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Tytuł:
Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.
Autorzy:
Patrizi S; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Miele E; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. .
Falcone L; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Pathology Unit, Augusto Murri Hospital, Azienda Sanitaria Territoriale di Fermo - Marche, Fermo, Italy.
Vallese S; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Rossi S; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Barresi S; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Giovannoni I; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Pedace L; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Nardini C; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Masier I; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Abballe L; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Cacchione A; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Russo I; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Di Giannatale A; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Di Ruscio V; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Salgado CM; Division of Pathology, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Mastronuzzi A; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Milano GM; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Locatelli F; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, Rome, Italy.
Alaggio R; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. .
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2024 Jan 04; Vol. 16 (1), pp. 9. Date of Electronic Publication: 2024 Jan 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Neurofibrosarcoma*/diagnosis
Neurofibrosarcoma*/genetics
Neurofibrosarcoma*/pathology
Rhabdomyosarcoma*
Sarcoma*/diagnosis
Sarcoma*/genetics
Sarcoma*/pathology
Bone Neoplasms*
Humans ; Child ; Histones/metabolism ; DNA Methylation ; Retrospective Studies ; DNA Copy Number Variations ; Protein-Tyrosine Kinases ; Ribonuclease III ; DEAD-box RNA Helicases
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.
Autorzy:
Nakhaei-Rad S; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Stem Cell Biology and Regenerative Medicine Research Group, Institute of Biotechnology, Ferdowsi University of Mashhad, Mashhad, Iran.
Haghighi F; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Clinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany.
Bazgir F; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Dahlmann J; German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany.; Institute of Human Genetics, University Hospital, Otto von Guericke-University, Magdeburg, Germany.
Busley AV; German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany.; Stem Cell Unit, Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells', University of Göttingen, Göttingen, Germany.
Buchholzer M; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Kleemann K; Clinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany.
Schänzer A; Institute of Neuropathology, Justus Liebig University Giessen, Giessen, Germany.
Borchardt A; Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Hahn A; Department of Child Neurology, Justus Liebig University Giessen, 35392, Giessen, Germany.
Kötter S; Institute of Cardiovascular Physiology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Schanze D; Institute of Human Genetics, University Hospital, Otto von Guericke-University, Magdeburg, Germany.
Anand R; Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Funk F; Institute of Pharmacology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Kronenbitter AV; Institute of Pharmacology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Scheller J; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Piekorz RP; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Reichert AS; Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Volleth M; Institute of Human Genetics, University Hospital, Otto von Guericke-University, Magdeburg, Germany.
Wolf MJ; Department of Medicine and Robert M. Berne Cardiovascular Research Center, University of Virginia, Charlottesville, VA, 22908, USA.
Cirstea IC; Institute of Comparative Molecular Endocrinology, University of Ulm, Helmholtzstrasse 8/1, 89081, Ulm, Germany.
Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Schmitt JP; Institute of Pharmacology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Krüger M; Institute of Cardiovascular Physiology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Kutschka I; Clinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany.
Cyganek L; German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany.; Stem Cell Unit, Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells', University of Göttingen, Göttingen, Germany.
Zenker M; Institute of Human Genetics, University Hospital, Otto von Guericke-University, Magdeburg, Germany. .
Kensah G; Clinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany. .; German Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany. .
Ahmadian MR; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany. .
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Źródło:
Communications biology [Commun Biol] 2023 Jun 21; Vol. 6 (1), pp. 657. Date of Electronic Publication: 2023 Jun 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cardiomyopathy, Hypertrophic*/genetics
Cardiomyopathy, Hypertrophic*/metabolism
Cardiomyopathy, Hypertrophic*/pathology
Noonan Syndrome*/genetics
Noonan Syndrome*/complications
Noonan Syndrome*/metabolism
Proto-Oncogene Proteins c-raf*/genetics
Humans ; Germ-Line Mutation ; Myocytes, Cardiac/metabolism ; Signal Transduction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
In-person versus virtual administration of the American College of Rheumatology gold standard cognitive battery in systemic lupus erythematosus: Are they interchangeable?
