameter are prone to bleeding and up to 10% of TSC patients may experience a massive and potentially fatal retroperitoneal haemorrhage. [...]
2017 - 10.1093/ckj/sfx094
Clinical Kidney Journal, Vol. 10 (september 2017) , p. 728-737  
6.
8 p, 727.2 KB Rare diseases, rare presentations : recognizing atypical inherited kidney disease phenotypes in the age of genomics / Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of the highly heterogeneous IKDs. [...]
2017 - 10.1093/ckj/sfx051
Clinical Kidney Journal, Vol. 10 (july 2017) , p. 586-593  
7.
12 p, 666.2 KB Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease : a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice / Gansevoort, Ron T. (University Medical Center Groningen, University of Groningen) ; Arici, Mustafa (Hacettepe University Faculty of Medicine) ; Benzing, Thomas (University of Cologne) ; Birn, Henrik (Aarhus University) ; Capasso, Giovambattista (Second University of Naples) ; Covic, Adrian (and 'Grigore T. Popa' University of Medicine. C.I. PARHON' University Hospital) ; Devuyst, Olivier (UCL Medical School) ; Drechsler, Christiane (University Hospital. University of Würzburg) ; Eckardt, Kai-Uwe (Friedrich-Alexander University Erlangen-Nürnberg (FAU)) ; Emma, Francesco (Bambino Gesù Children's Hospital-IRCCS) ; Knebelmann, Bertrand (Paris Descartes University. Hôpital Necker) ; Le Meur, Yannick (Hôpital La Cavale Blanche, Centre Hospitalier Régional Universitaire de Brest) ; Massy, Ziad A. (University of Paris Saclay and Paris Ouest-Versailles-Saint-Quentin-en-Yvelines (UVSQ)) ; Ong, Albert C.M. (University of Sheffield Medical School) ; Ortiz, Alberto (IIS-Fundacion Jimenez Diaz-UAM and REDINREN) ; Schaefer, Franz (Heidelberg University Hospital) ; Torra, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Vanholder, Raymond (Ghent University Hospital) ; Więcek, Andrzej (Medical University of Silesia in Katowice) ; Zoccali, Carmine (CNR-IFC Clinical Epidemiology and Pathophysiology of Renal Diseases and Hypertension Unit, Reggio Calabria c/o Ospedali Riuniti) ; Van Biesen, Wim (Ghent University Hospital) ; Universitat Autònoma de Barcelona ; Institut Puigvert
Recently, the European Medicines Agency approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency of autosomal dominant polycystic kidney disease (ADPKD) in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease. [...]
2016 - 10.1093/ndt/gfv456
Nephrology Dialysis Transplantation, Vol. 31 (january 2016) , p. 337-348  
8.
7 p, 1.3 MB Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated / Cabrera López, Cristina (Institut d'Investigació Biomèdica Sant Pau) ; Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Martí, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Català, Violeta (Institut d'Investigació Biomèdica Sant Pau) ; Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ; Bissler, John J. (Pediatric Nephrology Department, Le Bonheur Children's Hospital, Memphis, TN USA) ; Harris, Peter C. (Department of Biochemistry and Molecular Biology, Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN USA) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. [...]
2015 - 10.1186/s12881-015-0185-y
BMC Medical Genetics, Vol. 16 (june 2015)  
9.
8 p, 444.5 KB Targeted next-generation sequencing in steroid-resistant nephrotic syndrome : mutations in multiple glomerular genes may influence disease severity / Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Trujillano, Daniel (CIBER in Epidemiology and Public Health (CIBERESP)) ; Santín, Sheila (Institut d'Investigació Biomèdica Sant Pau) ; Ossowski, Stephan (Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG)) ; Mendizábal, Santiago (Pediatric Nephrology Department, Hospital Universitario La Fe) ; Fraga Rodríguez, Gloria María (Institut d'Investigació Biomèdica Sant Pau) ; Madrid, Álvaro (Pediatric Nephrology Department, Hospital Vall d'Hebron) ; Ariceta, Gema (Pediatric Nephrology Department, Hospital Vall d'Hebron) ; Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Estivill, Xavier (CIBER in Epidemiology and Public Health (CIBERESP)) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Instituto de Salud Carlos III
Genetic diagnosis of steroid-resistant nephrotic syndrome (SRNS) using Sanger sequencing is complicated by the high genetic heterogeneity and phenotypic variability of this disease. We aimed to improve the genetic diagnosis of SRNS by simultaneously sequencing 26 glomerular genes using massive parallel sequencing and to study whether mutations in multiple genes increase disease severity. [...]
2014 - 10.1038/ejhg.2014.252
European Journal of Human Genetics, Vol. 23 (november 2014) , p. 1192-1199  
10.
10 p, 715.2 KB Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing / Trujillano, Daniel (CIBER in Epidemiology and Public Health (CIBERESP)) ; Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Ossowski, Stephan (Universitat Pompeu Fabra (UPF)) ; Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Estivill, Xavier (Dexeus Woman's Health, Hospital Universitary Quiron Dexeus) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous sequences of PKD1. [...]
2014 - 10.1002/mgg3.82
Molecular genetics & genomic medicine, Vol. 2 (may 2014) , p. 412-421  

Articles : 14 records found   1 - 10next  jump to record:
Research literature 3 records found  
1.
129 p, 1.6 MB Nefropatía tubulointersticial autosómica dominante / Ayasreh Fierro, Nadia, autor. ; Torra Balcells, Roser, supervisor acadèmic. ; Ars Criach, Elisabet, supervisor acadèmic. ; Benito Vales, S, (Salvador) supervisor acadèmic. ; Universitat Autònoma de Barcelona. Departament de Medicina
La nefropatía tubulointersticial autosómica dominante (NTAD) es una enfermedad renal hereditaria que se caracteriza por un daño tubulointersticial crónico. Clínicamente cursa con una enfermedad renal crónica (ERC) de lenta evolución con ausencia o mínima proteinuria y ausencia de microhematuria, con una edad de enfermedad renal crónica terminal (ERCT) muy variable. [...]
[Bellaterra] : Universitat Autònoma de Barcelona, 2017.  
2.
87 p, 9.0 MB Molecular study of idiopathic nephrotic syndrome / Bullich Vilanova, Gemma ; Ars Criach, Elisabet, dir. ; Torra Balcells, Roser, dir. ; Nogués, C. (Carme) (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia
Aquesta tesi és una contribució al coneixement de les bases moleculars de la síndrome nefròtica idiopàtica concretament, la nefropatia membranosa idiopàtica i la síndrome nefròtica córtico-resistent (SNCR) o glomeruloesclerosis segmentària i focal (GESF). [...]
This thesis is a contribution to the knowledge of the molecular bases of idiopathic nephrotic syndrome specifically, the idiopathic membranous nephropathy and steroid-resistant nephrotic syndrome (SRNS)/ focal segmental glomerulosclerosis (FSGS). [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2016
3 documents
3.
13 p, 158.1 KB Estudio clínico y mutacional de una cohorte de pacientes con mutación en el gen hnf1b / Ayasreh Fierro, Nadia ; Torra Balcells, Roser, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina ; Universitat Autònoma de Barcelona. Facultat de Medicina
HNF1B (Hepatocyte Nuclear Factor 1-B localizado en el cromosoma 17q21. 3) es un factor de transcripción con un papel fundamental en los primeros estadios del desarrollo y en la organogénesis de diferentes tejidos como el renal, hepático, pancreático o genital. [...]
2013  

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4 Torra, R.
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