Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

Autor: Viering DHHM; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Hureaux M; Reference Center for Hereditary Kidney and Childhood Diseases (Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, MARHEA), Paris, France.; Department of Genetics, Hôpital Européen Georges-Pompidou, Assistance Publique Hôpitaux de Paris, Paris, France.; Paris CardioVascular Research Center, Institut National de la Santé et de Recherche Médicale (INSERM) U970, Paris City University, Paris, France., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Latta F; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Kwint M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Blanchard A; Reference Center for Hereditary Kidney and Childhood Diseases (Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, MARHEA), Paris, France.; Clinical Investigations Center, Hôpital Européen Georges-Pompidou, Assistance Publique Hôpitaux de Paris, Paris, France.; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, University of Paris, Centre National de la Recherche Scientifique (CNRS), Paris, France., Konrad M; Department of General Pediatrics, University Children's Hospital, Münster, Germany., Bindels RJM; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Schlingmann KP; Department of General Pediatrics, University Children's Hospital, Münster, Germany., Vargas-Poussou R; Reference Center for Hereditary Kidney and Childhood Diseases (Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, MARHEA), Paris, France.; Department of Genetics, Hôpital Européen Georges-Pompidou, Assistance Publique Hôpitaux de Paris, Paris, France.; Clinical Investigations Center, Hôpital Européen Georges-Pompidou, Assistance Publique Hôpitaux de Paris, Paris, France., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2023 Feb 01; Vol. 34 (2), pp. 333-345. Date of Electronic Publication: 2022 Nov 09.

Higher SBP in female patients with mitochondrial disease.

Autor: Viering DHHM; Department of Physiology., van Borselen MD; Department of Physiology., Deinum J; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands., Bindels RJM; Department of Physiology., de Baaij JHF; Department of Physiology., Janssen MCH; Department of Internal Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, the Netherlands.

Publikováno v: Journal of hypertension [J Hypertens] 2022 May 01; Vol. 40 (5), pp. 940-946. Date of Electronic Publication: 2022 Feb 07.

Genetics of renovascular hypertension in children.

Autor: Viering DHHM; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Chan MMY; Department of Renal Medicine, Division of Medicine, University College London, London, United Kingdom., Hoogenboom L; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust., Iancu D; Department of Renal Medicine, Division of Medicine, University College London, London, United Kingdom., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Tullus K; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust., Kleta R; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust.; Department of Renal Medicine, Division of Medicine, University College London, London, United Kingdom., Bockenhauer D; Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust.; Department of Renal Medicine, Division of Medicine, University College London, London, United Kingdom.

Publikováno v: Journal of hypertension [J Hypertens] 2020 Oct; Vol. 38 (10), pp. 1964-1970.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Autor: Cabezas OR; Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Flanagan SE; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom., Stanescu H; University College London Centre for Nephrology, University College London, London, United Kingdom., García-Martínez E; Pediatric Nephrology, Hospital Universitario Reina Sofía, Córdoba, Spain., Caswell R; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom., Lango-Allen H; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom., Antón-Gamero M; Pediatric Nephrology, Hospital Universitario Reina Sofía, Córdoba, Spain., Argente J; Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.; Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; Madrid Institute for Advanced Studies on Food, Comité de Ética de la Investigación de la Universidad Autónoma de Madrid, and Centro Superior de Investigaciones Científicas, Carretera de Cantoblanco 8.28049, Madrid, Spain., Bussell AM; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom., Brandli A; Walter-Brendel-Center of Experimental Medicine, Ludwig-Maximilians-University Munich, Munich, Germany., Cheshire C; University College London Centre for Nephrology, University College London, London, United Kingdom., Crowne E; University of Bristol and Bristol Royal Hospital for Children, Bristol, United Kingdom., Dumitriu S; University College London Centre for Nephrology, University College London, London, United Kingdom., Drynda R; Diabetes Research Group, King's College, London, United Kingdom., Hamilton-Shield JP; University of Bristol and Bristol Royal Hospital for Children, Bristol, United Kingdom., Hayes W; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Hofherr A; Renal Division, Department of Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Iancu D; University College London Centre for Nephrology, University College London, London, United Kingdom., Issler N; University College London Centre for Nephrology, University College London, London, United Kingdom., Jefferies C; Starship Children's Hospital, Liggins Institute, University of Auckland, Auckland, New Zealand., Jones P; Diabetes Research Group, King's College, London, United Kingdom., Johnson M; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom., Kesselheim A; University College London Centre for Nephrology, University College London, London, United Kingdom., Klootwijk E; University College London Centre for Nephrology, University College London, London, United Kingdom., Koettgen M; Renal Division, Department of Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Lewis W; East of Scotland Genetic Service, Dundee, United Kingdom., Martos JM; Pediatric Endocrinology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain., Mozere M; University College London Centre for Nephrology, University College London, London, United Kingdom., Norman J; University College London Centre for Nephrology, University College London, London, United Kingdom., Patel V; University College London Centre for Nephrology, University College London, London, United Kingdom., Parrish A; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom., Pérez-Cerdá C; Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, Center for Biomedical Research in Rare diseases, Instituto de Investigacion Hospital Universitario La Paz, Madrid, Spain., Pozo J; Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Rahman SA; University College London Institute of Child Health, London, United Kingdom., Sebire N; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; University College London Institute of Child Health, London, United Kingdom., Tekman M; University College London Centre for Nephrology, University College London, London, United Kingdom., Turnpenny PD; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Hoff WV; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Viering DHHM; University College London Centre for Nephrology, University College London, London, United Kingdom., Weedon MN; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom., Wilson P; University College London Centre for Nephrology, University College London, London, United Kingdom., Guay-Woodford L; Children's National Health System, Washington, DC; and., Kleta R; University College London Centre for Nephrology, University College London, London, United Kingdom.; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; University College London Institute of Child Health, London, United Kingdom., Hussain K; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Department of Pediatric Medicine, Sidra Medical and Research Center, Doha, Qatar., Ellard S; University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom., Bockenhauer D; University College London Centre for Nephrology, University College London, London, United Kingdom.; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; University College London Institute of Child Health, London, United Kingdom.

Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2017 Aug; Vol. 28 (8), pp. 2529-2539. Date of Electronic Publication: 2017 Apr 03.