Autor: "Maltese PE" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
Autorzy:: Cannarella R; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Gusmano C; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Condorelli RA; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Bernini A; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.
Kaftalli J; Diagnostics Unit, MAGI EUREGIO, 39100 Bolzano, Italy.
Maltese PE; Diagnostics Unit, MAGI'S LAB, 38068 Rovereto, Italy.
Paolacci S; Diagnostics Unit, MAGI'S LAB, 38068 Rovereto, Italy.
Dautaj A; Diagnostics Unit, MAGI'S LAB, 38068 Rovereto, Italy.
Marceddu G; Diagnostics Unit, MAGI EUREGIO, 39100 Bolzano, Italy.
Bertelli M; Diagnostics Unit, MAGI EUREGIO, 39100 Bolzano, Italy.; Diagnostics Unit, MAGI'S LAB, 38068 Rovereto, Italy.
La Vignera S; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Calogero AE; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Apr 18; Vol. 24 (8). Date of Electronic Publication: 2023 Apr 18.
Typ publikacji:: Case Reports
MeSH Terms:: Hypogonadism*/genetics
Hypogonadism*/diagnosis
Kallmann Syndrome*/genetics
Humans ; Phenotype ; Heterozygote ; Penetrance ; Mutation

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Skocz do pozycji: 2.

Tytuł:: Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.
Autorzy:: Placidi G; Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.; Ophthalmology Unit, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy.
Maltese PE; MAGI'S LAB, 38068 Rovereto, Italy.
Savastano MC; Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.; Ophthalmology Unit, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy.
D'Agostino E; Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.
Cestrone V; Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.
Bertelli M; MAGI'S LAB, 38068 Rovereto, Italy.; MAGI EUREGIO, 39100 Bolzano, Italy.; MAGISNAT, Atlanta Tech Park, 107 Technology Parkway, Peachtree Corners, GA 30092, USA.
Chiurazzi P; Medical Genetics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.; Genomic Medicine, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy.
Maceroni M; Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.; Ophthalmology Unit, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy.
Minnella AM; Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.; Ophthalmology Unit, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy.
Ziccardi L; IRCCS-Fondazione Bietti, 00198 Rome, Italy.
Parisi V; IRCCS-Fondazione Bietti, 00198 Rome, Italy.
Rizzo S; Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.; Ophthalmology Unit, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy.; Consiglio Nazionale delle Ricerche, Istituto di Neuroscienze, 56127 Pisa, Italy.
Falsini B; Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.; Ophthalmology Unit, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy.; Pokaż więcej
Źródło:: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2023 Feb 23; Vol. 13 (5). Date of Electronic Publication: 2023 Feb 23.
Typ publikacji:: Journal Article

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Skocz do pozycji: 3.

Tytuł:: Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.
Autorzy:: Bonetti G; MAGI'S LAB, 38068 Rovereto, Italy.; Department of Pharmaceutical Sciences, University of Perugia, 06123 Perugia, Italy.
Dhuli K; MAGI'S LAB, 38068 Rovereto, Italy.
Ceccarini MR; Department of Pharmaceutical Sciences, University of Perugia, 06123 Perugia, Italy.
Kaftalli J; MAGI EUREGIO, 39100 Bolzano, Italy.
Samaja M; MAGI'S LAB, 38068 Rovereto, Italy.; MAGI EUREGIO, 39100 Bolzano, Italy.
Precone V; MAGI EUREGIO, 39100 Bolzano, Italy.
Cecchin S; MAGI'S LAB, 38068 Rovereto, Italy.
Maltese PE; MAGI'S LAB, 38068 Rovereto, Italy.
Guerri G; MAGI'S LAB, 38068 Rovereto, Italy.
Marceddu G; MAGI EUREGIO, 39100 Bolzano, Italy.
Beccari T; Department of Pharmaceutical Sciences, University of Perugia, 06123 Perugia, Italy.
Aquilanti B; UOSD Medicina Bariatrica, Fondazione Policlinico Agostino Gemelli IRCCS, 00168 Rome, Italy.
Velluti V; UOSD Medicina Bariatrica, Fondazione Policlinico Agostino Gemelli IRCCS, 00168 Rome, Italy.
Matera G; UOSD Medicina Bariatrica, Fondazione Policlinico Agostino Gemelli IRCCS, 00168 Rome, Italy.
Perrone M; Department of Cardiology, University of Rome Tor Vergata, 00133 Rome, Italy.
Iaconelli A; UOSD Medicina Bariatrica, Fondazione Policlinico Agostino Gemelli IRCCS, 00168 Rome, Italy.
Colombo F; Department of Food, Environmental and Nutritional Sciences, Università degli Studi di Milano, 20122 Milan, Italy.
Greco F; Responsabile Unità di Chirurgia Bariatrica e Metabolica, Istituto Ospedaliero Fondazione Poliambulanza, 25124 Brescia, Italy.
Raffaelli M; UOC Chirurgia Endocrina e Metabolica, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Ergoren MC; Department of Medical Genetics, Faculty of Medicine, Near East University, 99138 Nicosia, Cyprus.
Bertelli M; MAGI'S LAB, 38068 Rovereto, Italy.; MAGI EUREGIO, 39100 Bolzano, Italy.; MAGISNAT, Peachtree Corners, GA 30092, USA.; Pokaż więcej
Źródło:: Journal of clinical medicine [J Clin Med] 2022 Dec 19; Vol. 11 (24). Date of Electronic Publication: 2022 Dec 19.
Typ publikacji:: Journal Article