Autorzy:
Barraclough ML; Schroeder Arthritis Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.; Centre for Epidemiology Versus Arthritis, Division of Musculoskeletal and Dermatological Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; NIHR Manchester Biomedical Research Centre, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Manchester, UK.
Diaz-Martinez JP; Schroeder Arthritis Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.; Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University of Toronto Lupus Clinic, Toronto, ON, Canada.
Knight A; Division of Rheumatology, Hospital for Sick Children, Toronto, ON, Canada.; Neurosciences and Mental Health Program, SickKids Research Institute, Toronto, ON, Canada.
Bingham K; Centre for Mental Health, University Health Network, Toronto, ON, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
Su J; Schroeder Arthritis Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.; Division of Rheumatology, Hospital for Sick Children, Toronto, ON, Canada.
Kakvan M; Schroeder Arthritis Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.; Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University of Toronto Lupus Clinic, Toronto, ON, Canada.
Grajales CM; Schroeder Arthritis Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.; Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University of Toronto Lupus Clinic, Toronto, ON, Canada.
Tartaglia MC; Krembil Research Institute, University Health Network Memory Clinic, Toronto, ON, Canada.
Ruttan L; University Health Network-Toronto Rehabilitation Institute, Toronto, ON, Canada.
Wither J; Schroeder Arthritis Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.
Choi MY; Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Bonilla D; Schroeder Arthritis Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.; Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University of Toronto Lupus Clinic, Toronto, ON, Canada.
Anderson N; Schroeder Arthritis Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.; Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University of Toronto Lupus Clinic, Toronto, ON, Canada.
Appenzeller S; Department of Orthopaedics, Rheumatology and Traumatology, University of Campinas, São Paulo, Brazil.
Parker B; Centre for Epidemiology Versus Arthritis, Division of Musculoskeletal and Dermatological Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; NIHR Manchester Biomedical Research Centre, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Manchester, UK.
Katz P; University of California, San Francisco, CA, USA.
Beaton D; Institute for Work and Health, University of Toronto, Toronto, ON, Canada.
Green R; Krembil Research Institute, University Health Network Memory Clinic, Toronto, ON, Canada.
Bruce IN; Centre for Epidemiology Versus Arthritis, Division of Musculoskeletal and Dermatological Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; NIHR Manchester Biomedical Research Centre, Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Manchester, UK.
Touma Z; Schroeder Arthritis Institute, Krembil Research Institute, University Health Network, Toronto, ON, Canada.; Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, University of Toronto Lupus Clinic, Toronto, ON, Canada.
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Źródło:
Lupus [Lupus] 2023 May; Vol. 32 (6), pp. 737-745. Date of Electronic Publication: 2023 Apr 10.
Typ publikacji:
Journal Article
MeSH Terms:
Lupus Erythematosus, Systemic*/complications
Lupus Erythematosus, Systemic*/psychology
Rheumatology*
COVID-19*/complications
Humans ; United States ; Retrospective Studies ; Longitudinal Studies ; Pandemics ; Cognition
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes.
Autorzy:
Muto V; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Benigni F; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Department of Science, University Roma Tre, 00146 Rome, Italy.
Magliocca V; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Borghi R; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Pallottini V; Department of Science, University Roma Tre, 00146 Rome, Italy.; Neuroendocrinology Metabolism and Neuropharmacology Unit, IRCSS Fondazione Santa Lucia, 00143 Rome, Italy.
Rosa A; Department of Biology and Biotechnologies 'Charles Darwin', Sapienza University of Rome, 00185 Rome, Italy.; Center for Life Nano- & Neuro-Science, Fondazione Istituto Italiano di Tecnologia (IIT), 00161 Rome, Italy.
Compagnucci C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Apr 28; Vol. 24 (9). Date of Electronic Publication: 2023 Apr 28.
Typ publikacji:
Journal Article
MeSH Terms:
CRISPR-Cas Systems*/genetics
Induced Pluripotent Stem Cells*
Animals ; Humans ; Endophenotypes ; Cell Differentiation/genetics ; Gene Editing ; Mutation ; Microtubule-Associated Proteins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome.
