Zobrazeno 1 - 10
of 6 776
pro vyhledávání: '"VIDAUD, M."'
Autor:
Pacot L; AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Vidaud D; AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Ye M; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Chansavang A; AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Coustier A; AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France., Maillard T; AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France., Barbance C; AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France., Laurendeau I; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Hébrard B; Department of Genetics, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France., Lunati-Rozie A; Department of Genetics, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France., Funalot B; Department of Genetics, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France., Wolkenstein P; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM, Clinical Investigation Center 1430, Referral Center of Neurofibromatosis, Hôpital Henri Mondor, AP-HP, Faculté de Santé Paris Est Créteil, Créteil, France., Vidaud M; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; LBMM SeqOIA, AP-HP, Paris, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Université de Rouen Normandie, Rouen, France., Morice-Picard F; Pediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France., Hadjadj D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Parfait B; AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Pasmant E; AP-HP, Hôpital Cochin, DMU BioPhyGen, Université Paris Cité, Paris, France. eric.pasmant@inserm.fr.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France. eric.pasmant@inserm.fr.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2024 Sep 08; Vol. 9 (1), pp. 41. Date of Electronic Publication: 2024 Sep 08.
Autor:
Pasmant, E., Louvrier, C., Luscan, A., Cohen, J., Laurendeau, I., Vidaud, M., Vidaud, D., Goutagny, S., Kalamarides, M., Parfait, B.
Publikováno v:
In Neurochirurgie November 2018 64(5):335-341
Autor:
Matuozzo, D, Talouarn, E, Marchal, A, Zhang, P, Manry, J, Seeleuthner, Y, Zhang, Y, Bolze, A, Chaldebas, M, Milisavljevic, B, Gervais, A, Bastard, P, Asano, T, Bizien, L, Barzaghi, F, Abolhassani, H, Abou Tayoun, A, Aiuti, A, Alavi Darazam, I, Allende, Lm, Alonso-Arias, R, Arias, Aa, Aytekin, G, Bergman, P, Bondesan, S, Bryceson, Yt, Bustos, Ig, Cabrera-Marante, O, Carcel, S, Carrera, P, Casari, G, Chaïbi, K, Colobran, R, Condino-Neto, A, Covill, Le, Delmonte, Om, El Zein, L, Flores, C, Gregersen, Pk, Gut, M, Haerynck, F, Halwani, R, Hancerli, S, Hammarström, L, Hatipoğlu, N, Karbuz, A, Keles, S, Kyheng, C, Leon-Lopez, R, Franco, Jl, Mansouri, D, Martinez-Picado, J, Metin Akcan, O, Migeotte, I, Morange, P, Morelle, G, Martin-Nalda, A, Novelli, G, Novelli, A, Ozcelik, T, Palabiyik, F, Pan-Hammarström, Q, de Diego, Rp, Planas-Serra, L, Pleguezuelo, De, Prando, C, Pujol, A, Reyes, Lf, Rivière, Jg, Rodriguez-Gallego, C, Rojas, J, Rovere-Querini, P, Schlüter, A, Shahrooei, M, Sobh, A, Soler-Palacin, P, Tandjaoui-Lambiotte, Y, Tipu, I, Tresoldi, C, Troya, J, van de Beek, D, Zatz, M, Zawadzki, P, Al-Muhsen, Sz, Alosaimi, Mf, Alsohime, Fm, Baris-Feldman, H, Butte, Mj, Constantinescu, Sn, Cooper, Ma, Dalgard, Cl, Fellay, J, Heath, Jr, Lau, Y, Lifton, Rp, Maniatis, T, Mogensen, Th, von Bernuth, H, Lermine, A, Vidaud, M, Boland, A, Deleuze, J, Nussbaum, R, Kahn-Kirby, A, Mentre, F, Tubiana, S, Gorochov, G, Tubach, F, Hausfater, P, Meyts, I, Zhang, S, Puel, A, Notarangelo, Ld, Boisson-Dupuis, S, Helen C, S, Boisson, B, Jouanguy, E, Casanova, J, Zhang, Q, Abel, L, Cobat, A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3667::ba3a452488014aee95b3aabc0ddbbf61
https://hdl.handle.net/2108/321965
https://hdl.handle.net/2108/321965
Autor:
Pacot L; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Ye M; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Nectoux J; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Laurendeau I; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Briand-Suleau A; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Coustier A; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Maillard T; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Barbance C; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Orhant L; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Vaucouleur N; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Blanché H; CRB du CEPH, Fondation Jean Dausset-CEPH, Paris, France., Parfait B; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Wolkenstein P; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris, Créteil, France; INSERM, Clinical Investigation Center 1430, Referral Center of Neurofibromatosis, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris, Faculté de Santé Paris Est Créteil, Créteil, France., Vidaud M; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Vidaud D; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France., Pasmant E; Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Assistance Publique-Hôpital Paris, Centre-Université Paris Cité, Hôpital Cochin, Paris, France. Electronic address: eric.pasmant@inserm.fr.