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Skocz do pozycji: 4.

Tytuł:: Resistance to Thyroid Hormones: A Case-Series Study.
Autorzy:: Cannarella R; Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Musmeci M; Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Garofalo V; Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Timpanaro TA; Pediatric Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Leone G; Pediatric Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Caruso M; Pediatric Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Maltese PE; MAGI Euregio, 39100 Bolzano, Italy.
Condorelli RA; Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
La Vignera S; Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Calogero AE; Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Sep 24; Vol. 23 (19). Date of Electronic Publication: 2022 Sep 24.
Typ publikacji:: Case Reports
MeSH Terms:: Thyroid Hormone Receptors beta*/genetics
Thyroid Hormone Resistance Syndrome*/diagnosis
Thyroid Hormone Resistance Syndrome*/genetics
Adult ; Calcium ; Female ; Humans ; Infant, Newborn ; Male ; Mutation ; Parathyroid Hormone/genetics ; Pregnancy ; Thyroid Hormones ; Thyrotropin/genetics

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Skocz do pozycji: 5.

Tytuł:: Low Efficacy of Genetic Tests for the Diagnosis of Primary Lymphedema Prompts Novel Insights into the Underlying Molecular Pathways.
Autorzy:: Bonetti G; MAGI's LAB, 38068 Rovereto, Italy.
Paolacci S; MAGI's LAB, 38068 Rovereto, Italy.
Samaja M; MAGI Group, 25010 San Felice del Benaco, Italy.
Maltese PE; MAGI's LAB, 38068 Rovereto, Italy.
Michelini S; Vascular Diagnostics and Rehabilitation Service, Marino Hospital, ASL Roma 6, 00047 Marino, Italy.
Michelini S; Unit of Physical Medicine, 'Sapienza' University of Rome, 00185 Rome, Italy.
Michelini S; Neurosurgery, University of Tor Vergata, 00133 Rome, Italy.
Ricci M; Division of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, 60126 Ancona, Italy.
Cestari M; Study Centre Pianeta Linfedema, 05100 Terni, Italy.; Lymphology Sector of the Rehabilitation Service, USLUmbria2, 05100 Terni, Italy.
Dautaj A; MAGI's LAB, 38068 Rovereto, Italy.
Medori MC; MAGI's LAB, 38068 Rovereto, Italy.
Bertelli M; MAGI's LAB, 38068 Rovereto, Italy.; MAGI Group, 25010 San Felice del Benaco, Italy.; MAGI Euregio, 39100 Bolzano, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Jul 03; Vol. 23 (13). Date of Electronic Publication: 2022 Jul 03.
Typ publikacji:: Journal Article
MeSH Terms:: Lymphedema*/diagnosis
Lymphedema*/genetics
Phosphatidylinositol 3-Kinases*/genetics
Genetic Testing ; Humans ; Lymphatic System/metabolism ; Mutation

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Skocz do pozycji: 6.

Tytuł:: Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Autorzy:: Falsini B; Ophthalmology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS/Universita' Cattolica del S. Cuore, Rome, Italy.
Placidi G; Ophthalmology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS/Universita' Cattolica del S. Cuore, Rome, Italy.
De Siena E; Ophthalmology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS/Universita' Cattolica del S. Cuore, Rome, Italy.
Chiurazzi P; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS & Istituto di Medicina Genomica, Universita' Cattolica del S. Cuore, Rome, Italy.
Minnella AM; Ophthalmology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS/Universita' Cattolica del S. Cuore, Rome, Italy.
Savastano MC; Ophthalmology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS/Universita' Cattolica del S. Cuore, Rome, Italy.
Ziccardi L; IRCCS Fondazione Bietti, Rome, Italy.
Parisi V; IRCCS Fondazione Bietti, Rome, Italy.
Iarossi G; Ophthalmology Unit, Bambino Gesu' Children's Hospital, IRCSS, Rome, Italy.
Percio M; MAGI'S Lab s.r.l., Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.
Piteková B; Department of Pediatrics, National Institute of Children's Diseases, Faculty of Medicine, Comenius University, Bratislava, Slovak Republic.
Marceddu G; MAGI Euregio s.c.s., Bolzano, Italy.
Maltese PE; MAGI'S Lab s.r.l., Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy. paolo.maltese@assomagi.org.
Bertelli M; MAGI'S Lab s.r.l., Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.; MAGI Euregio s.c.s., Bolzano, Italy.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2022 Mar 08; Vol. 12 (1), pp. 3774. Date of Electronic Publication: 2022 Mar 08.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cone-Rod Dystrophies*/diagnosis
Cone-Rod Dystrophies*/genetics
Retinitis Pigmentosa*/genetics
ATP-Binding Cassette Transporters/genetics ; Bestrophins/genetics ; Electroretinography ; Humans ; Mutation ; Pedigree ; Phenotype ; Tomography, Optical Coherence

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Skocz do pozycji: 7.

Tytuł:: A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
Autorzy:: Biasi A; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.
Marino V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.
Dal Cortivo G; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.
Maltese PE; MAGI'S Lab s.r.l., 38068 Rovereto, Italy.
Modarelli AM; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milano, Italy.
Bertelli M; MAGI'S Lab s.r.l., 38068 Rovereto, Italy.; MAGI Euregio, 39100 Bolzano, Italy.
Colombo L; Department of Ophthalmology, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milano, Italy.
Dell'Orco D; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Oct 06; Vol. 22 (19). Date of Electronic Publication: 2021 Oct 06.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Mutation*
Cone Dystrophy/*pathology
Cyclic GMP/*metabolism
Guanylate Cyclase/*metabolism
Guanylate Cyclase-Activating Proteins/*genetics
Retina/*enzymology
Retinal Rod Photoreceptor Cells/*metabolism
Adolescent ; Calcium/metabolism ; Child ; Cone Dystrophy/genetics ; Cone Dystrophy/metabolism ; Female ; Humans ; Light Signal Transduction ; Male ; Middle Aged ; Pedigree ; Signal Transduction

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Skocz do pozycji: 8.

Tytuł:: Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes.
Autorzy:: Iarossi G; Department of Ophthalmology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.
Coppè AM; Department of Ophthalmology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.
Passarelli C; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Maltese PE; MAGI'S Lab s.r.l., 38068 Rovereto, Italy.
Sinibaldi L; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Rare Disease and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Cappelli A; Department of Ophthalmology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.
Cetola S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Buzzonetti L; Department of Ophthalmology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Aug 10; Vol. 22 (16). Date of Electronic Publication: 2021 Aug 10.
Typ publikacji:: Case Reports
MeSH Terms:: Color Vision Defects/*genetics
Eye Proteins/*genetics
Fovea Centralis/*abnormalities
Membrane Glycoproteins/*genetics
Rod Opsins/*genetics
Adult ; Color Vision Defects/pathology ; Humans ; Male ; Mutation ; Pedigree
SCR Disease Name:: Blue cone monochromatism

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Skocz do pozycji: 9.

