المؤلفون: Marziali E; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCSS, Florence, Italy., Landini S; Medical Genetics Unit, Meyer Children's Hospital IRCSS, Florence, Italy., Fiorentini E; Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy., Rocca C; Department of Clinical and Experimental Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy., Tiberi L; Medical Genetics Unit, Meyer Children's Hospital IRCSS, Florence, Italy., Artuso R; Medical Genetics Unit, Meyer Children's Hospital IRCSS, Florence, Italy., Zaroili L; Medical Genetics Unit, Meyer Children's Hospital IRCSS, Florence, Italy., Dirupo E; Medical Genetics Unit, Meyer Children's Hospital IRCSS, Florence, Italy., Fortunato P; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCSS, Florence, Italy., Bargiacchi S; Medical Genetics Unit, Meyer Children's Hospital IRCSS, Florence, Italy., Caputo R; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCSS, Florence, Italy., Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCSS, Florence, Italy.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2024 Aug; Vol. 45 (4), pp. 390-394. Date of Electronic Publication: 2024 Apr 08.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, Humans ; Male ; Female ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Intellectual Disability/diagnosis ; Child ; Mutation ; Child, Preschool ; Exome Sequencing ; Blepharoptosis/genetics ; Blepharoptosis/diagnosis ; DNA-Binding Proteins/genetics ; Tomography, Optical Coherence ; Bromodomain Containing Proteins ; Adaptor Proteins, Signal Transducing

المؤلفون: 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.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul 31. Date of Electronic Publication: 2024 Jul 31.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

المؤلفون: Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Firenze, Italy. giacomo.bacci@meyer.it., Marziali E; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Firenze, Italy., Bargiacchi S; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Paques M; Clinical Investigation Center Vision 1423, INSERM-DGOS, Sorbonne Université, Quinze-Vingts Hospital, Paris, France.; Institut de la Vision, Paris, France., Virgili G; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.; IRCCS - Fondazione Bietti, Rome, Italy., Fortunato P; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Firenze, Italy., Durand M; Imagine Eyes, Orsay, France., Rocca C; Department of Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Florence, Italy., Pagliazzi A; Nephrology and Renal Transplantation Research Group, KU Leuven, Leuven, Belgium., Palazzo V; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Tiberi L; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Vergani D; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Landini S; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Peron A; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Biomedical Experimental and Clinical Sciences 'Mario Serio', University of Florence, Florence, Italy., Artuso R; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Pacini B; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Stabile M; Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa, Pisa, Italy., Sodi A; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Caputo R; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, 50139, Firenze, Italy.

المصدر: Scientific reports [Sci Rep] 2024 Jul 04; Vol. 14 (1), pp. 15454. Date of Electronic Publication: 2024 Jul 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Tomography, Optical Coherence*/methods , Fovea Centralis*/abnormalities , Fovea Centralis*/pathology , Fovea Centralis*/diagnostic imaging , Phenotype* , Multimodal Imaging*/methods , Visual Acuity*, Humans ; Male ; Child ; Female ; Adolescent ; Fluorescein Angiography/methods ; Albinism/genetics

المؤلفون: Dodd DO; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Mechaussier S; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Yeyati PL; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., McPhie F; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Anderson JR; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA., Khoo CJ; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China., Shoemark A; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK., Gupta DK; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA., Attard T; Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK., Zariwala MA; Department of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA., Legendre M; Molecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France., Bracht D; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany., Wallmeier J; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany., Gui M; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA., Fassad MR; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria 21561, Egypt., Parry DA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Tennant PA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Meynert A; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Wheway G; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK., Fares-Taie L; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Black HA; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; South East of Scotland Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK., Mitri-Frangieh R; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France.; Biomechanics and Respiratory Apparatus, IMRB, U955 INSERM - Université Paris Est Créteil, CNRS ERL 7000, Créteil 94000, France., Faucon C; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France., Kaplan J; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Patel M; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; MRC Prion Unit, Institute of Prion Diseases, University College London, London W1W 7FF, UK., McKie L; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Megaw R; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.; Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK., Gatsogiannis C; Center for Soft Nanoscience and Institute of Medical Physics and Biophysics, Münster 48149, Germany., Mohamed MA; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.; Biochemistry Division, Chemistry Department, Faculty of Science, Zagazig University, Ash Sharqiyah 44519, Egypt., Aitken S; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Gautier P; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Reinholt FR; Core Facility for Electron Microscopy, Department of Pathology, Oslo University Hospital-Rikshospitalet, Oslo 0372, Norway., Hirst RA; Centre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK., O'Callaghan C; Centre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK., Heimdal K; Department of Medical Genetics, Oslo University Hospital, Oslo 0407, Norway., Bottier M; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK., Escudier E; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France.; Department of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France., Crowley S; Paediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo 0407, Norway., Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA., Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029-6504, New York, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA., Kenia P; Department of Paediatric Respiratory Medicine, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK., Amiel J; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris 75015, France.; Laboratory of Embryology and Genetics of Human Malformations, INSERM UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France., Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Calogero C; Pediatric Pulmonary Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Palazzo V; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Tiberi L; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Blümlein U; Carl-Thiem-Klinikum Cottbus, Cottbus 03048, Germany., Rogers A; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK., Wambach JA; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA., Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA., Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA., Kenna M; Department of Otolaryngology, Boston Children's Hospital, Boston, MA 02115, USA., Rosenfeld M; Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Research Institute, Seattle, WA 98015, USA., Holm IA; Division of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115 USA., Quigley A; Department of Paediatric Radiology, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK., Hall EA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Murphy LC; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Cassidy DM; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK., von Kriegsheim A; Cancer Research UK Edinburgh Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Papon JF; ENT Department, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Saclay University, Le Kremlin-Bicêtre 94270, France., Pasquier L; Medical Genetics Department, CHU Pontchaillou, Rennes 35033, France., Murris MS; Department of Pulmonology, Transplantation, and Cystic Fibrosis Centre, Larrey Hospital, Toulouse 31400, France., Chalmers JD; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK., Hogg C; Respiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK., Macleod KA; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK., Urquhart DS; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh EH16 4TJ, UK., Unger S; Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.; Department of Child Life and Health, University of Edinburgh, Edinburgh EH16 4TJ, UK., Aitman TJ; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Amselem S; Molecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.; Sorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France., Leigh MW; Department of Pediatrics, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA., Knowles MR; Department of Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA., Omran H; Department of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany., Mitchison HM; Genetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK., Brown A; Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA., Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK., Welburn JPI; Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK., Ti SC; School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China., Horani A; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA., Rozet JM; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Perrault I; Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France., Mill P; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.