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Feb; Vol. 26 (2), pp. 150-157. Date of Electronic Publication: 2023 Nov 25.
Autor:
Pacot L; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Université Paris Cité, CARPEM, Paris, France., Sabbagh A; UMR 261 MERIT, Institut de Recherche pour le Développement, UFR de Pharmacie de Paris, Université Paris Cité, Paris, France., Sohier P; Service de Pathologie, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, Paris, France., Hadjadj D; Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Université Paris Cité, CARPEM, Paris, France., Ye M; Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Université Paris Cité, CARPEM, Paris, France., Boland-Auge A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Bacq-Daian D; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Laurendeau I; Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Université Paris Cité, CARPEM, Paris, France., Briand-Suleau A; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Université Paris Cité, CARPEM, Paris, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Margueron R; Institut Curie, INSERM U934/CNRS UMR3215, Paris Sciences et Lettres Research University, Sorbonne University, Paris, France., Vidaud M; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Université Paris Cité, CARPEM, Paris, France., Ferkal S; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM, Clinical Investigation Center 1430, Referral Center of Neurofibromatosis, Hôpital Henri Mondor, AP-HP, Faculté de Santé Paris Est Créteil, Créteil, France., Parfait B; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Université Paris Cité, CARPEM, Paris, France., Vidaud D; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Université Paris Cité, CARPEM, Paris, France., Pasmant E; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, DMU BioPhyGen, AP-HP, Centre-Université Paris Cité, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Université Paris Cité, CARPEM, Paris, France., Wolkenstein P; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM, Clinical Investigation Center 1430, Referral Center of Neurofibromatosis, Hôpital Henri Mondor, AP-HP, Faculté de Santé Paris Est Créteil, Créteil, France.
Publikováno v:
The British journal of dermatology [Br J Dermatol] 2024 Jan 23; Vol. 190 (2), pp. 226-243.
Autor:
Matuozzo D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Talouarn E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Marchal A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Manry J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Bolze A; Helix, San Mateo, CA, USA., Chaldebas M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Milisavljevic B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Asano T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Barzaghi F; Department of Paediatric Immunohematology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Abolhassani H; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, Iran., Tayoun AA; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Aiuti A; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCSS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Darazam IA; Infectious Diseases and Tropical Medicine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Infectious Diseases and Tropical Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Allende LM; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Alonso-Arias R; Immunology Department, Hospital Universitario Central de Asturias, Oviedo, Spain., Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Microbiology and Parasitology, Primary Immunodeficiencies Group, School of Medicine, University of Antioquia UdeA, 050010, Medellin, Colombia.; School of Microbiology, University of Antioquia UdeA, 050010, Medellin, Colombia., Aytekin G; Deparment of Internal Medicine, Division of Allergy and Immunology, Konya City Hospital, Konya, Turkey., Bergman P; Department of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Division of Clinical Immunology, Stockholm, Sweden., Bondesan S; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Bryceson YT; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Bustos IG; Universidad de La Sabana, Chía, Colombia., Cabrera-Marante O; Institute of Biomedical Research of IdiPAZ, University Hospital 'La Paz', Madrid, Spain., Carcel S; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Carrera P; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Casari G; Division of Genetics and Cell Biology, Genome-Phenome Relationship, San Raffaele Hospital, Milan, Italy.; School of Medicine, Vita-Salute San Raffaele University, Milan, Italy., Chaïbi K; Anesthesiology and Critical Care Medicine Department, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France.; Common and Rare Kidney Diseases, Sorbonne University, INSERM UMR-S 1155, Paris, France., Colobran R; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Genetics Department, Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain., Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil., Covill LE; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Zein LE; Biology Department, Lebanese University, Beirut, Lebanon., Flores C; Genomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Carlos III Health Institute, Madrid, Spain.; Research Unit, University Hospital of Ntra. Sra. de Candelaria, Santa Cruz de Tenerife, Spain.; Faculty of Health Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Gregersen PK; Feinstein Institute for Medical Research, Northwell Health USA, Manhasset, NY, USA., Gut M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Haerynck F; Department of Internal Diseases and Pediatrics, Primary Immune Deficiency Research Laboratory, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent, Belgium., Halwani R; Sharjah Institute for Medical Research, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates., Hancerli S; Department of Pediatrics (Infectious Diseases), Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hammarström L; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Hatipoğlu N; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Karbuz A; Department of Pediatric Infectious