Zobrazeno 1 - 10 of 13 819 pro vyhledávání: '"LaCombe D"'
1
Akademický článek
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.
Autor: Margot H; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Pizano A; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France., Amestoy A; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France., Lacombe D; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Berges C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Beneteau C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France., Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada.
Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2024 Dec; Vol. 196 (4), pp. e32087. Date of Electronic Publication: 2024 Apr 09.
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4
Akademický článek
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Autor: Degoutin M; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Université de Bordeaux, UFR Des Sciences médicales, Bordeaux, France., Angelini C; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France., Bar C; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France.; Service de Neuropédiatrie, CHU Bordeaux, Bordeaux, France., El Khedoud WA; Laboratoire de Biologie Cellulaire et moléculaire, faculté Des Sciences Biologiques, USTHB, Algiers, Algeria., Barnerias C; Service de Neuropédiatrie, CR Neuromusculaire Necker, Hôpital Necker-Enfants Malades, Paris, France., Boulariah-Hadjou R; Laboratoire de Biologie Cellulaire et moléculaire, faculté Des Sciences Biologiques, USTHB, Algiers, Algeria., Estiar MA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ewenczyk C; Sorbonne Université, Institut du Cerveau, INSERM, CNRS, APHP, Paris, France., Gan-Or Z; Department of Human Genetics, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada., Lacombe D; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Centre de référence Maladies Rares Anomalies du développement Embryonnaire, CHU Bordeaux, Bordeaux, France.; Laboratoire Maladies Rares: Génétique et Métabolisme (MRGM) INSERM U1211, Université de Bordeaux, Bordeaux, France., Lefeuvre C; Service de Neurologie, APHP, Raymond Poincaré, Garches, France., Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Messaoud-Khelifi M; Laboratoire de Biologie Cellulaire et moléculaire, faculté Des Sciences Biologiques, USTHB, Algiers, Algeria., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Rouleau GA; Department of Human Genetics, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada., Suchowersky O; Department of Medicine, Medical Genetics and Pediatrics, University of Alberta, Edmonton, Canada., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Guillaud-Bataille M; Département de génétique médicale, AP-HP, Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, CGMC, Hôpital Pitié-Salpêtrière, Paris, France., Stevanin G; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France., Goizet C; Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.; Centre de référence Maladies Rares « neurogénétique », CHU Bordeaux, Bordeaux, France.; CNRS, INCIA, UMR 5287, NRGen Team, Univ. Bordeaux, EPHE, Bordeaux, France.
Publikováno v: European journal of neurology [Eur J Neurol] 2025 Jan; Vol. 32 (1), pp. e70025.
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5
Editorial & Opinion
Do regulations and policies undermine the social value of independent academic research?
Autor: Lacombe D; EORTC, Avenue E Mounier, 83, 1200 Brussels, Belgium. Electronic address: denis.lacombe@eortc.org., Borges FC; EORTC, Avenue E Mounier, 83, 1200 Brussels, Belgium.
Publikováno v: European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2024 Dec; Vol. 213, pp. 115076. Date of Electronic Publication: 2024 Oct 19.
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6
Akademický článek
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Autor: Margot H; Medical Genetics Departement, CHU de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France., Jones N; Cancer Genetics Unit, Institut Bergonié, Bordeaux, Aquitaine, France., Matis T; Cancer Genetics Unit, Institut Bergonié, Bordeaux, Aquitaine, France., Bonneau D; U771-CNRS6214, UMR INSERM, Angers, France.; School of Medicine, University of Angers, Angers, France., Busa T; Medical Genetics Departement, Marseille Public University Hospital System, Marseille, France., Bonnet F; Cancer Genetics Unit, Institut Bergonié, Bordeaux, Aquitaine, France., Conrad S; Medical Genetics Departement, University Hospital Centre Nantes, Nantes, Pays de la Loire, France., Crivelli L; Department of Oncogenetics, Centre Eugene Marquis, Rennes, Bretagne, France., Monin P; Medical Genetics Departement, Centre Hospitalier Universitaire de Lyon, Lyon, Rhône-Alpes, France., Fert-Ferrer S; Medical Genetics Departement, Centre Hospitalier Métropole Savoie, Chambery, France., Mortemousque I; Cancer Genetics Unit, Centre Hospitalier Régional Universitaire de Tours, Tours, Centre-Val de Loire, France., Raad S; Cancer Genetics Unit, Institut Bergonié, Bordeaux, Aquitaine, France., Lacombe D; Department of Medical Genetics, CHU Bordeaux GH Pellegrin, Bordeaux, Aquitaine, France.; MRGM INSERM U1211, Universite de Bordeaux College Sciences de la Sante, Bordeaux, Nouvelle-Aquitaine, France., Caux F; Hospital Avicenne Internal Medicine Service, Bobigny, Île-de-France, France., Sevenet N; Cancer Genetics Unit, Institut Bergonié, Bordeaux, Aquitaine, France.; UMR1312, INSERM, BoRdeaux Institute of onCology, Bordeaux, France., Bubien V; Cancer Genetics Unit, Institut Bergonié, Bordeaux, Aquitaine, France v.bubien@bordeaux.unicancer.fr., Longy M; Cancer Genetics Unit, Institut Bergonié, Bordeaux, Aquitaine, France.; UMR1312, INSERM, BoRdeaux Institute of onCology, Bordeaux, France.