مؤلفون مشاركون: Scottish Genomes Partnership16, Genomics England Research Consortium45, Undiagnosed Diseases Network46

المصدر: Science (New York, N.Y.) [Science] 2024 Apr 26; Vol. 384 (6694), pp. eadf5489. Date of Electronic Publication: 2024 Apr 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

مواضيع طبية MeSH: Axoneme*/metabolism , Centrioles*/metabolism , Cilia*/metabolism , Ciliary Motility Disorders*/genetics , Ciliary Motility Disorders*/metabolism , Tubulin*/genetics , Tubulin*/metabolism, Animals ; Humans ; Mice ; Mutation ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Male ; Female ; Mice, Knockout

المؤلفون: Bacci GM; Pediatric Ophthalmology Unit, Children's Hospital A. Meyer, University of Florence, Florence, Italy. Electronic address: giacomo.bacci@meyer.it., Morales MU; Academic Ophthalmology, Division of Clinical Neuroscience, School of Medicine, University of Nottingham, Nottingham NG7 2UH, United Kingdom., Febbrini Del Magro E; Pediatric Ophthalmology Unit, Children's Hospital A. Meyer, University of Florence, Florence, Italy., Fortunato P; Pediatric Ophthalmology Unit, Children's Hospital A. Meyer, University of Florence, Florence, Italy., Marziali E; Pediatric Ophthalmology Unit, Children's Hospital A. Meyer, University of Florence, Florence, Italy., Virgili G; Department of Neurosciences, Psychology, Drug Research, and Child Health, Eye Clinic, University of Florence, Florence, Italy., Amoaku W; Academic Ophthalmology, Division of Clinical Neuroscience, School of Medicine, University of Nottingham, Nottingham NG7 2UH, United Kingdom., Caputo R; Pediatric Ophthalmology Unit, Children's Hospital A. Meyer, University of Florence, Florence, Italy.

المصدر: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie [Can J Ophthalmol] 2024 Feb; Vol. 59 (1), pp. e61-e66. Date of Electronic Publication: 2022 Nov 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 0045312 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1715-3360 (Electronic) Linking ISSN: 00084182 NLM ISO Abbreviation: Can J Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Visual Field Tests* , Nystagmus, Pathologic*, Humans ; Child ; Retrospective Studies ; Prospective Studies ; Retina ; Vision Disorders ; Tomography, Optical Coherence/methods

المؤلفون: Becherucci V; Cell Factory Meyer, Children's Hospital A. Meyer Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Florence, 50139 Florence, Italy., Bacci GM; Pediatric Ophthalmology Unit, Children's Hospital A. Meyer Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Florence, 50139 Florence, Italy., Marziali E; Pediatric Ophthalmology Unit, Children's Hospital A. Meyer Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Florence, 50139 Florence, Italy., Sodi A; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50139 Florence, Italy., Bambi F; Cell Factory Meyer, Children's Hospital A. Meyer Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Florence, 50139 Florence, Italy., Caputo R; Pediatric Ophthalmology Unit, Children's Hospital A. Meyer Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Florence, 50139 Florence, Italy.