Tytuł:: Impaired Ca Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Autorzy:: Marino V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37129 Verona, Italy.
Dal Cortivo G; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37129 Verona, Italy.
Maltese PE; MAGI'S Lab S.R.L., 38068 Rovereto, Italy.
Placidi G; Fondazione Policlinico Universitario 'A. Gemelli', IRCCS, 00168 Rome, Italy.; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
De Siena E; Fondazione Policlinico Universitario 'A. Gemelli', IRCCS, 00168 Rome, Italy.; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Falsini B; Fondazione Policlinico Universitario 'A. Gemelli', IRCCS, 00168 Rome, Italy.; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Bertelli M; MAGI'S Lab S.R.L., 38068 Rovereto, Italy.; MAGI Euregio, 39100 Bolzano, Italy.
Dell'Orco D; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37129 Verona, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2021 Apr 14; Vol. 22 (8). Date of Electronic Publication: 2021 Apr 14.
Typ publikacji:: Journal Article
MeSH Terms:: Synaptic Transmission*
Calcium/*metabolism
Cone Dystrophy/*genetics
Cone Dystrophy/*physiopathology
Guanylate Cyclase-Activating Proteins/*genetics
Mutation/*genetics
Retinal Bipolar Cells/*pathology
Retinal Rod Photoreceptor Cells/*pathology
Atrophy ; Cations ; Cone Dystrophy/diagnostic imaging ; Disease Progression ; Electroretinography ; Female ; Fundus Oculi ; Guanylate Cyclase/metabolism ; Guanylate Cyclase-Activating Proteins/chemistry ; Heterozygote ; Humans ; Hydrodynamics ; Hydrophobic and Hydrophilic Interactions ; Middle Aged ; Molecular Dynamics Simulation ; Phenotype ; Protein Aggregates ; Protein Stability ; Protein Structure, Quaternary ; Retinal Bipolar Cells/metabolism ; Retinal Pigment Epithelium/pathology ; Retinal Rod Photoreceptor Cells/metabolism ; Tomography, Optical Coherence

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Skocz do pozycji: 10.

Tytuł:: USH2A -Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.
Autorzy:: Falsini B; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Placidi G; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
De Siena E; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Savastano MC; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Minnella AM; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Maceroni M; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Midena G; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Ziccardi L; Fondazione GB Bietti per l'Oftalmologia, IRCCS, 00184 Rome, Italy.
Parisi V; Fondazione GB Bietti per l'Oftalmologia, IRCCS, 00184 Rome, Italy.
Bertelli M; MAGI'S LAB, 38068 Rovereto, Italy.; MAGI EUREGIO, 39100 Bolzano, Italy.
Maltese PE; MAGI'S LAB, 38068 Rovereto, Italy.; MAGI EUREGIO, 39100 Bolzano, Italy.
Chiurazzi P; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Rizzo S; Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Pokaż więcej
Źródło:: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2021 Feb 01; Vol. 11 (2). Date of Electronic Publication: 2021 Feb 01.
Typ publikacji:: Journal Article

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Skocz do pozycji: 11.

Tytuł:: Expanding the Clinical and Genetic Spectrum of RAB28 -Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
Autorzy:: Iarossi G; Department of Ophthalmology, Bambino Gesù Children's Hospital, 00165 Rome, Italy.
Marino V; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.
Maltese PE; MAGI'S Lab s.r.l., 38068 Rovereto (TN), Italy.
Colombo L; Department of Ophthalmology, San Paolo Hospital, University of Milan, 20142 Milano, Italy.
D'Esposito F; Imperial College Ophthalmic Research Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London NW1 5QH, UK.; MAGI Euregio, 39100 Bolzano, Italy.; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples 'Federico II', 80138 Naples, Italy.
Manara E; MAGI Euregio, 39100 Bolzano, Italy.
Dhuli K; MAGI Euregio, 39100 Bolzano, Italy.
Modarelli AM; Department of Ophthalmology, San Paolo Hospital, University of Milan, 20142 Milano, Italy.
Cennamo G; Eye Clinic, Department of Public Health, University of Naples 'Federico II', 80138 Naples, Italy.
Magli A; Department of Pediatric Ophthalmology, University of Salerno, 84084 Fisciano (SA), Italy.
Dell'Orco D; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.
Bertelli M; MAGI'S Lab s.r.l., 38068 Rovereto (TN), Italy.; MAGI Euregio, 39100 Bolzano, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2020 Dec 31; Vol. 22 (1). Date of Electronic Publication: 2020 Dec 31.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Mutation*
Cone-Rod Dystrophies/*genetics
Cone-Rod Dystrophies/*pathology
Guanosine Triphosphate/*metabolism
rab GTP-Binding Proteins/*genetics
Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Visual Acuity ; Young Adult

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Skocz do pozycji: 12.

Tytuł:: A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Autorzy:: Gatticchi L; Department of Experimental Medicine, Laboratory of Biochemistry, University of Perugia, Perugia, Italy.
Miertus J; Génius n. o, Trnava, Slovakia.; MAGI's Lab, Genetic Testing Laboratory, Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.
Maltese PE; MAGI's Lab, Genetic Testing Laboratory, Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy. paolo.maltese@assomagi.org.
Bressan S; MAGI's Lab, Genetic Testing Laboratory, Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.
De Antoni L; MAGI Euregio, Via Maso della Pieve, 60/A, 39100, Bolzano, Italy.
Podracká L; Department of Pediatrics, National Institute for Sick Children, Commenius University, Bratislava, Slovakia.
Piteková L; Department of Pediatrics, National Institute for Sick Children, Commenius University, Bratislava, Slovakia.
Rísová V; Institute of Histology and Embryology, Faculty of Medicine, Commenius University, Bratislava, Slovakia.
Mällo M; Asper Biogene LLC, Tartu, Estonia.
Jaakson K; Asper Biogene LLC, Tartu, Estonia.
Joost K; Asper Biogene LLC, Tartu, Estonia.
Colombo L; Department of Ophthalmology, San Paolo Hospital, University of Milan, Milan, Italy.
Bertelli M; MAGI's Lab, Genetic Testing Laboratory, Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.; MAGI Euregio, Via Maso della Pieve, 60/A, 39100, Bolzano, Italy.; Pokaż więcej
Źródło:: BMC medical genetics [BMC Med Genet] 2020 Sep 01; Vol. 21 (1), pp. 173. Date of Electronic Publication: 2020 Sep 01.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Early Diagnosis*
Mutation*
Alstrom Syndrome/*genetics
Cell Cycle Proteins/*genetics
High-Throughput Nucleotide Sequencing/*methods
Alstrom Syndrome/diagnosis ; Codon, Nonsense ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Infant

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Skocz do pozycji: 13.

Tytuł:: Aldo-Keto Reductase 1C1 ( AKR1C1 ) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema.
Autorzy:: Michelini S; Dipartimento di Riabilitazione, Ospedale San Giovanni Battista, A.C.I.S.M.O.M., 00148 Rome, Italy.
Chiurazzi P; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Fondazione Policlinico Universitario 'A.Gemelli' IRCCS, UOC Genetica Medica, 00168 Rome, Italy.
Marino V; Dipartimento di Neuroscienze, Biomedicina e Movimento, Sezione di Chimica Biologica, Università di Verona, 37134 Verona, Italy.
Dell'Orco D; Dipartimento di Neuroscienze, Biomedicina e Movimento, Sezione di Chimica Biologica, Università di Verona, 37134 Verona, Italy.
Manara E; MAGI Euregio, 39100 Bolzano, Italy.
Baglivo M; MAGI Euregio, 39100 Bolzano, Italy.
Fiorentino A; Dipartimento di Riabilitazione, Ospedale San Giovanni Battista, A.C.I.S.M.O.M., 00148 Rome, Italy.
Maltese PE; MAGI's LAB, 38068 Rovereto, Italy.
Pinelli M; Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, 80131 Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.
Herbst KL; Departments of Medicine, Pharmacy, Medical Imaging, Division of Endocrinology, University of Arizona, Tucson, AZ 85721, USA.
Dautaj A; EBTNA-Lab, 38068 Rovereto, Italy.
Bertelli M; MAGI Euregio, 39100 Bolzano, Italy.; EBTNA-Lab, 38068 Rovereto, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2020 Aug 29; Vol. 21 (17). Date of Electronic Publication: 2020 Aug 29.
Typ publikacji:: Journal Article
MeSH Terms:: Mutation, Missense*
20-Hydroxysteroid Dehydrogenases/*genetics
Lipedema/*genetics
Exome Sequencing/*methods
20-Hydroxysteroid Dehydrogenases/chemistry ; 20-Hydroxysteroid Dehydrogenases/metabolism ; 20-alpha-Dihydroprogesterone/metabolism ; Adult ; Aged ; Female ; Humans ; Lipedema/metabolism ; Loss of Function Mutation ; Middle Aged ; Models, Molecular ; Molecular Dynamics Simulation ; Pedigree ; Progesterone/metabolism ; Protein Conformation