Publikováno v: Journal of medical genetics [J Med Genet] 2024 Nov 25; Vol. 61 (12), pp. 1071-1079. Date of Electronic Publication: 2024 Nov 25.
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7
Akademický článek
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Autor: Dollfus H; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. dollfus@unistra.fr.; Université de Strasbourg, UMRS_1112, Strasbourg, France. dollfus@unistra.fr., Lilien MR; ERKNet Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands., Maffei P; Endo-ERN Department of Medicine (DIMED), 3rd Medical Clinic, Padua University, Padua, Italy., Verloes A; ERN-ITHACA Department of Genetics, AP-HP - Université de Paris; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert Debré, Paris, France., Muller J; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Bacci GM; ERN-EYE Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, University of Florence, Florence, Italy., Cetiner M; ERKNet Children's Hospital, Pediatrics II, University of Essen, Essen, Germany., van den Akker ELT; Endo-ERN Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia, University Medical Center Rotterdam, Rotterdam, The Netherlands., Grudzinska Pechhacker M; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Testa F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Lacombe D; ERN-ITHACA Department of Medical Genetics, CHU Bordeaux, INSERM Unit_1211, Laboratory 'Rare Diseases: Genetics and Metabolism', University of Bordeaux, Bordeaux, France., Stokman MF; ERKNet Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Simonelli F; ERN-EYE Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Gouronc A; ERN-EYE Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique (CRMR CARGO), Institut de Génétique Médicale d'Alsace (IGMA), FSMR SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Université de Strasbourg, UMRS_1112, Strasbourg, France.; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Unité Fonctionnelle de Bioinformatique Médicale Appliquée au Diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg, France., Gavard A; ERN-EYE Coordination Center, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., van Haelst MM; ERN-ITHACA Department of Human Genetics, Section Clinical Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Koenig J; ERKNet University Children's Hospital Muenster, Muenster, NRW, Germany., Rossignol S; Endo-ERN Département de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Bergmann C; Department of Medicine IV, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany., Zacchia M; ERKNet Division of Nephrology, Department of Translational Medical Sciences, University of Campania 'L. Vanvitelli', Naples, Italy., Leroy BP; ERN-EYE Department of Ophthalmology & Department of Head & Skin, Ghent University Hospital and Ghent University, Ghent, Belgium.; Center for Cellular and Molecular Therapeutics and Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mosbah H; Endo-ERN Department of Endocrinology, Diabetology & Nutrition, University Hospital of Poitiers, Poitiers, France., Van Eerde AM; ERKNet Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mekahli D; ERKNet PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Servais A; ERKNet Department of Kidney and Metabolic Diseases, Transplantation and Clinical Immunology, Necker Hospital, AP-HP, Centre of Reference for the French Nationwide MARHEANetwork (CNR-MARHEA), Paris, France.; Inserm U1163, Imagine Institute, Paris, France., Poitou C; Endo-ERN Centre de Référence pour les obésités rares (CRMR PRADORT), Assistance Publique Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Sorbonne Université, INSERM, Nutrition & Obesities: Systemic Approaches Research Group (NutriOmics), Paris, France., Valverde D; CINBIO, Universidad de Vigo, Grupo de Investigación en Enfermedades Raras, Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Vigo, Spain.
Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1347-1360. Date of Electronic Publication: 2024 Jul 31.
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8
Akademický článek
Mitochondrial functions and rare diseases
Autor: Dard, L. a, b, d, Blanchard, W. a, b, d, Hubert, C. a, b, Lacombe, D. a, b, c, Rossignol, R. a, b, d, ∗
Publikováno v: In Molecular Aspects of Medicine February 2020 71
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9
Akademický článek
Rôle du généticien dans un parcours de soins en pédiatrie
Autor: Angelini, C. a, b, Margot, H. a, b, Lacombe, D. a, b, c, Legendre, M. a, ⁎, b
Publikováno v: In Perfectionnement en Pédiatrie September 2019 2(3):217-223
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10
Akademický článek
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.
Autor: Fauqueux J; Univ. Lille, ULR7364 RADEME, Lille, France., Boussion S; Univ. Lille, ULR7364 RADEME, Lille, France.; CHU Lille, Clinique de Génétique, Lille, France., Thuillier C; CHU Lille, Institut de Génétique Médicale, Lille, France., Meurisse E; Univ. Lille, ULR7364 RADEME, Lille, France., Lacombe D; Univ. Bordeaux, UMR1211 - MRGM - Maladies Rares Génétique et Métabolisme, Bordeaux, France.; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France., Willems M; CHU Montpellier, Département de Génétique Médicale, Centre de Référence Anomalies du Développement, Montpellier, France.; Univ. Montpellier, Inserm, Institute for Neurosciences of Montpellier, Montpellier, France., Piton A; IGBMC, Neurogenetics and Translational Medicine, Illkirch-Graffenstaden, France.; CHU Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg, France., Ait-Yahya E; CHU Lille, Unité de Bio-informatique, Plateau de Biologie-Moléculaire, Lille, France., Ghoumid J; Univ. Lille, ULR7364 RADEME, Lille, France.; CHU Lille, Clinique de Génétique, Lille, France., Smol T; Univ. Lille, ULR7364 RADEME, Lille, France thomas.smol@chu-lille.fr.; CHU Lille, Institut de Génétique Médicale, Lille, France.
Publikováno v: Journal of medical genetics [J Med Genet] 2024 Oct 23; Vol. 61 (11), pp. 1040-1044. Date of Electronic Publication: 2024 Oct 23.
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