Autorzy:
Onesimo R; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A, Gemelli-IRCCS, 00168, Rome, Italy.; Università Cattolica del Sacro Cuore, Largo Vito 1, 00168, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, 00168, Rome, Italy.
Sforza E; Università Cattolica del Sacro Cuore, Largo Vito 1, 00168, Rome, Italy. .
Giorgio V; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A, Gemelli-IRCCS, 00168, Rome, Italy.; Università Cattolica del Sacro Cuore, Largo Vito 1, 00168, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, 00168, Rome, Italy.
Rigante D; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A, Gemelli-IRCCS, 00168, Rome, Italy.; Università Cattolica del Sacro Cuore, Largo Vito 1, 00168, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, 00168, Rome, Italy.
Kuczynska E; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A, Gemelli-IRCCS, 00168, Rome, Italy.
Leoni C; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A, Gemelli-IRCCS, 00168, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, 00168, Rome, Italy.
Proli F; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, 00168, Rome, Italy.
Agazzi C; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, 00168, Rome, Italy.
Limongelli D; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, 00168, Rome, Italy.
Cerchiari A; Feeding and Swallowing Services Unit, Dept. Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital-IRCCS, 00168, Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00168, Rome, Italy.
Zampino G; Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A, Gemelli-IRCCS, 00168, Rome, Italy.; Università Cattolica del Sacro Cuore, Largo Vito 1, 00168, Rome, Italy.; Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, 00168, Rome, Italy.
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Źródło:
European journal of pediatrics [Eur J Pediatr] 2023 Apr; Vol. 182 (4), pp. 1869-1877. Date of Electronic Publication: 2023 Feb 17.
Typ publikacji:
Journal Article
MeSH Terms:
CHARGE Syndrome*/complications
Deglutition Disorders*/etiology
Child ; Infant, Newborn ; Humans ; Child, Preschool ; Adolescent ; Young Adult ; Adult ; Deglutition ; Retrospective Studies ; Enteral Nutrition/adverse effects
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos.
Autorzy:
Venditti M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Pedalino C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Rosello M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 Rue Moreau, 75012, Paris, France.; Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215, 75005, Paris, France.
Fasano G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Serafini M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 Rue Moreau, 75012, Paris, France.
Revenu C; Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215, 75005, Paris, France.
Del Bene F; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 Rue Moreau, 75012, Paris, France.; Institut Curie, PSL Research University, INSERM U934, CNRS UMR3215, 75005, Paris, France.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Lauri A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy. .
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Źródło:
Scientific reports [Sci Rep] 2022 Dec 30; Vol. 12 (1), pp. 22597. Date of Electronic Publication: 2022 Dec 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Zebrafish*/genetics
Genetic Engineering*
Animals ; Humans ; Genotype ; Biopsy ; Models, Animal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
Autorzy:
Ziccardi L; IRCCS-Fondazione Bietti, 00198 Rome, Italy.
Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Stellacci E; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy.
Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Tatti M; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy.
Bruselles A; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy.
Mancini C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Barbano L; IRCCS-Fondazione Bietti, 00198 Rome, Italy.
Cecchetti S; Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy.
Costanzo E; IRCCS-Fondazione Bietti, 00198 Rome, Italy.
Cappa M; Unit of Endocrinology, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165 Rome, Italy.
Parravano M; IRCCS-Fondazione Bietti, 00198 Rome, Italy.
Varano M; IRCCS-Fondazione Bietti, 00198 Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Cordeddu V; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Nov 24; Vol. 23 (23). Date of Electronic Publication: 2022 Nov 24.
Typ publikacji:
Case Reports
MeSH Terms:
Ciliopathies*/genetics
Retinal Dystrophies*/genetics
Humans ; Adult ; Cilia/genetics ; Retina ; Proteins/genetics ; Obesity ; Mutation ; Pedigree
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Holistic tool for ecosystem services and disservices assessment in the urban forests of the Real Bosco di Capodimonte, Naples.
