A de novo pathogenic variant in MICAL-1 causes epilepsy with auditory features.

Autor: Bonanni P; Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea, Scientific Institute, Conegliano, Italy., Giorda R; Molecular Biology Laboratory, IRCCS E. Medea, Scientific Institute, Bosisio Parini, Italy., Michelucci R; Unit of Neurology, Bellaria Hospital, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Epilepsy Center, Bologna, Italy., Nobile C; Section of Padua, Neuroscience Institute, National Research Council of Italy, Padova, Italy.; Department of Biomedical Sciences, University of Padua, Padua, Italy., Dazzo E; Section of Padua, Neuroscience Institute, National Research Council of Italy, Padova, Italy.; Department of Biomedical Sciences, University of Padua, Padua, Italy.

Publikováno v: Epilepsia open [Epilepsia Open] 2024 Jun; Vol. 9 (3), pp. 1083-1087. Date of Electronic Publication: 2024 Apr 23.

Sex-dimorphic pathways in the associations between maternal trait anxiety, infant BDNF methylation, and negative emotionality.

Autor: Nazzari S; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Grumi S; Developmental Psychobiology Lab, IRCCS Mondino Foundation, Pavia, Italy., Mambretti F; Molecular Biology Lab, Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy., Villa M; Molecular Biology Lab, Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy., Giorda R; Molecular Biology Lab, Scientific Institute IRCCS E. Medea, Bosisio Parini, Italy., Bordoni M; Cellular Models and Neuroepigenetics Unit, IRCCS Mondino Foundation, Pavia, Italy., Pansarasa O; Cellular Models and Neuroepigenetics Unit, IRCCS Mondino Foundation, Pavia, Italy., Borgatti R; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Developmental Psychobiology Lab, IRCCS Mondino Foundation, Pavia, Italy., Provenzi L; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Developmental Psychobiology Lab, IRCCS Mondino Foundation, Pavia, Italy.

Publikováno v: Development and psychopathology [Dev Psychopathol] 2024 May; Vol. 36 (2), pp. 908-918. Date of Electronic Publication: 2023 Mar 01.

Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.

Autor: Decio A; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy. alice.decio@lanostrafamiglia.it., Giorda R; Molecular Biology Laboratory, IRCCS Eugenio Medea, Bosisio Parini (LC), Italy., Panzeri E; Molecular Biology Laboratory, IRCCS Eugenio Medea, Bosisio Parini (LC), Italy., Bassi MT; Molecular Biology Laboratory, IRCCS Eugenio Medea, Bosisio Parini (LC), Italy., D'Angelo MG; Unit of Rehabilitation of Rare Diseases of the Central and Peripheral Nervous System, Scientific Institute IRCCS E. Medea, Via Don L. Monza 20, 23842, Bosisio Parini (LC), Italy.

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Feb; Vol. 45 (2), pp. 819-823. Date of Electronic Publication: 2023 Oct 04.

Maternal and infant NR3C1 and SLC6A4 epigenetic signatures of the COVID-19 pandemic lockdown: when timing matters

Autor: Nazzari, S, Grumi, S, Mambretti, F, Villa, M, Giorda, R, Provenzi, L, Borgatti, R, Biasucci, G, Decembrino, L, Giacchero, R, Magnani, Ml, Nacinovich, R, Prefumo, F, Spinillo, A, Veggiotti, P

Stress exposure during pregnancy is critically linked with maternal mental health and child development. The effects might involve altered patterns of DNA methylation in specific stress-related genes (i.e., glucocorticoid receptor gene, NR3C1, and se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7563507870da9eb63fdf17c67b04244b
https://hdl.handle.net/10281/401479

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Autor: Solaki M; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Baumann B; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Reuter P; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Andreasson S; Department of Ophthalmology, University Hospital Lund, Lund, Sweden., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET, and INSERM-DGOS CIC1423, Paris, France., Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Balousha G; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine., Benedicenti F; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Birch D; Retina Foundation of the Southwest, Dallas, Texas, USA., Bitoun P; Genetique Medicale, CHU Paris Nord, Hopital Jean Verdier, Bondy Cedex, France., Blain D; National Eye Institute/NEI, Bethesda, Maryland, USA., Bocquet B; National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France., Branham K; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA., Català-Mora J; Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu, Barcelona, Esplugues de Llobregat, Spain., De Baere E; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Dollfus H; CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Falana M; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine., Giorda R; Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy., Golovleva I; Department of Medical Biosciences/Medical and Clinical Genetics, University of Umea, Umea, Sweden., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, UK., Heckenlively JR; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA., Jacobson SG; Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Jones K; Retina Foundation of the Southwest, Dallas, Texas, USA., Jägle H; Department of Ophthalmology, University of Regensburg, Regensburg, Germany., Janecke AR; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Kellner U; Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.; RetinaScience, Bonn, 53192, Germany., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Lorenz B; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.; Department of Ophthalmology, Universitaetsklinikum Bonn, Bonn, Germany., Martorell-Sampol L; Genetica Molecular-Edifici Docent, Hospital Sant Joan de Deu, Esplugues-Barcelona, Spain., Messias A; Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil., Meunier I; National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France.; Sensgene Care Network, France., Belga Ottoni Porto F; INRET Clínica e Centro de Pesquisa, IEP Santa Casa Belo Horizonte, Belo Horizonte, MG, Brazil., Papageorgiou E; Department of Ophthalmology, University Hospital of Larissa, Mezourlo, Larissa, Greece., Plomp AS; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., de Ravel TJL; Centre for Medical Genetics, University Hospital Brussels, Brussels, Belgium., Reiff CM; Augenarztpraxis am Stadttheater, Freiburg, Germany., Renner AB; Augenarztpraxis Regensburg, Regensburg, Germany., Rosenberg T; Department of Ophthalmology, National Eye Clinic, Glostrup Hospital, Glostrup, Denmark., Rudolph G; University Eye Hospital, Ludwig Maximilians University, Munich, Germany., Salati R; Scientific Institute, IRCCS Eugenio Medea, Pediatric Ophthalmology Unit, Bosisio Parini, Lecco, Italy., Sener EC; Strabismus and Pediatric Ophthalmology, Private Practice, Ankara, Turkey., Sieving PA; Center for Ocular Regenerative Therapy, School of Medicine, University of California Davis, Sacramento, USA., Stanzial F; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Traboulsi EI; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA., Tsang SH; Department of Ophthalmology, Pathology and Cell Biology, College of Physicians and Surgeons, Columbia Stem Cell Initiative, Columbia University, New York City, New York, USA., Varsanyi B; Department of Ophthalmology, Medical School, University of Pécs and Ganglion Medical Center, Pécs, Pécs, Hungary., Weleber RG; Oregon Health & Science University, Ophthalmic Genetics Service of the Casey Eye Institute, 515 SW Campus Drive, 97239, Portland, Oregon, USA., Zobor D; Centre for Ophthalmology, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Department of Ophthalmology, Semmelweis University Budapest, Budapest, Hungary., Stingl K; Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany., Wissinger B; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.

Publikováno v: Human mutation [Hum Mutat] 2022 Jul; Vol. 43 (7), pp. 832-858. Date of Electronic Publication: 2022 Apr 14.