Disease, Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey., Keles S; Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey., Kyheng C; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Leon-Lopez R; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Franco JL; Primary Immunodeficiencies Group, School of Microbiology, University of Antioquia UdeA, Medellin, Colombia., Mansouri D; The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Martinez-Picado J; IrsiCaixa AIDS Research Institute and Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Department of Infectious Diseases and Immunity, University of Vic-Central University of Catalonia, Vic, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Consorcio Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, Madrid, Spain., Akcan OM; Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey., Migeotte I; Centre de Génétique Humaine de L'Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium., Morange PE; Laboratory of Haematology, La Timone Hospital, Marseille, France.; C2VN, INSERM, INRAE, Aix-Marseille University, Marseille, France., Morelle G; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Martin-Nalda A; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Novelli G; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.; IRCCS Neuromed, Pozzilli, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Ozcelik T; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Palabiyik F; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., de Diego RP; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, University Hospital 'La Paz', Madrid, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Pleguezuelo DE; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Prando C; Faculdades Pequeno Príncipe, Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Brazil., Pujol A; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Reyes LF; University of La Sabana, Chía, Colombia., Rivière JG; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Rodriguez-Gallego C; Department of Immunology, University Hospital of Gran Canaria Dr. Negrin, Canarian Health System, Las Palmas de Gran Canaria, Spain.; Department of Clinical Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Rojas J; Primary Immunodeficiencies Group, School of Microbiology, University of Antioquia UdeA, Medellin, Colombia., Rovere-Querini P; Vita-Salute San Raffaele University, Milan, Italy.; Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Sobh A; Department of Pediatrics, Mansoura University Children's Hospital, Mansoura University Faculty of Medicine, Mansoura, Egypt., Soler-Palacin P; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Tandjaoui-Lambiotte Y; Hypoxia and Lung, INSERM U1272, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France., Tipu I; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan., Tresoldi C; Division of Immunology, Transplantation and Infectious Diseases, IRCCS Ospedale San Raffaele, Milan, Italy., Troya J; Department of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain., van de Beek D; Department of Neurology, Amsterdam UMC, Amsterdam Neuroscience, Amsterdam, Netherlands., Zatz M; 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Publikováno v:
Genome medicine [Genome Med] 2024 Jan 06; Vol. 16 (1), pp. 6. Date of Electronic Publication: 2024 Jan 06.
Autor:
Tuppin, P., Samson, S., Fagot-Campagna, A., Lukacs, B., Alla, F., Allemand, H., Paccaud, F., Thalabard, J.-C., Vicaut, É., Vidaud, M., Millat, B.
Publikováno v:
In Progres en Urologie July 2014 24(9):572-580
Akademický článek
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Autor:
Pacot L; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France., Pelletier V; Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, Strasbourg Medical School, University of Strasbourg, Strasbourg, France., Chansavang A; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Briand-Suleau A; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France., Burin des Roziers C; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France., Coustier A; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France., Maillard T; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France., Vaucouleur N; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France., Orhant L; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France., Barbance C; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France., Lermine A; Plateforme SeqOIA, AP-HP, Paris, France., Hamzaoui N; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France., Hadjadj D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., Laurendeau I; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., El Khattabi L; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France.; Department of Cytogenetics, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, Paris, France., Nectoux J; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France., Vidaud M; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France., Parfait B; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France., Dollfus H; Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, Strasbourg Medical School, University of Strasbourg, Strasbourg, France.; Centre de Référence Pour les Affections Rares en Génétique Ophtalmologique, CARGO, Institut de Génétique Médicale d'Alsace, IGMA, Filière SENS-GENE, Bâtiment du Centre de Recherche en Biomédecine Strasbourg (CRBS), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Pasmant E; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France. eric.pasmant@aphp.fr.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France. eric.pasmant@aphp.fr.; Plateforme SeqOIA, AP-HP, Paris, France. eric.pasmant@aphp.fr., Vidaud D; Fédération de Génétique et Médecine Génomique, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, 27 rue du Faubourg-Saint-Jacques, 75014, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France.
Publikováno v:
Human genetics [Hum Genet] 2023 Jan; Vol. 142 (1), pp. 1-9. Date of Electronic Publication: 2022 Aug 09.
Autor:
Handschuh, K., Guibourdenche, J., Cocquebert, M., Tsatsaris, V., Vidaud, M., Evain-Brion, D., Fournier, T.
Publikováno v:
In Placenta 2009 30(12):1016-1022