A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.

Autor: Boudet-Berquier J; Non-Communicable Diseases and Injuries Department, Santé Publique France, Saint Maurice, France. Julie.BOUDET-BERQUIER2@santepubliquefrance.fr., Demattei C; Department of Biostatistics, Clinical Epidemiology, Public Health and Innovation in Methodology (BESPIM), Centre Hospitalier Universitaire de Nîmes, Nîmes, Languedoc-Roussillon, France., Guldner L; Environment and Work Department, Santé Publique France, Saint Maurice, Health, France., Gallay A; Non-Communicable Diseases and Injuries Department, Santé Publique France, Saint Maurice, France., Manouvrier S; Reference Centre of Developmental Anomalies and Defect Syndromes, RADEME Maladies Rares du Développement Et du Métabolisme, Université Lille, 7364, Lille, EA, France., Botton J; EPI-PHARE Scientific Interest Group in Epidemiology of Health Products from the French National Agency for the Safety of Medicines and Health Products and the French National Health Insurance, Saint-Denis, France.; Faculty of Pharmacy, Paris-Saclay University, Orsay, France., Philippat C; Institute for Advanced Biosciences, INSERM U1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France., Delva F; INSERM, BPH, UMR1219, EPICENE Team, University of Bordeaux, Bordeaux, France.; Environmental and Occupational Health Department, Bordeaux University Hospital, 33000, Bordeaux, France., Bloch J; ANSES, Maisons-Alfort, France., Semaille C; Executive Department, Santé Publique France, Saint-Maurice, France., Odent S; Reference Centre of Developmental Anomalies and Defect Syndromes, Hôpital Sud, CHU de Rennes, Rennes, France., Perthus I; Auvergne registry of congenital anomalies (CEMC-Auvergne), Department of clinical genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France., Randrianaivo H; La Réunion registry of congenital anomalies, Centre Hospitalier Universitaire de La Réunion, Île de la Réunion, France., Babajko S; Molecular Oral Pathophysiology Laboratory, Centre de Recherche des Cordeliers, INSERM UMRS, Université Paris Cité, Sorbonne Université, 1138, Paris, France.; Fédération Hospitalo-Universitaire DDS-ParisNet, INSERM, Université Paris Cité, Assistance Publique-Hôpitaux de Paris, Paris, France.; UR2496, Biomedical Research in Odontology, Université Paris Cité, Montrouge, France., Barjat T; Department of Gynecology and Obstetrics, Centre Hospitalier Universitaire de Saint-Étienne, Saint-Étienne, France.; INSERM U1059 SAINBIOSE, Université Jean Monnet, Saint-Étienne, France., Beneteau C; Department of Human Genetics, University Hospital Hôtel Dieu, Nantes, France., Brennetot N; French National Reference for Children Limb Defect, Hôpitaux de Saint-Maurice, Saint Maurice, France., Garne E; Department of Pediatrics and Adolescent Medicine, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark., Haddad G; CH Simone Veil, Blois, France., Hocine M; Conservatoire National des Arts et Métiers, Paris, France., Lacroix I; REGARDs Network, Pharmacologie Médicale et Clinique, CERPOP INSERM UMR 1295-SPHERE team, Faculté de Médecine Université de Toulouse, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Leuraud K; Institute for Radiological Protection and Nuclear Safety (IRSN), Fontenay-aux-Roses, France., Mench M; INRAE, BIOGECO, UMR 1202, University of Bordeaux, F‑33615, Pessac, France., Morris J; Population Health Research Institute, St George's University of London, London, UK., Patrier S; Department of Pathology, Rouen University Hospital, Rouen, France., Sartelet A; Clinical Department of Ruminant, University of Liège, 4000, Liège, Belgium., Verloes A; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France., Bonaldi C; Methodology and Biostatistics Department, Santé Publique France, Saint Maurice, France., Le Barbier M; Environment and Work Department, Santé Publique France, Saint Maurice, Health, France., Gagnière B; Cellule Bretagne, Santé Publique France, Rennes, France., Pépin P; Cellule Auvergne-Rhône-Alpes, Santé Publique France, Clermont-Ferrand, France., Ollivier R; Cellule Pays-de-la Loire, Santé Publique France,, Nantes, France., Bitoun M; Cellule Pays-de-la Loire, Santé Publique France,, Nantes, France., King L; Cellule Pays-de-la Loire, Santé Publique France,, Nantes, France., Guajardo-Villar A; Methodology and Biostatistics Department, Santé Publique France, Saint Maurice, France., Gomes E; Non-Communicable Diseases and Injuries Department, Santé Publique France, Saint Maurice, France., Desenclos JC; ANSES, Maisons-Alfort, France., Regnault N; Non-Communicable Diseases and Injuries Department, Santé Publique France, Saint Maurice, France., Benachi A; Department of Obstetrics and Gynecology, DMU Santé des femmes et des nouveau-nés, Hopital Antoine Béclère, Assistance Publique-Hôpitaux de Paris, Université Paris Saclay, Clamart, France.

Publikováno v: European journal of epidemiology [Eur J Epidemiol] 2024 Jul; Vol. 39 (7), pp. 753-771. Date of Electronic Publication: 2024 Apr 27.

Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients

Autor: Renouil, M., Stojkovic, T., Jacquemont, M.L., Lauret, K., Boué, P., Fourmaintraux, A., Randrianaivo, H., Tallot, M., Mignard, D., Roelens, P., Tabailloux, D., Bernard, R., Cartault, F., Chane-Thien, E., Dubourg, O., Ferrer, X., Sole, G., Fournier, E., Latour, P., Lacour, A., Mignard, C.

Publikováno v: In Revue Neurologique August-September 2013 169(8-9):603-612

À propos d’un cas de syndrome de Treacher-Collins : apports de l’échographie dans le diagnostic et la prise en charge

Autor: Andres-Plante, F., Plante, T., Randrianaivo, H., Kauffmann, E.

Publikováno v: In La Revue Sage-Femme February 2012 11(1):2-8

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Autor: Mannucci I; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Dang NDP; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA., Huber H; Department of Biochemistry, Theodor Boveri Institute, Biocenter of the University of Würzburg, 97070, Würzburg, Germany., Murry JB; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA., Abramson J; Department of Physiology, University of California Los Angeles, Los Angeles, CA, USA., Althoff T; Department of Physiology, University of California Los Angeles, Los Angeles, CA, USA., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Baynam G; Faculty of Medicine and Health Sciences, University of Western Australia, Perth, WA, Australia.; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.; Telethon Kids Institute, Perth, Australia., Bearden D; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA., Beleza-Meireles A; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol, UK., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Berland S; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Bilan F; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; Laboratoire de Neurosciences Cliniques et Expérimentales-INSERM U1084, Université de Poitiers, Poitiers, France., Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Department of Neurology, Haukeland University Hospital, Bergen, Norway., Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Chenbhanich J; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Denecke J; Department of Pediatrics, University Medical Center Eppendorf, 20246, Hamburg, Germany., Escobar LF; Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA., Estes C; Peyton Manning Children's Hospital, Ascension Health, Indianapolis, IN, USA., Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, 62702, USA., Groepper D; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, 62702, USA., Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Holler-Managan Y; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Houge G; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway., Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Kellogg L; Kaiser Permanente Sacramento, Sacramento, USA., Keren B; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Kiraly-Borri C; Genetic Services of Western Australia, Perth, Western Australia, 6008, Australia., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Le Guyader G; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; Laboratoire de Neurosciences Cliniques et Expérimentales-INSERM U1084, Université de Poitiers, Poitiers, France., Ljungblad UW; Department of Pediatrics, Vestfold Hospital, 3116, Tønsberg, Norway., Brenman LM; Department of Genetics, Kaiser Permanente Northern California, Oakland, USA., Martinez-Agosto JA; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Semel Institute of Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Division of Medical Genetics at David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics at David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, USA., Might M; Department of Medicine, Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, 510 20th St S, Birmingham, AL, 35210, USA., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Minks KQ; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY, USA., Moghaddam B; Kaiser Permanente Sacramento, Sacramento, USA., Nava C; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Nelson SF; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics at David Geffen School of Medicine University of California Los Angeles, Los Angeles, CA, USA.; Center for Duchenne Muscular Dystrophy, University of California Los Angeles, Los Angeles, CA, USA., Parant JM; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA., Prescott T; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Randrianaivo H; UF de Génétique Médicale, GHSR, CHU de La Réunion, Saint Pierre, La Réunion, France., Reiter SF; Department of Medical Genetics, Haukeland University Hospital, 5021, Bergen, Norway., Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands., Shieh PB; Department of Neurology at David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Smithson S; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol, UK., Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Tomczak K; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Wang J; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA., Whitlock JH; Department of Medicine, Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, 510 20th St S, Birmingham, AL, 35210, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010, Bern, Switzerland., McWalter K; GeneDx, Gaithersburg, MD, 20877, USA., Juusola J; GeneDx, Gaithersburg, MD, 20877, USA., Quintero-Rivera F; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, School of Medicine, University of California Irvine, Irvine, CA, USA., Fischer U; Department of Biochemistry, Theodor Boveri Institute, Biocenter of the University of Würzburg, 97070, Würzburg, Germany., Yeo NC; Department of Pharmacology and Toxicology, University of Alabama, Birmingham, USA. nyeo@uab.edu., Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. kreienkamp@uke.de., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. d.lessel@uke.de.

Publikováno v: Genome medicine [Genome Med] 2021 May 21; Vol. 13 (1), pp. 90. Date of Electronic Publication: 2021 May 21.

Amniotic band syndrome and limb body wall complex in Europe 1980-2019.

Autor: Bergman JEH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Barišić I; Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia., Addor MC; Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland., Braz P; RENAC-Registo Nacional de Anomalias Congénitas, Epidemiology Department, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal., Cavero-Carbonell C; Rare Diseases Research Unit, Foundation for the Promotion of the Research in Healthcare and Biomedicine, Valencia, Spain., Draper ES; Department of Health Sciences, University of Leicester, Leicester, UK., Echevarría-González-de-Garibay LJ; Directorate for Healthcare Planning, Organisation and Evaluation, Ministry of Health of the Basque Government, Vitoria Gasteiz, Spain., Gatt M; Malta Congenital Anomalies Registry, Directorate for Health Information and Research, G'mangia, Malta., Haeusler M; Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria., Khoshnood B; Université de Paris Cité, Obstetrical Perinatal and Paediatric Epidemiology Research Team (EPOPé), CRESS, INSERM, INRA, Paris, France., Klungsøyr K; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.; Department of Health Promotion, Norwegian Institute of Public Health, Bergen, Norway., Kurinczuk JJ; National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK., Latos-Bielenska A; Polish Registry of Congenital Malformations, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland., Luyt K; South West Congenital Anomaly Register (SWCAR), Bristol Medical School, University of Bristol, Bristol, UK., Martin D; NCARDRS, NHS Digital, Leeds, UK., Mullaney C; Department of Public Health, HSE South East Area, Dublin, Ireland., Nelen V; Provincial Institute of Hygiene, Antwerp, Belgium., Neville AJ; IMER Registry, Centre for Clinical and Epidemiological Research, University of Ferrara and Azienda Ospedaliero Universitario di Ferrara, Ferrara, Italy., O'Mahony MT; Department of Public Health HSE-South, St Finbarr's Hospital, Cork, Ireland., Perthus I; Auvergne Registry of Congenital Anomalies (CEMC-Auvergne), Department of Clinical Genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France., Pierini A; Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy., Randrianaivo H; Unit of Genetic Medical and Register of Congenital Malformations, CHU St Pierre La Reunion, Réunion, France., Rankin J; South West Congenital Anomaly Register (SWCAR), Bristol Medical School, University of Bristol, Bristol, UK.; Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, UK., Rissmann A; Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany., Rouget F; Brittany Registry of Congenital Anomalies, CHU Rennes, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail), UMR_S 1085, Rennes, France., Sayers G; National Health Intelligence Unit, R&D Health Service Executive, Dublin, Ireland., Schaub B; French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France, France., Stevens S; NCARDRS, NHS Digital, Leeds, UK., Tucker D; Congenital Anomaly Register & Information Service for Wales (CARIS), Public Health Wales, Swansea, UK., Verellen-Dumoulin C; Eurocat Hainaut-Namur, Institut de Pathologie et de Génétique, Charleroi, Belgium., Wiesel A; Births Registry Mainz Model, University of Mainz Medical Center, Mainz, Germany., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Perraud A; European Commission, Joint Research Centre (JRC), Ispra, Italy., Loane MA; Faculty of Life & Health Sciences, Ulster University, Northern Ireland, UK., Wellesley D; Faculty of Medicine and Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton, Southampton, UK., de Walle HEK; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Apr; Vol. 191 (4), pp. 995-1006. Date of Electronic Publication: 2022 Dec 30.