Autorzy:
Prigioniero A; Department of Sciences and Technologies, University of Sannio, Via De Sanctis snc, 82100, Benevento, Italy.
Paura B; Department of Agriculture Environment and Food, University of Molise, Via De Sanctis snc, 86100, Campobasso, Italy.
Zuzolo D; Department of Sciences and Technologies, University of Sannio, Via De Sanctis snc, 82100, Benevento, Italy. .
Tartaglia M; Department of Sciences and Technologies, University of Sannio, Via De Sanctis snc, 82100, Benevento, Italy.
Postiglione A; Department of Sciences and Technologies, University of Sannio, Via De Sanctis snc, 82100, Benevento, Italy.
Scarano P; Department of Sciences and Technologies, University of Sannio, Via De Sanctis snc, 82100, Benevento, Italy.
Bellenger S; Ministry of Culture, Museo E Real Bosco Di Capodimonte, Via Miano, 80131, Naples, Italy.
Capuano A; Ministry of Culture, Museo E Real Bosco Di Capodimonte, Via Miano, 80131, Naples, Italy.
Serpe E; Ministry of Culture, Museo E Real Bosco Di Capodimonte, Via Miano, 80131, Naples, Italy.
Sciarrillo R; Department of Sciences and Technologies, University of Sannio, Via De Sanctis snc, 82100, Benevento, Italy.
Guarino C; Department of Sciences and Technologies, University of Sannio, Via De Sanctis snc, 82100, Benevento, Italy.
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Źródło:
Scientific reports [Sci Rep] 2022 Sep 30; Vol. 12 (1), pp. 16413. Date of Electronic Publication: 2022 Sep 30.
Typ publikacji:
Journal Article
MeSH Terms:
Ecosystem*
Volatile Organic Compounds*
Carbon ; Forests ; Oxygen ; Trees
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Autorzy:
Alfieri P; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Macchiaiolo M; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Collotta M; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Montanaro FAM; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Caciolo C; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Cumbo F; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Galassi P; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Panfili FM; Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Cortellessa F; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Zollino M; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, 00168 Roma, Italy.
Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', 73039 Tricase, Italy.
Seri M; Unit of Medical Genetics, Azienda Ospedaliero Universitaria di Bologna, IRCCS, 40126 Bologna, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Bartuli A; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Mammì C; Operative Unit of Medical Genetics Bianchi-Melacrino-Morelli Great Metropolitan Hospital, 89133 Reggio Calabria, Italy.
Vicari S; Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Priolo M; Operative Unit of Medical Genetics Bianchi-Melacrino-Morelli Great Metropolitan Hospital, 89133 Reggio Calabria, Italy.
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Źródło:
Journal of clinical medicine [J Clin Med] 2022 Jul 14; Vol. 11 (14). Date of Electronic Publication: 2022 Jul 14.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Autorzy:
Macchiaiolo M; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy. .
Panfili FM; University of Rome Tor Vergata, Rome, Italy.; Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Vecchio D; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
Gonfiantini MV; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
Cortellessa F; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
Caciolo C; Child and Adolescent Psychiatric Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Zollino M; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Rome, Italy.
Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico', Tricase, Lecce, Italy.
Seri M; Unit of Medical Genetics, IRCCS Azienda Ospedaliero Universitaria di Bologna, Bologna, Italy.
Chinali M; Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital IRCSS, Rome, Italy.
Mammì C; Operative Unit of Medical Genetics, Bianchi-Melacrino-Morelli Hospital, V. Melacrino, 89100, Reggio Calabria, Italy.
Tartaglia M; Genetics and Rare Disease Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bartuli A; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCSS, Piazza di Sant'Onofrio, 4, 00165, Rome, Italy.
Alfieri P; Child and Adolescent Psychiatric Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Priolo M; Operative Unit of Medical Genetics, Bianchi-Melacrino-Morelli Hospital, V. Melacrino, 89100, Reggio Calabria, Italy. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jun 18; Vol. 17 (1), pp. 235. Date of Electronic Publication: 2022 Jun 18.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/diagnosis
Intellectual Disability*
Humans ; Italy ; NFI Transcription Factors ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.