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Skocz do pozycji: 14.

Tytuł:: FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation.
Autorzy:: Tavian D; Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, 20145 Milan, Italy.; Psychology Department, Università Cattolica del Sacro Cuore, 20123 Milan, Italy.
Missaglia S; Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, 20145 Milan, Italy.; Psychology Department, Università Cattolica del Sacro Cuore, 20123 Milan, Italy.
Michelini S; Department of Vascular Rehabilitation, San Giovanni Battista Hospital, 00148 Rome, Italy.
Maltese PE; Laboratory of Molecular Genetics, International Association of Medical Genetics, MAGI's Lab s.r.l., 38068 Rovereto, Italy.
Manara E; MAGI EUREGIO, 39100 Bolzano, Italy.
Mordente A; Dipartimento di Scienze di Laboratorio ed Infettivologiche, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.; Facoltà di Scienze della Formazione, Università Cattolica del Sacro Cuore, 20123 Milan, Italy.
Bertelli M; Laboratory of Molecular Genetics, International Association of Medical Genetics, MAGI's Lab s.r.l., 38068 Rovereto, Italy.; MAGI EUREGIO, 39100 Bolzano, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2020 Jul 20; Vol. 21 (14). Date of Electronic Publication: 2020 Jul 20.
Typ publikacji:: Journal Article
MeSH Terms:: Eyelashes/*abnormalities
Forkhead Transcription Factors/*genetics
Lymphedema/*genetics
Adult ; Cell Proliferation ; Eyelashes/pathology ; Female ; Forkhead Transcription Factors/chemistry ; HeLa Cells ; Humans ; Lymphedema/pathology ; Male ; Middle Aged ; Mutation, Missense ; Point Mutation ; Protein Aggregates ; Protein Aggregation, Pathological/genetics ; Protein Aggregation, Pathological/pathology ; Transcriptional Activation
SCR Disease Name:: Lymphedema distichiasis syndrome