المصدر: Biomedicines [Biomedicines] 2023 Sep 28; Vol. 11 (10). Date of Electronic Publication: 2023 Sep 28.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE

المؤلفون: Murro V; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.; Eye Clinic, Careggi Teaching Hospital, Florence, Italy., Banfi S; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, NA, Italy.; Medical Genetics, Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples, Italy., Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy. francesco.testa@unicampania.it., Iarossi G; Department of Ophthalmology, Bambino Gesù Children's Hospital, Rome, Italy., Falsini B; Ophthalmology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Sodi A; Eye Clinic, Careggi Teaching Hospital, Florence, Italy., Signorini S; Center of Child Neuro-Ophthalmology, IRCCS, Mondino Foundation, Pavia, Italy., Iolascon A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Federico II, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.; CEINGE-Biotecnologie Avanzate, Naples, Italy., Russo R; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.; CEINGE-Biotecnologie Avanzate, Naples, Italy., Mucciolo DP; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.; Ophthalmology Unit, San Jacopo Hospital, Pistoia, Italy., Caputo R; Pediatric Ophthalmology Unit, A. Meyer Children's Hospital IRCCS, Florence, Italy., Bacci GM; Pediatric Ophthalmology Unit, A. Meyer Children's Hospital IRCCS, Florence, Italy., Bargiacchi S; Medical Genetics Unit, Ospedale Pediatrico Meyer, Florence, Italy., Turco S; National Centre of Services and Research for the Prevention of Blindness and Rehabilitation of the Visually Impaired, International Agency for the Prevention of Blindness-IAPB Italy Onlus, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Fortini S; National Centre of Services and Research for the Prevention of Blindness and Rehabilitation of the Visually Impaired, International Agency for the Prevention of Blindness-IAPB Italy Onlus, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 31; Vol. 18 (1), pp. 223. Date of Electronic Publication: 2023 Jul 31.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Leber Congenital Amaurosis*/diagnosis , Leber Congenital Amaurosis*/genetics , Leber Congenital Amaurosis*/therapy , Retinal Dystrophies*/diagnosis , Retinal Dystrophies*/genetics , Retinal Dystrophies*/therapy , Retinitis Pigmentosa*/diagnosis , Retinitis Pigmentosa*/genetics , Retinitis Pigmentosa*/therapy, Adolescent ; Humans ; Child, Preschool ; Genetic Testing ; Genetic Therapy ; Mutation

المؤلفون: Marziali E; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Van Den Broeck F; Department of Ophthalmology and Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Bargiacchi S; Medical Genetics Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Fortunato P; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Caputo R; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Sodi A; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., De Zaeytijd J; Department of Ophthalmology and Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Murro V; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Mucciolo DP; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Giorgio D; Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Passerini I; Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy., Palazzo V; Medical Genetics Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., de Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Zeitz C; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Leroy BP; Department of Ophthalmology and Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.; Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, Inc, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Secci J; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy., Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital, University of Florence, Florence, Italy.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2023 Apr; Vol. 44 (2), pp. 152-162. Date of Electronic Publication: 2022 Dec 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Night Blindness*/diagnosis , Night Blindness*/genetics , Myopia*/diagnosis , Myopia*/genetics , Retinal Diseases*/genetics, Humans ; Optic Nerve ; Tomography, Optical Coherence ; Calcium Channels, L-Type/genetics

SCR Disease Name: Night blindness, congenital stationary

المؤلفون: Fortunato P; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Florence, Italy., Pagliazzi A; Medical Genetics Unit, Meyer Children's Hospital, Florence, Italy., Bargiacchi S; Medical Genetics Unit, Meyer Children's Hospital, Florence, Italy., Marziali E; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Florence, Italy., Sodi A; Department of Neurosciences, Psychology, Drug Research, and Child Health, Eye Clinic, University of Florence, AOU Careggi, Florence, Italy., Caputo R; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Florence, Italy., Passerini I; Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy., Pelo E; Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy., Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Florence, Italy.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2023 Feb; Vol. 44 (1), pp. 35-42. Date of Electronic Publication: 2022 Nov 15.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Retinoschisis*/diagnosis , Retinoschisis*/genetics, Humans ; Retrospective Studies ; Electroretinography ; Mutation ; Phenotype ; Genotype ; Eye Proteins/metabolism ; Tomography, Optical Coherence

المؤلفون: Pavone R; Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's Hospital, 50134 Florence, Italy., Fonte C; Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's Hospital, 50134 Florence, Italy., Sardi I; Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's Hospital, 50134 Florence, Italy., Caputo R; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Viale Pieraccini 24, 50134 Florence, Italy., Marziali E; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Viale Pieraccini 24, 50134 Florence, Italy., Mazzeo F; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Viale Pieraccini 24, 50134 Florence, Italy., Secci J; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Viale Pieraccini 24, 50134 Florence, Italy., Bergamini A; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Viale Pieraccini 24, 50134 Florence, Italy., De Masi S; Clinical Trial Center, Careggi Hospital, 50134 Florence, Italy., Leo MC; Clinical Research and Study Design Office, Meyer Children's Hospital, 50134 Florence, Italy., Censullo ML; Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's Hospital, 50134 Florence, Italy., Bacci GM; Pediatric Ophthalmology Unit, Meyer Children's Hospital, Viale Pieraccini 24, 50134 Florence, Italy.

المصدر: Children (Basel, Switzerland) [Children (Basel)] 2022 Aug 28; Vol. 9 (9). Date of Electronic Publication: 2022 Aug 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE