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'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

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Title: 'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.
Authors: Bouhatous YM; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France., Bredrup C; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Medicine, University of Bergen, Bergen, Norway., Maurer A; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France., Mirakovska L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France., Foster A; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Jost C; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France., Demoulin JB; De Duve Institute, Université Catholique de Louvain, Brussels, Belgium., Luu M; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231, équipe GAD, FHU TRANSLAD, Inserm 1432 Centre d'investigation clinique module Plurithématique (CIC-P), 21 000 Dijon, France., Vabres P; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de référence des maladies rares de la peau et des muqueuses d'origine génétique, 21000 Dijon, France., Kurtz JE; Departement of medico-surgical oncology and hematology, Strasbourg Cancer Institute ICANS, INSERMU4113, Strasbourg, France., Schaefer E; Hôpitaux Universitaires de Strasbourg, Service de Génétique Médicale, Strasbourg, France., Guimier A; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies Du Développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, Île-de-France, France., Cormier-Daire V; Department of Medical Genetics, Paris Descartes University, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital, Paris, France., Lim D; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Thompson S; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Olson L; Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA., Kwon HR; Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA., Aguirre-Rodriguez C; Internal Medicine Department, Donostia University Hospital Aranzazu Building, San Sebastián, PV, Spain., Hernandez-Dorronsoro U; Pediatrics Department, Donostia University Hospital, Donostia-San Sebastián, Spain., Martinez-Soroa I; Ophthalmology Department, Donostia University Hospital, Donostia-San Sebastián, Spain., Iznardo H; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Mascaró JM; Department of Dermatology, Hospital Clínic de Barcelona, Barcelona, Spain., Baselga E; Department of Dermatology, Hospital Sant Joan de Déu, Barcelona, Spain., Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Mussa A; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy., Gazzin A; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy., Carli D; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy., Svinvik I; Department of pediatrics, Oslo University Hospital, Rikshospitalet, Oslo, Norway., Mutlu-Albayrak H; Department of Pediatrics, Division of Pediatric Genetics, Ankara University School of medicine, Ankara, Ankara, Turkey., Bluefeather S; Paediatrics, Hervey Bay and Maryborough Hospital, Maryborough, Queensland, Australia., Zarate Y; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, Kentucky, USA., Takenouchi T; Department of Pediatric Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan., Naicker T; Inkosi Albert Luthuli Central Hospital, Durban, South Africa., Chateau A; Inkosi Albert Luthuli Central Hospital, Durban, South Africa., Gokhul A; Inkosi Albert Luthuli Central Hospital, Durban, South Africa., Dube-Pule A; Inkosi Albert Luthuli Central Hospital, Durban, South Africa., Haniffa M; Department of genetics, Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia., Ong Peitee W; Department of genetics, Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden., Carpentier M; CHU Dijon Bourgogne, Direction de la Recherche Clinique et de l'Innovation, Dijon, Bourgogne-Franche-Comté, France., Binquet C; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231, équipe GAD, FHU TRANSLAD, Inserm 1432 Centre d'investigation clinique module Plurithématique (CIC-P), 21 000 Dijon, France., Briffaut AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Inserm 1432 Centre d'investigation clinique module Epidemiologie Clinique (CIC-EC), 21 000 Dijon, France., Bal L; Centre constitutif syndromes de Marfan et Apparentés region PACA - Centre Aorte Timone, Assistance Publique - Hopitaux de Marseille, Marseille, Provence-Alpes-Côte d'Azur, France., Pond D; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, Minnesota, USA., Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Bardou M; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231, équipe GAD, FHU TRANSLAD, Inserm 1432 Centre d'investigation clinique module Plurithématique (CIC-P), 21 000 Dijon, France., Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France laurence.faivre@chu-dijon.fr.
Source: Journal of medical genetics [J Med Genet] 2025 Sep 19; Vol. 62 (10), pp. 656-663. Date of Electronic Publication: 2025 Sep 19.
Publication Type: Journal Article; Multicenter Study; Observational Study
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: 'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.
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  Data: <searchLink fieldCode="AU" term="%22Bouhatous+YM%22">Bouhatous YM</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Bredrup+C%22">Bredrup C</searchLink>; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Medicine, University of Bergen, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Maurer+A%22">Maurer A</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Mirakovska+L%22">Mirakovska L</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Foster+A%22">Foster A</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Kosaki+K%22">Kosaki K</searchLink>; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Jost+C%22">Jost C</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Demoulin+JB%22">Demoulin JB</searchLink>; De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Luu+M%22">Luu M</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231, équipe GAD, FHU TRANSLAD, Inserm 1432 Centre d'investigation clinique module Plurithématique (CIC-P), 21 000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Vabres+P%22">Vabres P</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de référence des maladies rares de la peau et des muqueuses d'origine génétique, 21000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Kurtz+JE%22">Kurtz JE</searchLink>; Departement of medico-surgical oncology and hematology, Strasbourg Cancer Institute ICANS, INSERMU4113, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Schaefer+E%22">Schaefer E</searchLink>; Hôpitaux Universitaires de Strasbourg, Service de Génétique Médicale, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Guimier+A%22">Guimier A</searchLink>; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies Du Développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, Île-de-France, France.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; Department of Medical Genetics, Paris Descartes University, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lim+D%22">Lim D</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Thompson+S%22">Thompson S</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Olson+L%22">Olson L</searchLink>; Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.<br /><searchLink fieldCode="AU" term="%22Kwon+HR%22">Kwon HR</searchLink>; Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.<br /><searchLink fieldCode="AU" term="%22Aguirre-Rodriguez+C%22">Aguirre-Rodriguez C</searchLink>; Internal Medicine Department, Donostia University Hospital Aranzazu Building, San Sebastián, PV, Spain.<br /><searchLink fieldCode="AU" term="%22Hernandez-Dorronsoro+U%22">Hernandez-Dorronsoro U</searchLink>; Pediatrics Department, Donostia University Hospital, Donostia-San Sebastián, Spain.<br /><searchLink fieldCode="AU" term="%22Martinez-Soroa+I%22">Martinez-Soroa I</searchLink>; Ophthalmology Department, Donostia University Hospital, Donostia-San Sebastián, Spain.<br /><searchLink fieldCode="AU" term="%22Iznardo+H%22">Iznardo H</searchLink>; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Mascaró+JM%22">Mascaró JM</searchLink>; Department of Dermatology, Hospital Clínic de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Baselga+E%22">Baselga E</searchLink>; Department of Dermatology, Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Kalantari+S%22">Kalantari S</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Mussa+A%22">Mussa A</searchLink>; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Gazzin+A%22">Gazzin A</searchLink>; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Carli+D%22">Carli D</searchLink>; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Svinvik+I%22">Svinvik I</searchLink>; Department of pediatrics, Oslo University Hospital, Rikshospitalet, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Mutlu-Albayrak+H%22">Mutlu-Albayrak H</searchLink>; Department of Pediatrics, Division of Pediatric Genetics, Ankara University School of medicine, Ankara, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Bluefeather+S%22">Bluefeather S</searchLink>; Paediatrics, Hervey Bay and Maryborough Hospital, Maryborough, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Zarate+Y%22">Zarate Y</searchLink>; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, Kentucky, USA.<br /><searchLink fieldCode="AU" term="%22Takenouchi+T%22">Takenouchi T</searchLink>; Department of Pediatric Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.<br /><searchLink fieldCode="AU" term="%22Naicker+T%22">Naicker T</searchLink>; Inkosi Albert Luthuli Central Hospital, Durban, South Africa.<br /><searchLink fieldCode="AU" term="%22Chateau+A%22">Chateau A</searchLink>; Inkosi Albert Luthuli Central Hospital, Durban, South Africa.<br /><searchLink fieldCode="AU" term="%22Gokhul+A%22">Gokhul A</searchLink>; Inkosi Albert Luthuli Central Hospital, Durban, South Africa.<br /><searchLink fieldCode="AU" term="%22Dube-Pule+A%22">Dube-Pule A</searchLink>; Inkosi Albert Luthuli Central Hospital, Durban, South Africa.<br /><searchLink fieldCode="AU" term="%22Haniffa+M%22">Haniffa M</searchLink>; Department of genetics, Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Ong+Peitee+W%22">Ong Peitee W</searchLink>; Department of genetics, Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Nordgren+A%22">Nordgren A</searchLink>; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Carpentier+M%22">Carpentier M</searchLink>; CHU Dijon Bourgogne, Direction de la Recherche Clinique et de l'Innovation, Dijon, Bourgogne-Franche-Comté, France.<br /><searchLink fieldCode="AU" term="%22Binquet+C%22">Binquet C</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231, équipe GAD, FHU TRANSLAD, Inserm 1432 Centre d'investigation clinique module Plurithématique (CIC-P), 21 000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Briffaut+AS%22">Briffaut AS</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Inserm 1432 Centre d'investigation clinique module Epidemiologie Clinique (CIC-EC), 21 000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Bal+L%22">Bal L</searchLink>; Centre constitutif syndromes de Marfan et Apparentés region PACA - Centre Aorte Timone, Assistance Publique - Hopitaux de Marseille, Marseille, Provence-Alpes-Côte d'Azur, France.<br /><searchLink fieldCode="AU" term="%22Pond+D%22">Pond D</searchLink>; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Rustad+CF%22">Rustad CF</searchLink>; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Bardou+M%22">Bardou M</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm CTM UMR1231, équipe GAD, FHU TRANSLAD, Inserm 1432 Centre d'investigation clinique module Plurithématique (CIC-P), 21 000 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, 21000 Dijon, France laurence.faivre@chu-dijon.fr.
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            NameFull: Pond D
      – PersonEntity:
          Name:
            NameFull: Rustad CF
      – PersonEntity:
          Name:
            NameFull: Bardou M
      – PersonEntity:
          Name:
            NameFull: Faivre L
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 19
              M: 09
              Text: 2025 Sep 19
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1468-6244
          Numbering:
            – Type: volume
              Value: 62
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: Journal of medical genetics
              Type: main
ResultId 1