Autorzy:
Borghi R; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.
Magliocca V; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.
Trivisano M; Department of Neurosciences, Rare and Complex Epilepsy Unit, Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, 00165 Rome, Italy.
Specchio N; Department of Neurosciences, Rare and Complex Epilepsy Unit, Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, 00165 Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.
Bertini E; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.
Compagnucci C; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, IRCCS, 00165 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Mar 23; Vol. 23 (7). Date of Electronic Publication: 2022 Mar 23.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Epilepsy*/pathology
Induced Pluripotent Stem Cells*/pathology
Animals ; Brain/pathology ; Cadherins/genetics ; Cluster Analysis ; Mice ; Organoids/pathology ; Protocadherins ; Zebrafish
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome.
Autorzy:
Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Bhai P; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pedace L; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Miele E; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Genevieve D; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1183-Institute for Regenerative Medicine and Biotherapy, Montpellier University, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France.
Heide S; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.
Alders M; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Zampino G; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.; Facoltà di Medicina e Chirurgia, Università Cattolica del S. Cuore, 20123 Roma, Italy.
Merla G; Department of Molecular Medicine and Medical Biotechnology, Università di Napoli 'Federico II', 80131 Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Fradin M; Service de Génétique, CHU de Rennes, 35203 Rennes, France.
Bieth E; Medical Genetics Department, University of Angers, CHU Angers, 49000 Angers, France.
Bonneau D; Department of genetics, CHU d'Angers, 49000 Angers, France and MitoVasc, UMR CNRS 6015-INSERM 1083, University of Angers, 49055 Angers, France.
Dieterich K; CHU Grenoble Alpes, Inserm, U1209, Institute of Advanced Biosciences, Université Grenoble Alpes, 38000 Grenoble, France.
Fergelot P; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.
Schaefer E; Service de Génétique Médicale-Institut de Génétique Médicale d'Alsace-Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France.
Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, Department of Medical Genetics, Dijon University Hospital, 21000 Dijon, France.
Vitobello A; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, Department of Medical Genetics, Dijon University Hospital, 21000 Dijon, France.
Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, 20900 Monza, Italy.
Fischetto R; Clinical Genetics Unit, Department of Pediatric Medicine, Giovanni XXIII Children's Hospital, 02115 Bari, Italy.
Gervasini C; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
Piccione M; Department of Sciences for Health Promotion and Mother and Child Care 'G. D'Alessandro', University of Palermo, 90127 Palermo, Italy.
van de Laar I; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Lebre AS; Team Physiopathologie des Maladies Psychiatriques, GDR3557-Institut de Psychiatrie, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université de Paris, 75006 Paris, France.; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de GénéTique, 51100 Reims, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Feb 05; Vol. 23 (3). Date of Electronic Publication: 2022 Feb 05.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/diagnosis
Intellectual Disability*/pathology
Craniofacial Abnormalities ; DNA ; DNA Methylation ; Facies ; Growth Disorders ; Humans ; Hypertrichosis ; Phenotype ; Syndrome
SCR Disease Name:
Wiedemann Grosse Dibbern syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Correction to: Focal adhesion kinase inhibitor TAE226 combined with Sorafenib slows down hepatocellular carcinoma by multiple epigenetic effects.
Autorzy:
Romito I; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesu Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy.
Porru M; Unit of Oncogenomic and Epigenetic, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Braghini MR; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesu Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy.
Pompili L; Unit of Oncogenomic and Epigenetic, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Panera N; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesu Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy.
Crudele A; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesu Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy.
Gnani D; Experimental Imaging Center, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.