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Tytuł:: Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Autorzy:: Frecer V; Department of Physical Chemistry of Drugs, Faculty of Pharmacy, Comenius University in Bratislava, Bratislava, Slovakia.
Iarossi G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
Salvetti AP; Department of Biomedical and Clinical Sciences 'Luigi Sacco', Sacco Hospital, University of Milan, Milan, Italy.
Maltese PE; MAGI'S Lab S.R.L., Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy. paolo.maltese@assomagi.org.
Delledonne G; Department of Biomedical and Clinical Sciences 'Luigi Sacco', Sacco Hospital, University of Milan, Milan, Italy.
Oldani M; Department of Biomedical and Clinical Sciences 'Luigi Sacco', Sacco Hospital, University of Milan, Milan, Italy.
Staurenghi G; Department of Biomedical and Clinical Sciences 'Luigi Sacco', Sacco Hospital, University of Milan, Milan, Italy.
Falsini B; Institute of Ophthalmology, Visual Electrophysiology Service, Fondazione Policlinico Gemelli/UniversitàCattolica del S. Cuore, Rome, Italy.
Minnella AM; Institute of Ophthalmology, Visual Electrophysiology Service, Fondazione Policlinico Gemelli/UniversitàCattolica del S. Cuore, Rome, Italy.
Ziccardi L; Neurophthalmology and Neurophysiology Unit, GB Bietti Foundation-IRCCS, Rome, Italy.
Magli A; Department of Ophthalmology, Orthoptic and Pediatric Ophthalmology, University of Salerno, Salerno, Italy.
Colombo L; Department of Ophthalmology, San Paolo Hospital, University of Milan, Milan, Italy.
D'Esposito F; Imperial College Ophthalmic Research Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London, UK.; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.; MAGI Euregio, Bolzano, Italy.
Miertus J; Genius n.o., Trnava, Slovakia.
Viola F; Department of Ophthalmology, Fondazione IRCCS Cà Granda, Clinica Regina Elena, Milan, Italy.
Attanasio M; IRCCS-Ospedale Sacro Cuore Don Calabria, Negrar, VR, Italy.
Maggio E; IRCCS-Ospedale Sacro Cuore Don Calabria, Negrar, VR, Italy.
Bertelli M; MAGI'S Lab S.R.L., Via Delle Maioliche 57/D, 38068, Rovereto, TN, Italy.; MAGI Euregio, Bolzano, Italy.; Pokaż więcej
Źródło:: Journal of translational medicine [J Transl Med] 2019 Oct 01; Vol. 17 (1), pp. 330. Date of Electronic Publication: 2019 Oct 01.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Computational Biology*
Bestrophins/*chemistry
Bestrophins/*genetics
Mutation/*genetics
Vitelliform Macular Dystrophy/*genetics
Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Italy ; Male ; Middle Aged ; Models, Molecular ; Pedigree ; Protein Subunits/chemistry ; Protein Subunits/genetics ; Regression Analysis ; Young Adult

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Tytuł:: Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Autorzy:: Manara E; Magi Euregio, Bolzano, Italy. .
Paolacci S; Magi Euregio, Bolzano, Italy.
D'Esposito F; Magi Euregio, Bolzano, Italy.; Imperial College Ophthalmic Research Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London, UK.; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, Federico II University, Naples, Italy.
Abeshi A; Magi Euregio, Bolzano, Italy.
Ziccardi L; IRCCS - Fondazione Bietti, Rome, Italy.
Falsini B; Institute of Ophthalmology, Università Cattolica del Sacro Cuore, Rome, Italy.; Fondazione Policlinico Universitario 'A. Gemelli', IRCCS, Rome, Italy.
Colombo L; Department of Ophthalmology, San Paolo Hospital, University of Milan, Milan, Italy.
Iarossi G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
Pilotta A; Special Unit of Auxoendocrinology, Diabetology and Pediatric Genetics, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
Boccone L; Microcitemic Regional Hospital, Brotzu Hospital, Cagliari, Italy.
Guerri G; Magi Euregio, Bolzano, Italy.
Monica M; Microcitemic Regional Hospital, Brotzu Hospital, Cagliari, Italy.
Marta B; Microcitemic Regional Hospital, Brotzu Hospital, Cagliari, Italy.
Maltese PE; MAGI'S Lab, Rovereto, Italy.
Buzzonetti L; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
Rossetti L; Department of Ophthalmology, San Paolo Hospital, University of Milan, Milan, Italy.
Bertelli M; Magi Euregio, Bolzano, Italy.; Pokaż więcej
Źródło:: Italian journal of pediatrics [Ital J Pediatr] 2019 Jun 13; Vol. 45 (1), pp. 72. Date of Electronic Publication: 2019 Jun 13.
Typ publikacji:: Journal Article
MeSH Terms:: Bardet-Biedl Syndrome/*genetics
Mutation/*genetics
Adolescent ; Adult ; Child ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Genetic Testing ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Italy ; Male ; Middle Aged ; Phenotype

