المؤلفون: Downie ML, Gupta S, Tekman MC, Cheshire C, Arora S, Licht C, Robinson LA, Munoz M, Alvaro Madrid Aris, Al Attrach I, Brenchley PE, Gale DP, Stanescu H, Bockenhauer D, Kleta R

المصدر: Kidney International Reports
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: X-linked, membranous nephropathy, linkage analysis, LOD score, genetic risk score, glomerulonephritis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2c8d9bbf4c30dd1a093e9b66216f4d5c
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19806

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Chris Cheshire, Mallory L. Downie, Alvaro Madrid Aris, Steven Arora, Horia Stanescu, Christoph Licht, Lisa A. Robinson, Robert Kleta, Mehmet Tekman, Paul Brenchley, Sanjana Gupta, Detlef Bockenhauer, Ibrahim Al Attrach, Marina Munoz, Daniel P. Gale

المساهمون: Institut Català de la Salut, [Downie ML] Department of Renal Medicine, University College London, London, UK. Paediatric Nephrology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK. [Gupta S, Cheshire C] Department of Renal Medicine, University College London, London, UK. [Tekman MC] Department of Computer Science, University of Freiburg, Freiburg, Germany. [Arora S] Department of Paediatrics, Division of Nephrology, McMaster Children’s Hospital, Hamilton, Ontario, Canada. [Licht C] Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada. [Munoz M] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia
Downie, M L, Gupta, S, Tekman, M C, Cheshire, C, Arora, S, Licht, C, Robinson, L A, Munoz, M, Aris, A M, Al Attrach, I, Brenchley, P E, Gale, D P, Stanescu, H, Bockenhauer, D & Kleta, R 2021, ' Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy ', Kidney International Reports, vol. 6, no. 6, pp. 1669-1676 . https://doi.org/10.1016/j.ekir.2021.02.025, https://doi.org/10.1016/j.ekir.2021.02.025
Kidney International Reports, Vol 6, Iss 6, Pp 1669-1676 (2021)
Kidney International Reports

مصطلحات موضوعية: enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades genéticas ligadas al cromosoma X [ENFERMEDADES], 030232 urology & nephrology, Locus (genetics), 030204 cardiovascular system & hematology, genetic risk score, Cromosoma X, 03 medical and health sciences, 0302 clinical medicine, Membranous nephropathy, Clinical Research, Genetic linkage, Polymorphism (computer science), Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::nefritis::glomerulonefritis::glomerulonefritis membranosa [ENFERMEDADES], linkage analysis, Glomerulonefritis - Aspectes genètics, X chromosome, X-linked, Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Nephritis::Glomerulonephritis::Glomerulonephritis, Membranous [DISEASES], Genetics, Autosome, Otros calificadores::Otros calificadores::/genética [Otros calificadores], business.industry, Haplotype, membranous nephropathy, Chromosome, medicine.disease, LOD score, Diseases of the genitourinary system. Urology, Nephrology, RC870-923, Malalties congènites, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Genetic Diseases, X-Linked [DISEASES], business, glomerulonephritis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a9b671ce8f79a81158554da990de90d
https://doi.org/10.1016/j.ekir.2021.02.025

المؤلفون: Downie ML; Division of Nephrology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Foster BJ; Division of Nephrology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Department of Epidemiology, Biostatistics, and Occupational Health, McGill University, Montreal, Quebec, Canada.

المصدر: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2024 Apr 01; Vol. 35 (4), pp. 392-394. Date of Electronic Publication: 2024 Mar 13.

نوع المنشور: Editorial

بيانات الدورية: Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Renal Insufficiency*/epidemiology, Incidence ; United States/epidemiology ; Humans

المؤلفون: Voinescu CD; Centre for Genetics and Genomics, Department of Renal Medicine, UCL Division of Medicine, University College London, London, UK., Mozere M; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Genovese G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Downie ML; Centre for Genetics and Genomics, Department of Renal Medicine, UCL Division of Medicine, University College London, London, UK., Gupta S; Centre for Genetics and Genomics, Department of Renal Medicine, UCL Division of Medicine, University College London, London, UK., Gale DP; Centre for Genetics and Genomics, Department of Renal Medicine, UCL Division of Medicine, University College London, London, UK., Bockenhauer D; Centre for Genetics and Genomics, Department of Renal Medicine, UCL Division of Medicine, University College London, London, UK., Kleta R; Centre for Genetics and Genomics, Department of Renal Medicine, UCL Division of Medicine, University College London, London, UK., Arcos-Burgos M; Grupo de Investigación en Psiquiatría, Departamento de Psiquiatría, Instituto de Investigaciones Médicas, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia., Stanescu HC; Centre for Genetics and Genomics, Department of Renal Medicine, UCL Division of Medicine, University College London, London, UK. Electronic address: h.stanescu@ucl.ac.uk.

المصدر: Kidney international [Kidney Int] 2024 Apr; Vol. 105 (4), pp. 791-798. Date of Electronic Publication: 2024 Feb 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

مواضيع طبية MeSH: Neanderthals*/genetics , Glomerulonephritis, Membranous*/genetics, Humans ; Animals ; Haplotypes ; Genome, Human ; Genome-Wide Association Study ; Receptors, Phospholipase A2/genetics

المؤلفون: Sorgini A; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Istl AC; Department of Surgery, Division of Surgical Oncology, Medical College of Wisconsin, Milwaukee, WI, USA., Downie ML; Department of Renal Medicine, University College London, London, UK.; Department of Nephrology, Great Ormond Street Hospital NHS Trust, London, UK., Kirpalani A; Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Division of Nephrology, Children's Hospital, London Health Sciences Centre, London, ON, Canada.

المصدر: Medical teacher [Med Teach] 2024 Jan; Vol. 46 (1), pp. 73-81. Date of Electronic Publication: 2023 Jul 07.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 7909593 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1466-187X (Electronic) Linking ISSN: 0142159X NLM ISO Abbreviation: Med Teach Subsets: MEDLINE

مواضيع طبية MeSH: Prejudice* , Sexual and Gender Minorities*, Humans ; Gender Identity ; Mental Health ; Emotions

المؤلفون: Downie ML; McGill University Health Center Research Institute, Montreal, QC, Canada., Desjarlais A; Kidney Research Scientist Core Education and National Training Program, Montreal, QC, Canada., Verdin N; Kidney Research Scientist Core Education and National Training Program, Montreal, QC, Canada., Woodlock T; Kidney Research Scientist Core Education and National Training Program, Montreal, QC, Canada., Collister D; Department of Medicine, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Canada.

المصدر: Canadian journal of kidney health and disease [Can J Kidney Health Dis] 2023 Oct 30; Vol. 10, pp. 20543581231209012. Date of Electronic Publication: 2023 Oct 30 (Print Publication: 2023).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: SAGE Publications Country of Publication: England NLM ID: 101640242 Publication Model: eCollection Cited Medium: Print ISSN: 2054-3581 (Print) Linking ISSN: 20543581 NLM ISO Abbreviation: Can J Kidney Health Dis Subsets: PubMed not MEDLINE

المؤلفون: Downie ML; Department of Renal Medicine, University College London, 1st Floor, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK.; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Gupta S; Department of Renal Medicine, University College London, 1st Floor, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK., Chan MMY; Department of Renal Medicine, University College London, 1st Floor, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK., Sadeghi-Alavijeh O; Department of Renal Medicine, University College London, 1st Floor, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK., Cao J; Department of Medicine, Women's College Hospital, Toronto, Canada., Parekh RS; Department of Medicine, Women's College Hospital, Toronto, Canada.; Department of Pediatrics, Division of Nephrology, The Hospital for Sick Children, Toronto, Canada., Diz CB; Department of Paediatric Nephrology, Evelina London and Faculty of Life Sciences, King's College London, London, UK., Bierzynska A; Bristol Renal, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK., Levine AP; Research Department of Pathology, University College London, London, UK., Pepper RJ; Department of Renal Medicine, University College London, 1st Floor, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK., Stanescu H; Department of Renal Medicine, University College London, 1st Floor, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK., Saleem MA; Bristol Renal, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK., Kleta R; Department of Renal Medicine, University College London, 1st Floor, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK.; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Bockenhauer D; Department of Renal Medicine, University College London, 1st Floor, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK.; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Koziell AB; Department of Paediatric Nephrology, Evelina London and Faculty of Life Sciences, King's College London, London, UK., Gale DP; Department of Renal Medicine, University College London, 1st Floor, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK. d.gale@ucl.ac.uk.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2023 Jun; Vol. 38 (6), pp. 1793-1800. Date of Electronic Publication: 2022 Nov 10.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Nephrotic Syndrome*/diagnosis , Nephrotic Syndrome*/drug therapy , Nephrotic Syndrome*/genetics , Nephrosis, Lipoid*/diagnosis , Nephrosis, Lipoid*/drug therapy , Nephrosis, Lipoid*/genetics , Glomerulosclerosis, Focal Segmental*/diagnosis , Glomerulosclerosis, Focal Segmental*/drug therapy , Glomerulosclerosis, Focal Segmental*/genetics , Glomerulonephritis, Membranous*, Child ; Humans ; Genome-Wide Association Study ; Steroids ; Risk Factors

SCR Disease Name: Nephrosis, congenital

المؤلفون: Downie ML; Department of Renal Medicine, University College London, London, UK.; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Gupta S; Department of Renal Medicine, University College London, London, UK., Voinescu C; Department of Renal Medicine, University College London, London, UK., Levine AP; Department of Pathology, University College London, London, UK., Sadeghi-Alavijeh O; Department of Renal Medicine, University College London, London, UK., Dufek-Kamperis S; Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Cao J; Division of Nephrology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada., Christian M; Nottingham Children's Hospital, Nottingham, UK., Kari JA; Pediatric Nephrology Centre of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia., Thalgahagoda S; Department of Pediatrics, University of Peradeniya, Peradeniya, Sri Lanka., Ranawaka R; Department of Pediatrics, University of Peradeniya, Peradeniya, Sri Lanka., Abeyagunawardena A; Department of Pediatrics, University of Peradeniya, Peradeniya, Sri Lanka., Gbadegesin R; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., Parekh R; Division of Nephrology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada.; Department of Medicine, Women's College Hospital, Toronto, Canada., Kleta R; Department of Renal Medicine, University College London, London, UK.; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Bockenhauer D; Department of Renal Medicine, University College London, London, UK.; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Stanescu HC; Department of Renal Medicine, University College London, London, UK., Gale DP; Department of Renal Medicine, University College London, London, UK.

المصدر: Kidney international reports [Kidney Int Rep] 2023 May 27; Vol. 8 (8), pp. 1562-1574. Date of Electronic Publication: 2023 May 27 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE