المؤلفون: Elisabetta Bucci, Michelangelo Cao, Lucia Morandi, M. Servida, Giovanni Antonini, Francesco Sera, Giuliana Galluzzi, Isabella Scionti, Jessica Daolio, Giuliano Tomelleri, Carmelo Rodolico, Maurizio Moggio, Enzo Ricci, Fabiano Mele, Tiziana Mongini, Lorenzo Maggi, A. Di Muzio, Liliana Vercelli, Elisabetta Iannaccone, Ilaria Frambolli, Giulia Ricci, Lucia Ruggiero, L. Santoro, Ana Nikolic, Roberto D'Amico, Corrado Angelini, Angela Berardinelli, Maruotti, Gabriele Siciliano, Monica Govi, Massimiliano Filosto, R. Di Leo, Ebe Pastorello, Rossella Tupler

المساهمون: G., Ricci, I., Scionti, F., Sera, M., Govi, R., D'Amico, I., Frambolli, F., Mele, M., Filosto, L., Vercelli, Ruggiero, Lucia, A., Berardinelli, C., Angelini, G., Antonini, E., Bucci, M., Cao, J., Daolio, A., Di Muzio, R., Di Leo, G., Galluzzi, E., Iannaccone, L., Maggi, V., Maruotti, M., Moggio, T., Mongini, L., Morandi, A., Nikolic, E., Pastorello, E., Ricci, C., Rodolico, Santoro, Lucio, M., Servida, G., Siciliano, G., Tomelleri, R., Tupler

المصدر: Brain

مصطلحات موضوعية: Proband, Male, Facioscapulohumeral, genotype-phenotype correlations, facioscapulohumeral muscular dystrophy, d4z4 reduced allele, disease expression, penetrance, D4Z4 reduced allele, Disease expression, Facioscapulohumeral muscular dystrophy, Genotype-phenotype correlations, Penetrance, Chromosome Disorders, Disease, human molecular genetics, 0302 clinical medicine, Genotype, Muscular Dystrophy, Registries, Genetics, 0303 health sciences, Middle Aged, Prognosis, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Settore MED/26 - NEUROLOGIA, Pair 4, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, Human, musculoskeletal diseases, Adult, Adolescent, Biology, genotype-phenotype correlation, Chromosomes, genotype–phenotype correlations, 03 medical and health sciences, Young Adult, DUX4, medicine, Humans, Genetic Predisposition to Disease, Allele, Genetic Association Studies, 030304 developmental biology, Aged, Homeodomain Proteins, facioscapulohumeral muscular dystrophy, D4Z4 reduced allele, genotype–phenotype correlations, penetrance, disease expression, Haplotype, Original Articles, medicine.disease, Haplotypes, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53148c37e34d51dba1397b7479c33b46Test
http://hdl.handle.net/2318/138837Test

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

المؤلفون: Elisabetta Morini, Isabella Scionti, Monica Salani, Rossella Tupler

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: medicine.medical_specialty, Molecular genetics, medicine, Facioscapulohumeral muscular dystrophy, Biology, Bioinformatics, medicine.disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5521de8e6660e4118039a3fee81d3587Test
http://www.intechopen.com/articles/show/title/facioscapulohumeral-muscular-dystrophy-from-clinical-data-to-molecular-genetics-and-returnTest

المؤلفون: Giulia Ricci, Chiara Fiorillo, Michelangelo Cao, Giuliano Tomelleri, Liliana Vercelli, G. Fabbri, Alberto Termanini, Rossella Tupler, Francesca Greco, Lucio Santoro, Isabella Scionti, Antonio Percesepe, Roberto D'Amico

المساهمون: Scionti, I, Fabbri, G, Fiorillo, C, Ricci, G, Greco, F, D'Amico, R, Termanini, A, Vercelli, L, Tomelleri, G, Cao, M, Santoro, Lucio, Percesepe, A, Tupler, R.