De Stefanis C; Core Facilities, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Scarsella M; Core Facilities, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Pomella S; Department of Paediatric Haematology/Oncology and Cellular and Gene Therapy, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Mortera SL; Unit of Human Microbiome, Multimodal Laboratory Medicine Research Area, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
de Billy E; Department of Paediatric Haematology/Oncology and Cellular and Gene Therapy, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Conti AL; Core Facilities, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Marzano V; Unit of Human Microbiome, Multimodal Laboratory Medicine Research Area, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Putignani L; Unit of Human Microbiome, Multimodal Laboratory Medicine Research Area, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.; Unit of Microbiomics, Microbiology and Immunological Diagnostics, Department of Diagnostics and Laboratory Medicine Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Vinciguerra M; International Clinical Research Center, St. Anne's University Hospital, Brno, Czech Republic.; Department of Translational Stem Cell Biology, Research Institute of the Medical University of Varna, 9002, Varna, Bulgaria.
Balsano C; Department of Life, Health and Environmental Sciences MESVA, University of L'Aquila, L'Aquila, Italy.; Francesco Balsano Foundation, Rome, Italy.
Pastore A; Research Unit of Diagnostical and Management Innovations, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Rota R; Department of Paediatric Haematology/Oncology and Cellular and Gene Therapy, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
Leonetti C; Unit of Oncogenomic and Epigenetic, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Alisi A; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesu Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy. .
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Źródło:
Journal of experimental & clinical cancer research : CR [J Exp Clin Cancer Res] 2022 Jan 27; Vol. 41 (1), pp. 40. Date of Electronic Publication: 2022 Jan 27.
Typ publikacji:
Published Erratum
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Induced Pluripotent Stem Cells (iPSCs) and Gene Therapy: A New Era for the Treatment of Neurological Diseases.
Autorzy:
Paolini Sguazzi G; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Muto V; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Bertini E; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Compagnucci C; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 20; Vol. 22 (24). Date of Electronic Publication: 2021 Dec 20.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Therapy/*methods
Induced Pluripotent Stem Cells/*cytology
Nervous System Diseases/*therapy
Stem Cell Transplantation/*methods
CRISPR-Cas Systems ; Clinical Trials as Topic ; Gene Editing ; Humans ; Nervous System Diseases/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Autorzy:
Di Candia F; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
Marchetti V; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
Cirillo F; Regional Reference Centre for Coagulation Disorders, Department of Clinical and Experimental Medicine, Federico II University of Naples, Naples, Italy.
Di Minno A; Regional Reference Centre for Coagulation Disorders, Department of Clinical and Experimental Medicine, Federico II University of Naples, Naples, Italy.
Rosano C; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
Pagano S; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
Siano MA; Department of Medicine, Surgery and Dentistry, University of Salerno, Baronissi, Salerno, Italy.; Pediatric Unit, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Salerno, Italy.
Falco M; Pediatric Unit, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Salerno, Italy.
Assunto A; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
Boccia G; Department of Medicine, Surgery and Dentistry, University of Salerno, Baronissi, Salerno, Italy.
Magliacane G; Clinic Pathology, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Salerno, Italy.
Pinna V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Di Minno G; Regional Reference Centre for Coagulation Disorders, Department of Clinical and Experimental Medicine, Federico II University of Naples, Naples, Italy.
Strisciuglio P; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
Melis D; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy. .; Department of Medicine, Surgery and Dentistry, University of Salerno, Baronissi, Salerno, Italy. .; Pediatric Unit, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Salerno, Italy. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Dec 02; Vol. 16 (1), pp. 499. Date of Electronic Publication: 2021 Dec 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Hemostatics*
Noonan Syndrome*/diagnosis
Noonan Syndrome*/genetics
Blood Coagulation Tests/adverse effects ; Blood Coagulation Tests/methods ; Blood Platelets ; Child ; Hemorrhage ; Humans ; Transcription Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Focal adhesion kinase inhibitor TAE226 combined with Sorafenib slows down hepatocellular carcinoma by multiple epigenetic effects.
Autorzy:
Romito I; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy.
Porru M; Unit of Oncogenomic and Epigenetic, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Braghini MR; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy.
Pompili L; Unit of Oncogenomic and Epigenetic, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Panera N; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy.
Crudele A; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy.
Gnani D; Experimental Imaging Center, IRCCS San Raffaele Scientific Institute, 20132, Milan, Italy.
De Stefanis C; Core Facilities, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Scarsella M; Core Facilities, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Pomella S; Department of Paediatric Haematology/Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Levi Mortera S; Unit of Human Microbiome, Multimodal Laboratory Medicine Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
de Billy E; Department of Paediatric Haematology/Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Conti AL; Core Facilities, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Marzano V; Unit of Human Microbiome, Multimodal Laboratory Medicine Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Putignani L; Unit of Human Microbiome, Multimodal Laboratory Medicine Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Unit of Microbiomics, Microbiology and Immunological Diagnostics, Department of Diagnostics and Laboratory Medicine Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Vinciguerra M; International Clinical Research Center, St. Anne's University Hospital, Brno, Czech Republic.; Department of Translational Stem Cell Biology, Research Institute of the Medical University of Varna, 9002, Varna, Bulgaria.
Balsano C; Department of Life, Health and Environmental Sciences MESVA, University of L'Aquila, L'Aquila, Italy.; Francesco Balsano Foundation, Rome, Italy.
Pastore A; Research Unit of Diagnostical and Management Innovations, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Rota R; Department of Paediatric Haematology/Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Leonetti C; Unit of Oncogenomic and Epigenetic, IRCCS Regina Elena National Cancer Institute, Rome, Italy.
Alisi A; Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, Via S. Paolo, 15, 00146, Rome, Italy. .
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Źródło:
Journal of experimental & clinical cancer research : CR [J Exp Clin Cancer Res] 2021 Nov 16; Vol. 40 (1), pp. 364. Date of Electronic Publication: 2021 Nov 16.
Typ publikacji:
Journal Article
MeSH Terms:
Antineoplastic Combined Chemotherapy Protocols/*therapeutic use
Carcinoma, Hepatocellular/*drug therapy
Epigenesis, Genetic/*genetics
Liver Neoplasms/*drug therapy
Morpholines/*therapeutic use
Sorafenib/*therapeutic use
Animals ; Antineoplastic Combined Chemotherapy Protocols/pharmacology ; Cell Line, Tumor ; Cell Proliferation ; Humans ; Male ; Mice ; Mice, Inbred NOD ; Morpholines/pharmacology ; Sorafenib/pharmacology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity.
Autorzy:
Siano MA; Department of Medicine, Surgery and Dentistry, 'Scuola Medica Salernitana', Salerno, Italy.
Marchetti V; Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli 'Federico II', Napoli, Italy.
Pagano S; Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli 'Federico II', Napoli, Italy.
Di Candia F; Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli 'Federico II', Napoli, Italy.
Alessio M; Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli 'Federico II', Napoli, Italy.
De Brasi D; Dipartimento di Pediatria, A.O.R.N. 'Santobono-Pausillipon', Napoli, Italy.
De Luca A; Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Foggia, Italy.
Pinna V; Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Foggia, Italy.
Sestito S; Dipartimento di Medicina Clinica e Sperimentale, Università 'Magna Graecia' di Catanzaro, Catanzaro, Italy.
Concolino D; Dipartimento di Medicina Clinica e Sperimentale, Università 'Magna Graecia' di Catanzaro, Catanzaro, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Strisciuglio P; Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli 'Federico II', Napoli, Italy.
D'Esposito V; Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli 'Federico II' & Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale Delle Ricerche, Napoli, Italy.
Cabaro S; Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli 'Federico II' & Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale Delle Ricerche, Napoli, Italy.
Perruolo G; Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli 'Federico II' & Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale Delle Ricerche, Napoli, Italy.
Formisano P; Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli 'Federico II' & Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale Delle Ricerche, Napoli, Italy.
Melis D; Department of Medicine, Surgery and Dentistry, 'Scuola Medica Salernitana', Salerno, Italy. .; Dipartimento di Scienze Mediche Traslazionali- Sez. di Pediatria, Università degli Studi di Napoli 'Federico II', Napoli, Italy. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 02; Vol. 16 (1), pp. 410. Date of Electronic Publication: 2021 Oct 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Autoimmune Diseases*
Immunity, Cellular*
Antigens, CD19 ; Autoimmunity ; Humans
Czasopismo naukowe
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Tytuł:
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Autorzy:
Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada.
