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المؤلفون: Mayana Zatz, Rossella Tupler, Giulia Ricci
المصدر: Current Molecular Medicine
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Scopus-Elsevierمصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Genetic counseling, facioscapulohumeral muscular dystrophy, Locus (genetics), genotype-phenotype correlation, Biology, Biochemistry, Genetic analysis, Article, genetic heterogeneity, 03 medical and health sciences, 0302 clinical medicine, D4Z4 reduced allele, diagnostic criteria, genetic counseling, molecular test, muscle disease, medicine, Facioscapulohumeral muscular dystrophy, Allele, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, Genetic heterogeneity, Haplotype, General Medicine, Subtelomere, medicine.disease, nervous system diseases, Molecular Medicine, DISTROFIA MUSCULAR, D4Z4 reduced allele, diagnostic criteria, facioscapulohumeral muscular dystrophy, genetic counseling, genetic heterogeneity, genotype-phenotype correlation, molecular test, muscle disease, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c51f1db2e977774f49699c1aef7d115eTest
https://doi.org/10.2174/1566524014666141010155054Test -
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المصدر: Molecular Therapy. 19(11):2048-2054
مصطلحات موضوعية: Male, RNA interference, gene silencing, muscular dystrophy, FSHD region gene 1, FRG1, Gene mutation, Muscular Dystrophies, Mice, 0302 clinical medicine, Transduction, Genetic, Drug Discovery, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Genetics, Regulation of gene expression, 0303 health sciences, Muscles, Microfilament Proteins, Gene Transfer Techniques, Nuclear Proteins, RNA-Binding Proteins, Dependovirus, Phenotype, Molecular Medicine, RNA Interference, Original Article, medicine.symptom, Genetic Vectors, Mice, Transgenic, Biology, 03 medical and health sciences, medicine, Animals, Humans, Gene silencing, Myopathy, Gene, Molecular Biology, 030304 developmental biology, Pharmacology, Genetic Therapy, medicine.disease, Disease Models, Animal, MicroRNAs, HEK293 Cells, Gene Expression Regulation, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bd9c7415fa0d51335edeb24a48f4d59Test
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المؤلفون: Davide Gabellini, Rossella Tupler
المصدر: Cellular and Molecular Life Sciences (CMLS). 61:557-566
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Heterochromatin, Biology, Cellular and Molecular Neuroscience, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Repeated sequence, Myopathy, Molecular Biology, Gene, Homeodomain Proteins, Pharmacology, Genetics, Muscles, Chromosome, Autosomal dominant trait, Sequence Analysis, DNA, Cell Biology, medicine.disease, Molecular biology, Muscular Dystrophy, Facioscapulohumeral, facioscapulohumeral muscular dystrophy, FSHD, molecular mechanism, Molecular Medicine, Chromosomes, Human, Pair 4, medicine.symptom, Pseudogenes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8210ffd21668f271c8b30f74b2723adTest
https://doi.org/10.1007/s00018-003-3285-3Test -
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المؤلفون: Rossella Tupler, Elena Rossi, Filippo Uccellatore, Marco Fraccaro, Paola Maraschio, Orsetta Zuffardi, Laura Barbierato, Mariano Rocchi
المصدر: Human Genetics. 97:382-386
مصطلحات موضوعية: Adult, Genetic Markers, Marker chromosome, Ring chromosome, Aneuploidy, Chromosome Disorders, Biology, centromero, Intellectual Disability, Prohibitins, Centromere, Genetics, medicine, Humans, Ring Chromosomes, Small supernumerary marker chromosome, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome Aberrations, marker, citogenetica, neocentromero, Chromosome Mapping, Chromosome, medicine.disease, Molecular biology, Chromosome 3, Face, Karyotyping, Female, Chromosomes, Human, Pair 3, Satellite chromosome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1604d464564406a41a3771750c2aeff8Test
https://doi.org/10.1007/bf02185778Test -
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المصدر: Cytogenetic and Genome Research. 65:256-260
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Chromosomal translocation, In situ hybridization, Biology, Y chromosome, Translocation, Genetic, Y Chromosome, Genetics, medicine, Humans, Molecular Biology, In Situ Hybridization, Fluorescence, Genetics (clinical), Southern blot, Azoospermia factor, medicine.diagnostic_test, Cytogenetics, Chromosome, Oligospermia, Molecular biology, Blotting, Southern, Meiosis, Chromosomes, Human, Pair 1, Female, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a124415c27b5949f35ca79229b068e7Test
https://doi.org/10.1159/000133642Test -
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المؤلفون: Justin D. Crane, Mark A. Tarnopolsky, Adeel Safdar, Daniel I. Ogborn, Rossella Tupler, Bart P. Hettinga
المصدر: The FASEB Journal. 24
مصطلحات موضوعية: Genetically modified mouse, medicine.medical_specialty, business.industry, Skeletal muscle, Creatine, Biochemistry, chemistry.chemical_compound, medicine.anatomical_structure, Endocrinology, chemistry, Internal medicine, Genetics, medicine, Exercise physiology, business, Molecular Biology, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3d160a9f0af5d239bbaecf387ce1ac95Test
https://doi.org/10.1096/fasebj.24.1_supplement.618.8Test -
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المؤلفون: Monica Salani, Rossella Tupler, Charlotte Kilstrup-Nielsen, Greta Forlani, Elisa Giarda, Ugo Ala, Nicoletta Landsberger, Ferdinando Di Cunto
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Chromatin Immunoprecipitation, Methyl-CpG-Binding Protein 2, Blotting, Western, Epigenetics of autism, Rett syndrome, Biology, MECP2, Cell Line, Mice, Neurodevelopmental disorder, Cell Line, Tumor, mental disorders, Genetics, medicine, Rett Syndrome, Animals, Humans, Epigenetics, Promoter Regions, Genetic, Molecular Biology, Genetics (clinical), Cells, Cultured, YY1 Transcription Factor, Regulation of gene expression, Mice, Knockout, YY1, Reverse Transcriptase Polymerase Chain Reaction, Adenine Nucleotide Translocator 1, General Medicine, Articles, Fibroblasts, medicine.disease, Gene activation, Phenotype, nervous system diseases, Mice, Inbred C57BL, Gene Expression Regulation, Mutation, Female, RNA Interference, Chromosomes, Human, Pair 4, HeLa Cells, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b76dd9d109ad68c8d5245dead03d6b05Test
http://hdl.handle.net/2318/78836Test -
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المؤلفون: Giuliano Tomelleri, Chiara Savio, Massimiliano Filosto, Michelangelo Mancuso, Mauro Scarpelli, Gaetano Vattemi, Nicolo' Rizzuto, Paola Tonin, Rossella Tupler, Francesca Greco, Vittorio Govoni
المصدر: Neuromuscular disorders : NMD. 18(3)
مصطلحات موضوعية: Mitochondrial DNA, RNA, Transfer, Leu, Biopsy, Molecular Sequence Data, Biology, DNA, Mitochondrial, Mitochondrial myopathy, medicine, Facioscapulohumeral muscular dystrophy, Humans, FSHD, mtDNA, Muscle, Skeletal, Genetics (clinical), Genetics, Muscle biopsy, medicine.diagnostic_test, Transition (genetics), Base Sequence, Point mutation, Middle Aged, medicine.disease, Molecular biology, Heteroplasmy, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Transfer RNA, Nucleic Acid Conformation, Female, Neurology (clinical), Gene Deletion, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c11ec6db490ea3254f1b04e369511741Test
https://pubmed.ncbi.nlm.nih.gov/18343111Test -
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المؤلفون: G. Vaula, Ekaterina Rogaeva, M. Mortilla, Evgeny I. Rogaev, P. St. George-Hyslop, Walter J. Lukiw, Yan Liang, R. Hancock, Rossella Tupler
المصدر: Human molecular genetics. 2(5)
مصطلحات موضوعية: Chromosomes, Human, Pair 21, Molecular Sequence Data, DNA, Satellite, Amyloid beta-Protein Precursor, Gene mapping, Gene Frequency, Microsatellite Repeat, Genetics, Amyloid precursor protein, medicine, Humans, Molecular Biology, Gene, Allele frequency, Genetics (clinical), Alleles, Repetitive Sequences, Nucleic Acid, molecular marker, Polymorphism, Genetic, biology, Base Sequence, Intron, General Medicine, DNA microsatellite, medicine.disease, Molecular biology, Introns, DNA polymorphism, Genetic marker, biology.protein, Alzheimer's disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf9b3417642655cffb9960b4b71312c8Test
https://pubmed.ncbi.nlm.nih.gov/8518820Test -
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المؤلفون: Amalia C. Bruni, Ronald J. Polinsky, M. Mortilla, Sandro Sorbi, Rudolph E. Tanzi, L. Nee, Walter J. Lukiw, G. Vaula, M.P. Montesi, J. F. Foncin, P. St. George-Hyslop, Rossella Tupler
المصدر: Neuroscience letters. 144(1-2)
مصطلحات موضوعية: Molecular Sequence Data, Biology, beta Amyloid Protein Precursor gene, DNA sequencing, law.invention, polymorphism, Exon, Amyloid beta-Protein Precursor, law, mental disorders, medicine, Amyloid precursor protein, familial Alzheimer's disease, Humans, Gene, Polymerase chain reaction, Genetics, Base Sequence, General Neuroscience, Nucleic acid sequence, DNA, Exons, medicine.disease, Molecular biology, genomic DNA, Mutation, biology.protein, Alzheimer's disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4a749f4b22234f85b912d4a7a17d9f2Test
https://pubmed.ncbi.nlm.nih.gov/1436713Test