مصطلحات موضوعية: Male, Facioscapulohumeral, DNA Mutational Analysis, Compound heterozygosity, Gene Frequency, Facioscapulohumeral muscular dystrophy, genetic counselling, prenatal diagnosis, 80 and over, Muscular Dystrophy, Child, Genetics (clinical), Sequence Deletion, Aged, 80 and over, Genetics, education.field_of_study, Autosomal dominant trait, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Pair 4, Tandem Repeat Sequences, Female, Chromosomes, Human, Pair 4, Human, Adult, musculoskeletal diseases, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic counseling, Population, Genetic Counseling, Biology, Chromosomes, Young Adult, medicine, Humans, Allele, education, Allele frequency, Genetic Association Studies, Aged, prenatal genetic counselling, association, Haplotypes, Haplotype, medicine.disease

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c59a9f1cc6a38a46662e58a192fbb4Test
http://hdl.handle.net/11562/386264Test

المؤلفون: Michela Cortinovis, Luciano Tiepolo, Paola Maraschio, Rossella Tupler, Eleonora Dainotti

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

المؤلفون: Simona Orcesi, Angela Berardinelli, Stefania Riva, Maria Grazia D'Angelo, Alessandra Govoni, Rachele Cagliani, Nereo Bresolin, E. Signaroldi, L. Napoli, Stefania Corti, Costanza Lamperti, Francesca Magri, Alessandro Prelle, Anna Pichiecchio, Rossella Tupler, Giacomo P. Comi, Maurizio Moggio, M.E. Fruguglietti, Ksenija Gorni

مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, selenoprotein, Muscle disorder, Biology, Gene mutation, Compound heterozygosity, SEPN1 gene mutation, Muscular Dystrophies, congenital myopathies, medicine, Humans, Myopathy, education, Child, Muscle, Skeletal, Selenoproteins, education.field_of_study, Selenoprotein N, medicine.disease, Congenital myopathy, Magnetic Resonance Imaging, Neurology, Child, Preschool, Mutation, Congenital muscular dystrophy, Female, Neurology (clinical), medicine.symptom, Atrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b35d8b2b5550a926487dfb83ddafc73Test
https://hdl.handle.net/11380/755249Test

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

المؤلفون: Chiara Bernabei, Pietro Cortelli, Paolo Frigio Nichelli, E. Signaroldi, Patrizia Sola, Eleni Georgoulopoulou, Jessica Mandrioli, Rossella Tupler

المساهمون: Mandrioli J., Bernabei C., Georgoulopoulou E., Nichelli P., Cortelli P., Tupler R., Signaroldi E., Sola P.

مصطلحات موضوعية: medicine.medical_specialty, business.industry, General Medicine, Disease, Huntington Disease/*diagnosis, medicine.disease, Dermatology, Neurology, Huntington's disease, Amyotrophic Lateral Sclerosis/*physiopathology, Humans, Medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b99da8a4754b7e56f1de33c08f20291Test
https://hdl.handle.net/11380/648243Test

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

المؤلفون: Costanza, Lamperti, Greta, Fabbri, Liliana, Vercelli, Roberto, D'Amico, Roberto, Frusciante, Emanuela, Bonifazi, Chiara, Fiorillo, Carlo, Borsato, Michelangelo, Cao, Maura, Servida, Francesca, Greco, Rita, Di Leo, Leda, Volpi, Claudia, Manzoli, Paola, Cudia, Ebe, Pastorello, Leopoldo, Ricciardi, Gabriele, Siciliano, Giuliana, Galluzzi, Carmelo, Rodolico, Lucio, Santoro, Giuliano, Tomelleri, Corrado, Angelini, Enzo, Ricci, Laura, Palmucci, Maurizio, Moggio, Rossella, Tupler

المساهمون: Lamperti, C, Fabbri, G, Vercelli, L, D'Amico, R, Frusciante, R, Bonifazi, E, Fiorillo, C, Borsato, C, Cao, M, Servida, M, Greco, F, Di Leo, R, Volpi, L, Manzoli, C, Cudia, P, Pastorello, E, Ricciardi, L, Siciliano, G, Galluzzi, G, Rodolico, C, Santoro, Lucio, Tomelleri, G, Angelini, C, Ricci, E, Palmucci, L, Moggio, M, Tupler, R.

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, clinical evaluation form, FSHD, Muscle Weakness, severity score, facioscapulohumeral muscular dystrophy, Adolescent, clinical severity score, Reproducibility of Results, Middle Aged, Severity of Illness Index, Muscular Dystrophy, Facioscapulohumeral, muscle weakness distribution, Kappa-statistic, Humans, Female, Aged

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6ccea3ecbd1949683609690a3909dbebTest
https://hdl.handle.net/11380/710995Test