Capuano A; Department of Neuroscience, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Pedace L; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Travaglini L; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Andreani M; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Miele E; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Invernizzi F; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Reale C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Panteghini C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy.
Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Schultz-Rogers L; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Prontera P; Maternal-Infantile Department, University Hospital of Perugia, Perugia, Italy.
Garibaldi M; Department of Neuroscience, NESMOS, Sapienza University, Sant'Andrea Hospital, Rome, Italy.
Galosi S; Department of Human Neuroscience, Child Neurology and Psychiatry, Sapienza University, Rome, Italy.
Leuzzi V; Department of Human Neuroscience, Child Neurology and Psychiatry, Sapienza University, Rome, Italy.
Soliveri P; Department of Neurology, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Zorzi GS; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Garavaglia BM; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy. marco.tartaglia@opbg.net.
Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A 3K7, Canada. .; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada. .; Molecular Diagnostics Division, London Health Sciences Centre, London, Canada. .
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Źródło:
Clinical epigenetics [Clin Epigenetics] 2021 Aug 11; Vol. 13 (1), pp. 157. Date of Electronic Publication: 2021 Aug 11.
Typ publikacji:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Methylation/*genetics
Dystonic Disorders/*complications
Dystonic Disorders/*genetics
Dystonic Disorders/*physiopathology
Histone-Lysine N-Methyltransferase/*genetics
Histone-Lysine N-Methyltransferase/*metabolism
Adolescent ; Adult ; Age Factors ; Child ; Child, Preschool ; Cohort Studies ; Epigenesis, Genetic ; Female ; Genetic Variation ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mutation ; Phenotype
Czasopismo naukowe
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Tytuł:
Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis.
Autorzy:
Borghi R; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Department of Science, University 'Roma Tre', 00146 Rome, Italy.
Magliocca V; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Department of Science, University 'Roma Tre', 00146 Rome, Italy.
Petrini S; Confocal Microscopy Core Facility, Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Conti LA; Confocal Microscopy Core Facility, Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Moreno S; Department of Science, University 'Roma Tre', 00146 Rome, Italy.
Bertini E; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Compagnucci C; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
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Źródło:
Journal of clinical medicine [J Clin Med] 2021 Jun 23; Vol. 10 (13). Date of Electronic Publication: 2021 Jun 23.
Typ publikacji:
Journal Article
Czasopismo naukowe
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Tytuł:
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Autorzy:
Pavinato L; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Center for Molecular Medicine Cologne, Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany.
Nematian-Ardestani E; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, MSD-2080 Msida, Malta.
Zonta A; Unit of Medical Genetics, 'Città della Salute e della Scienza' University Hospital, 10126 Turin, Italy.
De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Buxbaum J; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Mancini C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165 Rome, Italy.
Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165 Rome, Italy.
Pessia M; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, MSD-2080 Msida, Malta.; Department of Physiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain P.O. Box 17666, United Arab Emirates.
Tucker SJ; Clarendon Laboratory, Department of Physics, University of Oxford, Oxford OX1 4BH, UK.
D'Adamo MC; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, MSD-2080 Msida, Malta.
Brusco A; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Unit of Medical Genetics, 'Città della Salute e della Scienza' University Hospital, 10126 Turin, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 04; Vol. 22 (11). Date of Electronic Publication: 2021 Jun 04.
Typ publikacji:
Journal Article
MeSH Terms:
Alleles*
Intellectual Disability/*genetics
Mutation/*genetics
Neurodevelopmental Disorders/*genetics
Potassium Channels/*genetics
Adolescent ; Adult ; Amino Acid Sequence ; Animals ; Base Sequence ; Calcineurin/metabolism ; Female ; Genome, Human ; Humans ; Ion Channel Gating/drug effects ; Ionomycin/pharmacology ; Male ; Pedigree ; Potassium Channels/chemistry ; Siblings ; Xenopus laevis/metabolism ; Young Adult
Czasopismo naukowe
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