المؤلفون: Ververs, FA, Eikendal, ALM, Kofink, D, Nuboer, R, Westenberg, JJM, Hovenkamp, GT, Kemps, JJA, Coenen, ICJ, Daems, JJN, Claus, LR, Ju, Y, Wulffraat, NM, van der Ent, CK, Monaco, C, Boes, M, Leiner, T, Grotenhuis, HB, Schipper, HS

المصدر: Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease, 11(14). WILEY

مصطلحات موضوعية: Adolescent, Aortic Diseases, Pulse Wave Analysis, Carotid Intima-Media Thickness, Aortic Coarctation, Cross-Sectional Studies, Vascular Stiffness, children, cIMT, Humans, adolescents, atherosclerosis, CMR, Child, Cardiology and Cardiovascular Medicine, chronic disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c4de7e3a1ee1acaf751c04b9e4b842a
https://doi.org/10.1161/jaha.122.024675

المؤلفون: Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Chen C; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA., Stallworth J; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Turner JL; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA., Slaats GG; Department of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Utrecht, the Netherlands., Hawks AL; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA., Mabillard H; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK., Senum SR; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Srikanth S; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Flanagan-Steet H; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Louie RJ; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Silver J; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Lerner-Ellis J; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada., Morel C; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Medicine, University of Toronto, Toronto, Ontario, Canada., Mighton C; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada; Lunenfeld-Tanenbaum Research Institute, Toronto, Ontario, Canada., Sleutels F; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., van Ham T; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Dorresteijn EM; Department of Pediatric Nephrology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Dahan K; Institute Pathology and Genetic, Center of Human Genetics, Charleroi, Belgium., Demoulin N; Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Goffin EJ; Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Olinger E; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK., Larsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lilien MR; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, Utrecht, the Netherlands., Obeidová L; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Seeman T; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Pediatrics, University Hospital Ostrava, Ostrava, Czech Republic; Faculty of Medicine, University of Ostrava, Ostrava, Czech Republic., Stone HK; Division of Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Kerecuk L; Birmingham Women's and Children's National Health Services (NHS) Foundation Trust, National Institute for Health Care and Research (NIHR) Clinical Research Network (CRN) West Midlands, Birmingham, UK., Gurgu M; Fundeni Clinical Institute, Bucharest, Romania., Yousef Yengej FA; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands; Hubrecht Institute for Developmental Biology and Stem Cell Research-KNAW, Utrecht, the Netherlands., Ammerlaan CME; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands; Hubrecht Institute for Developmental Biology and Stem Cell Research-KNAW, Utrecht, the Netherlands., Rookmaaker MB; Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, the Netherlands., Hanna C; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Rogers RC; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA., Duran K; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Peters E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Sayer JA; Newcastle University, Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK; National Institute for Health and Care Research (NIHR) Biomedical Research Centre, Newcastle, UK., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Harris PC; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Ling K; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA. Electronic address: Ling.Kun@mayo.edu., Mason JM; Department of Genetics and Biochemistry, Clemson University, Clemson, South Carolina, USA. Electronic address: jmason4@clemson.edu., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: A.vanEerde@umcutrecht.nl., Steet R; Research Division, Greenwood Genetic Center, Greenwood, South Carolina, USA. Electronic address: rsteet@ggc.org.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: Kidney international [Kidney Int] 2023 Nov; Vol. 104 (5), pp. 995-1007. Date of Electronic Publication: 2023 Aug 19.

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: Polycystic Kidney Diseases*/genetics , Polycystic Kidney, Autosomal Dominant*/pathology, Animals ; Humans ; Infant, Newborn ; Mice ; Carrier Proteins/metabolism ; Cilia/pathology ; Kidney/metabolism ; Mutation ; NIMA-Related Kinases/genetics ; NIMA-Related Kinases/metabolism ; Protein Serine-Threonine Kinases/genetics ; Protein Serine-Threonine Kinases/metabolism ; Serine/genetics ; Serine/metabolism ; TRPP Cation Channels/genetics ; TRPP Cation Channels/metabolism