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Tytuł:: Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report.
Autorzy:: Minnella AM; Institute of Ophthalmology, Università Cattolica del Sacro Cuore - Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy. .
Pagliei V; Institute of Ophthalmology, Università Cattolica del Sacro Cuore - Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.
Savastano MC; Institute of Ophthalmology, Università Cattolica del Sacro Cuore - Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.
Federici M; Institute of Ophthalmology, Università Cattolica del Sacro Cuore - Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.
Bertelli M; MAGI, Human Medical Genetics Institute, Bolzano, Italy.
Maltese PE; MAGI, Human Medical Genetics Institute, Bolzano, Italy.
Placidi G; Institute of Ophthalmology, Università Cattolica del Sacro Cuore - Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.
Corbo G; Department of Ophthalmology, Università La Sapienza, Rome, Italy.
Falsini B; Institute of Ophthalmology, Università Cattolica del Sacro Cuore - Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.
Caporossi A; Institute of Ophthalmology, Università Cattolica del Sacro Cuore - Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.; Pokaż więcej
Źródło:: Journal of medical case reports [J Med Case Rep] 2018 Oct 03; Vol. 12 (1), pp. 287. Date of Electronic Publication: 2018 Oct 03.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Eye Diseases, Hereditary*/diagnosis
Eye Diseases, Hereditary*/genetics
Eye Diseases, Hereditary*/physiopathology
Retina*/diagnostic imaging
Retina*/pathology
Retinal Degeneration*/diagnosis
Retinal Degeneration*/genetics
Retinal Degeneration*/physiopathology
Vision Disorders*/diagnosis
Vision Disorders*/genetics
Vision Disorders*/physiopathology
Computed Tomography Angiography/*methods
Tomography, Optical Coherence/*methods
Adolescent ; Electroretinography/methods ; Female ; Fundus Oculi ; Humans ; Mutation, Missense ; Orphan Nuclear Receptors/genetics ; Visual Acuity
SCR Disease Name:: Enhanced S-Cone Syndrome

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Tytuł:: Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.
Autorzy:: Iarossi G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
Bertelli M; MAGI-Human Medical Genetics Institute, Bolzano, Italy.
Maltese PE; MAGI-Human Medical Genetics Institute, Rovereto, Italy.
Gusson E; Eye Clinic, Department of Neurosciences, Biomedicine and Movement, University and AOUI (Azienda Ospedaliera Universitaria Integrata) of Verona, Verona, Italy.
Marchini G; Eye Clinic, Department of Neurosciences, Biomedicine and Movement, University and AOUI (Azienda Ospedaliera Universitaria Integrata) of Verona, Verona, Italy.
Bruson A; MAGI-Human Medical Genetics Institute, Rovereto, Italy.
Benedetti S; MAGI-Human Medical Genetics Institute, Rovereto, Italy.
Volpetti S; Dipartimento Anestesia e Rianimazione Materno Infantile, Ospedale San Filippo Neri, Rome, Italy.
Catena G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
Buzzonetti L; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
Ziccardi L; 'G.B. Bietti' Foundation, IRCCS, Rome, Italy.; Pokaż więcej
Źródło:: Journal of ophthalmology [J Ophthalmol] 2017; Vol. 2017, pp. 3080245. Date of Electronic Publication: 2017 Jul 05.
Typ publikacji:: Journal Article

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Tytuł:: Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy".
Autorzy:: Iarossi G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
Bertelli M; MAGI-Human Medical Genetics Institute, Bolzano, Italy.
Maltese PE; MAGI-Human Medical Genetics Institute, Rovereto, Italy.
Gusson E; Eye Clinic, Department of Neurosciences, Biomedicine and Movement, University and AOUI (Azienda Ospedaliera Universitaria Integrata) of Verona, Verona, Italy.
Marchini G; Eye Clinic, Department of Neurosciences, Biomedicine and Movement, University and AOUI (Azienda Ospedaliera Universitaria Integrata) of Verona, Verona, Italy.
Bruson A; MAGI-Human Medical Genetics Institute, Rovereto, Italy.
Benedetti S; MAGI-Human Medical Genetics Institute, Rovereto, Italy.
Volpetti S; Dipartimento Anestesia e Rianimazione Materno Infantile, Ospedale San Filippo Neri, Rome, Italy.
Catena G; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
Buzzonetti L; Department of Ophthalmology, Bambino Gesù IRCCS Children's Hospital, Rome, Italy.
Ziccardi L; 'G.B. Bietti' Foundation, IRCCS, Rome, Italy.; Pokaż więcej
Źródło:: Journal of ophthalmology [J Ophthalmol] 2017; Vol. 2017, pp. 7969364. Date of Electronic Publication: 2017 Nov 30.
Typ publikacji:: Published Erratum

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