Zobrazeno 1 - 10 of 71 pro vyhledávání: '"Debray FG"'
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Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15
Autor: Dubé J, Rachel Laframboise, Bruno Maranda, D Fenyves, Grant A. Mitchell, Marie Lambert, Drouin R, Jean-François Soucy, Debray Fg, B Lemieux
Publikováno v: Journal of medical genetics. 45(11)
Background: Hyperornithinaemia–hyperammonaemia–homocitrullinuria (HHH) syndrome (OMIM 238970) is caused by impaired ornithine transport across the inner mitochondrial membrane due to mutations in SLC25A15 . To date, 22 different mutations of the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f446207ed38fe87529b5e478cf21f1c
https://pubmed.ncbi.nlm.nih.gov/18978333
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4
Akademický článek
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7
Akademický článek
[Neurodevelopmental impact of a mutation in the RHOBTB2 gene].
Autor: Beckers M; Médecine Générale, Limbourg Belgique., Stevens R; Service de Neuropédiatrie, CHC MontLégia, Liège, Belgique., Debray FG; Centre de Génétique, CHU de Liège, Liège, Belgique., Leroy P; Service de Neuropédiatrie, CHU de Liège, Liège, Belgique.
Publikováno v: Revue medicale de Liege [Rev Med Liege] 2024 Jul; Vol. 79 (7-8), pp. 467-470.
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8
Akademický článek
Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study.
Autor: Everard E; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium. Electronic address: emilie.everard@saintluc.uclouvain.be., Laeremans H; Centre de Dépistage Néonatal de l'ULB, Brussels, Belgium. Electronic address: h.laeremans@lifelines.nl., Boemer F; Biochemical Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liège, Belgium. Electronic address: f.boemer@chuliege.be., Marie S; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium. Electronic address: sandrine.marie@saintlucuclouvain.be., Vincent MF; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium. Electronic address: marie-francoise.vincent@saintlucuclouvain.be., Dewulf JP; Laboratoire des Maladies Métaboliques Héréditaires/Biochimie Génétique et Centre de Dépistage Néonatal, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium. Electronic address: joseph.dewulf@saintluc.uclouvain.be., Debray FG; Department of Medical Genetics, CHU Sart-Tilman, Liège, Belgium. Electronic address: fg.debray@chuliege.be., De Laet C; Nutrition and Metabolism Unit, Department of Pediatrics, University Children's Hospital Queen Fabiola, Brussels, Belgium. Electronic address: corinne.delaet@huderf.be., Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
Publikováno v: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Mar; Vol. 49, pp. 60-65. Date of Electronic Publication: 2024 Feb 07.
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9
Akademický článek
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Autor: Tangeraas T; Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway.; European Reference Network for Hereditary Metabolic Diseases (MetabERN)., Constante JR; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain., Backe PH; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet, PO Box 4950 Nydalen, OUS HF Rikshospitalet, 0424 Oslo, Norway.; Department of Microbiology, Clinic for Diagnostics and Intervention, Oslo University Hospital, Rikshospitalet, Nydalen, N-0424 Oslo, Norway., Oyarzábal A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain., Neugebauer J; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany., Weinhold N; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Pediatric Gastroenterology, Nephrology and Metabolic Medicine, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany., Boemer F; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Biochemical Genetics Laboratory, Human Genetics, CHU of Liege, University of Liège, Liège 4000, Belgium., Debray FG; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Human Genetics, CHU of Liege, University of Liège, Liège 4000, Belgium., Ozturk-Hism B; Department of Pediatric Metabolic Diseases, Marmara University School of Medicine, Istanbul 34854, Turkey., Evren G; Department of Medical Genetics, University of Harran, 63000 Sanliurfa, Turkey., Tuba EF; Department of Pediatric Metabolism, Ankara University School of Medicine, 06100 Ankara, Turkey., Ummuhan O; Department of Pediatric Metabolism, Ankara University School of Medicine, 06100 Ankara, Turkey., Footitt E; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Metabolic Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC), London WC1N 3JH, UK., Davison J; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Metabolic Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC), London WC1N 3JH, UK., Martinez C; Department of Pediatrics and Psychiatry, The Mount Sinai Hospital, New York, NY 1468, USA., Bueno C; Department of Neurology, Clinical Hospital of the Faculty of Medicine, University of São Paulo, São Paulo 05403-010, Brazil., Machado I; Neuropediatric Department, Hospital Universitario Clínico San Cecilio, Granada 18016, Spain., Rodríguez-Pombo P; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Institute for Molecular Biology-IUBM, Universidad Autónoma Madrid, CIBERER, IDIPAZ, 28049 Madrid, Spain., Al-Sannaa N; Pediatric Services Division, Johns Hopkins Aramco Healthcare, Dhahran 34465, Saudi Arabia., De Los Santos M; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Neurometabolic Unit, Department of Gastroenterology and Nutrition, Sant Joan de Déu Hospital, Barcelona 08950, Spain., López JM; Institut de Recerca Sant Joan de Déu, Pediatric Radiology Department Esplugues de Llobregat, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Ozturkmen-Akay H; Department of Radiology, Baskent University School of Medicine, Ankara 06790, Turkey., Karaca M; Department of Pediatric Metabolic Diseases, University of Harran, Sanliurfa 63000, Turkey., Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics and John P.Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Pajares S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, Barcelona 08036, Spain., Ormazabal A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Barcelona 08950, Spain., Stoway SD; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo 0424, Norway.; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, NY 55905, USA., Artuch R; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Department of Clinical Biochemistry, Sant Joan de Déu Hospital, Barcelona 08950, Spain., Dixon M; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Dietetics, Great Ormond Street Hospital for Children, NHS Foundation Trust, London WC1N, 3JH, UK., Mørkrid L; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Department of Medical Biochemistry, Oslo University Hospital-Rikshospitalet, PO Box 4950 Nydalen, OUS HF Rikshospitalet, 0424 Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, Nydalen, Oslo 0424, Norway., García-Cazorla A; European Reference Network for Hereditary Metabolic Diseases (MetabERN).; Neurometabolic Unit and Synaptic Metabolism Laboratory, Department of Neurology, Sant Joan de Déu Hospital, IPR, Barcelona 08950, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.
Publikováno v: Brain : a journal of neurology [Brain] 2023 Jul 03; Vol. 146 (7), pp. 3003-3013.
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10
Akademický článek
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Autor: Aerden M; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. mio.aerden@uzleuven.be., Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Bonneau D; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Delanne J; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Gérard B; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Mazel B; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Pinson L; Service de génétique - Centre de Référence Anomalies du Développement CLAD Sud Est, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Prouteau C; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Putoux A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs Centre Est, Hospices Civils de Lyon, Lyon, France., Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Viora-Dupont É; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Ziegler A; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg, France., Isidor B; Service de Genetique Medicale, CHU de Nantes & Inserm, CNRS, Universite de Nantes, l'institut du thorax, Nantes, France., Francannet C; Service de Genetique Medicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Maillard PY; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Julia S; Service de Génétique Clinique, CHU Toulouse, Toulouse, France., Philippe A; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Schaefer E; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hoffer M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Legius E; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Theunis M; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Buratti J; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Charles P; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Courtin T; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Misra-Isrie M; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., van Haelst M; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Wieczorek D; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Schmetz A; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Debray FG; Centre Hospitalier Universitaire de Liège, Center of Human Genetics, Liège, Belgium., Bramswig NC; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Atallah I; Lausanne University Hospital, Division of Genetic Medicine, Lausanne, Switzerland., Fodstad H; Lausanne University Hospital, Division of Genetic Medicine, Lausanne, Switzerland., Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg., Almoguera B; Fundación Jiménez Díaz Hospital, Department of Genetics and Genomics, Madrid, Spain., Tahsin-Swafiri S; Fundación Jiménez Díaz Hospital, Department of Genetics and Genomics, Madrid, Spain., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Molecular Diagnostics and Clinical Genetics Unit (UDMGC), Hospital Universitari Son Espses, IdISBa, Palma, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., López-González V; Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Sección de Genética Médica, Servicio de Pediatría, Murcia, Spain., Kibaek M; Pediatric Department, Odense University Hospital, Odense, Denmark., Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Õunap K; Tartu University Hospital, Genetic and Personalized Medicine Clinic, Department of Clinical Genetics, Tartu, Estonia.; University of Tartu, Institute of Clinical Medicine, Tartu, Estonia., Wojcik M; Department of Pediatrics, Boston Children's Hospital, Divisions of Newborn Medicine and Genetics and Genomics, Boston, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Van Esch H; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. hilde.vanesch@uzleuven.be.
Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Apr; Vol. 31 (4), pp. 461-468. Date of Electronic Publication: 2023 Feb 07.
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