المؤلفون: Boulogne F; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Oncode Institute, Utrecht, The Netherlands., Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Wiersma H; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Oelen R; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Oncode Institute, Utrecht, The Netherlands., Schukking F; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., de Klein N; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Li S; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Westra HJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Oncode Institute, Utrecht, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Reekum F; Department of Nephrology, University Medical Center Utrecht, Utrecht, The Netherlands., Sierks D; Medical Department III - Endocrinology, Nephrology, Rheumatology Department of Internal Medicine, Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany., Schönauer R; Medical Department III - Endocrinology, Nephrology, Rheumatology Department of Internal Medicine, Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Li Z; Department of Internal Medicine (Nephrology), Yale School of Medicine, New Haven, CT, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bos WJW; Department of Internal Medicine, St Antonius Hospital, Nieuwegein, The Netherlands.; Department of Internal Medicine, Leiden University Medical Center, Leiden, The Netherlands., Halbritter J; Medical Department III - Endocrinology, Nephrology, Rheumatology Department of Internal Medicine, Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany.; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Knoers NVAM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Besse W; Department of Internal Medicine (Nephrology), Yale School of Medicine, New Haven, CT, USA., Deelen P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Oncode Institute, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Franke L; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Oncode Institute, Utrecht, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. A.vanEerde@umcutrecht.nl.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Nov; Vol. 31 (11), pp. 1300-1308. Date of Electronic Publication: 2023 Feb 20.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Kidney Diseases* , Kidney Diseases, Cystic* , Liver Diseases*, Humans ; Kidney ; Phenotype ; Gene Expression

المؤلفون: Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Snoek R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Knoers NVAM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2022 Sep; Vol. 190 (3), pp. 358-376. Date of Electronic Publication: 2022 Sep 26.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations*/genetics , Renal Insufficiency, Chronic*, Humans ; Genetic Testing/methods ; Phenotype ; Kidney ; High-Throughput Nucleotide Sequencing/methods ; Nucleotides

المؤلفون: Münch J; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany; Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany., Engesser M; Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany., Schönauer R; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany; Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany., Hamm JA; East Tennessee Children's Hospital, Genetic Center, Knoxville, Tennessee, USA., Hartig C; Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany., Hantmann E; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany; Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany., Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Department of Pediatrics, University of Utah, Salt Lake, Utah, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA; Texas Children's Hospital, Houston, Texas, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Department of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA., Tüysüz B; Department of Pediatric Genetics, Istanbul University Cerrahpasa Medical Faculty, Istanbul, Turkey., Shirakawa T; Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan., Dateki S; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Smol T; Centre Hospitalier Universitaire de Lille, Institut de Génétique Médicale, Lille, France., Devisme L; Centre Hospitalier Universitaire de Lille, Institut de Pathologie, Lille, France., Franquet H; Centre Hospitalier Universitaire de Lille, Institut de Pathologie, Lille, France., Attié-Bitach T; Laboratoire de biologie médicale multisites SeqOIA, Paris, France; Service de Médecine Génomique des Maladies Rares, APHP.Centre, Université de Paris, Paris, France., Wagner T; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Department of Medicine, Nephrology, University Hospital Freiburg, Freiburg, Germany., Höhn AK; Division of Pathology, University of Leipzig Medical Center, Leipzig, Germany., Shril S; Division of Nephrology, Boston Children's Hospital, Boston, USA., Pollack A; Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Wenger T; Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Scott AA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Paolucci S; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA., Buchan J; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA., Gabriel GC; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Texas Children's Hospital, Houston, Texas, USA; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Petit F; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France., McCarthy AA; European Molecular Biology Laboratory, Grenoble, France., Pazour GJ; Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Worcester, USA., Lo CW; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA. Electronic address: cel36@pitt.edu., Popp B; Institute for Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: bernt.popp@medizin.uni.leipzig.de., Halbritter J; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany; Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: jan.halbritter@charite.de.

مؤلفون مشاركون: Genomics England Research Consortium; Genomics England Research Consortium (GEL) - 100,000 Genomes Project, London, UK.

المصدر: Kidney international [Kidney Int] 2022 May; Vol. 101 (5), pp. 1039-1053. Date of Electronic Publication: 2022 Feb 26.

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: Urinary Tract*/pathology , Urogenital Abnormalities*/diagnosis , Urogenital Abnormalities*/genetics , Vesico-Ureteral Reflux*/diagnosis, Nerve Tissue Proteins/*genetics , Receptors, Immunologic/*genetics, Animals ; Child ; Female ; Humans ; Kidney/pathology ; Male ; Mice ; Roundabout Proteins

SCR Disease Name: Cakut