المؤلفون: Ciaccio C., Redaelli S., Bentivegna A., Marelli S., Crosti F., Sala E. M., Cavallari U.

المساهمون: Ciaccio, C, Redaelli, S, Bentivegna, A, Marelli, S, Crosti, F, Sala, E, Cavallari, U

مصطلحات موضوعية: Premature ovarian failure, Self-immunization, Unbalanced translocation, autosome translocation, Adult, Autoimmune Disease, Chromosome Disorder, Chromosomes, Human, Female, Middle Aged, Pedigree, Phenotype, Pregnancy, X Chromosome Inactivation, Translocation, Genetic

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32018271; info:eu-repo/semantics/altIdentifier/wos/WOS:000530012300004; volume:160; issue:2; firstpage:80; lastpage:84; numberofpages:5; journal:CYTOGENETIC AND GENOME RESEARCH; http://hdl.handle.net/10281/292666Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079530812

الإتاحة: https://doi.org/10.1159/000506097Test
http://hdl.handle.net/10281/292666Test

المؤلفون: Francesca Crosti, Angela Bentivegna, Serena Redaelli, Claudia Ciaccio, Elena Sala, Ugo Cavallari, Susan Marelli

المساهمون: Ciaccio, C, Redaelli, S, Bentivegna, A, Marelli, S, Crosti, F, Sala, E, Cavallari, U

مصطلحات موضوعية: Adult, Chromosomal translocation, Prenatal diagnosis, Chromosome Disorders, Biology, Autoimmune Disease, X-inactivation, Translocation, Genetic, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, X Chromosome Inactivation, Genetics, medicine, Humans, autosome translocation, Molecular Biology, Skewed X-inactivation, Premature ovarian failure, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, Self-immunization, Chromosomes, Human, X, Autosome, Chromosome, Unbalanced translocation, Middle Aged, medicine.disease, Pedigree, Chromosome Disorder, Phenotype, 030220 oncology & carcinogenesis, Female, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71c3e9c69a177fe17064d5385962297eTest
http://hdl.handle.net/10281/292666Test

المؤلفون: Leda Dalprà, Luigina Spaccini, Francesca Crosti, Silvia Maitz, Gaia Roversi, Miriam Rigoldi, Nicoletta Villa, Elena Sala, Angela Bentivegna, Serena Redaelli, Angelo Selicorni, Donatella Conconi

المساهمون: Redaelli, S, Maitz, S, Crosti, F, Sala, E, Villa, N, Spaccini, L, Selicorni, A, Rigoldi, M, Conconi, D, Dalprà, L, Roversi, G, Bentivegna, A

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 20, Iss 5, p 1095 (2019)
Volume 20
Issue 5

مصطلحات موضوعية: 0301 basic medicine, Male, 16p13.11 deletions and duplications, Microarray, Developmental Disabilities, developmental disability, Genome, speech disorder, lcsh:Chemistry, 0302 clinical medicine, Segmental Duplications, Genomic, Copy-number variation, Child, Homologous Recombination, lcsh:QH301-705.5, Spectroscopy, Segmental duplication, Genetics, Comparative Genomic Hybridization, 16p13.11 deletions and duplication, General Medicine, chromosome 16, Phenotype, Computer Science Applications, Child, Preschool, Female, Chromosome Deletion, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, Karyotype, CNV, Biology, Catalysis, Article, Inorganic Chemistry, 16p11.2 deletions and duplications, 03 medical and health sciences, Young Adult, Chromosome 16, Humans, Abnormalities, Multiple, Physical and Theoretical Chemistry, Molecular Biology, Chromosome Aberrations, Genetic heterogeneity, Organic Chemistry, Infant, Newborn, Infant, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, array-CGH, two-hit model, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16, Comparative genomic hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b04463dfeb79acf7895996545bc324a4Test
http://hdl.handle.net/10281/221666Test

المؤلفون: Elena Sala, Leda Dalprà, Nicoletta Villa, Romina Combi, Maria Luisa Tenchini, Francesca Crosti, Luciano Beccaria, Anna Cogliardi

المساهمون: Combi, R, Sala, E, Villa, N, Crosti, F, Beccaria, L, Cogliardi, A, Tenchini, M, Dalpra', L

مصطلحات موضوعية: Male, MED/03 - GENETICA MEDICA, Biology, Ring (chemistry), Pathology and Forensic Medicine, Gene duplication, medicine, Humans, Supernumerary, Abnormalities, Multiple, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosome 7 (human), Genetics, chromosome 7, ring chromosome, Silver-Russell syndrome, uniparental disomy 7, Silver–Russell syndrome, BIO/13 - BIOLOGIA APPLICATA, Infant, General Medicine, Syndrome, Uniparental Disomy, medicine.disease, Phenotype, Karyotyping, Pediatrics, Perinatology and Child Health, Microsatellite, Anatomy, Genomic imprinting, Chromosomes, Human, Pair 7

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6d7e7a3f089b9821f66e348776c69bTest
http://hdl.handle.net/10281/5406Test

المؤلفون: Leda Dalprà, Daniela Giardino, Palma Finelli, Cecilia Corti, Chiara Valtorta, Silvana Guerneri, Patrizia Ilardi, Renato Fortuna, Domenico Coviello, Gianfranco Nocera, Francesco Paolo Amico, Emanuela Martinoli, Elena Sala, Nicoletta Villa, Francesca Crosti, Francamaria Chiodo, Ludovica Verdun di Cantogno, Elisa Savin, Gianfranco Croci, Fabrizia Franchi, Giovanna Venti, Emilio Donti, Valeria Migliori, Antonella Pettinari, Stefania Bonifacio, Claudia Centrone, Francesca Torricelli, Simona Rossi, Paolo Simi, Paola Granata, Rosario Casalone, Elisabetta Lenzini, Lina Artifoni, Vanna Pecile, Sergio Barlati, Daniela Bellotti, Daniele Caufin, Adalgisa Police, Simona Cavani, Giuseppe Piombo, Mauro Pierluigi, Lidia Larizza

المساهمون: Dalpra', L, Giardino, D, Finelli, P, Corti, C, Valtorta, C, Guerneri, S, Ilardi, P, Fortuna, R, Coviello, D, Nocera, G, Amico, F, Martinoli, E, Sala, E, Villa, N, Crosti, F, Chiodo, F, di Cantogno, L, Savin, E, Croci, G, Franchi, F, Venti, G, Donti, E, Migliori, V, Pettinari, A, Bonifacio, S, Centrone, C, Torricelli, F, Rossi, S, Simi, P, Granata, P, Casalone, R, Lenzini, E, Artifoni, L, Pecile, V, Barlati, S, Bellotti, D, Caufin, D, Police, A, Cavani, S, Piombo, G, Pierluigi, M, Larizza, L

مصطلحات موضوعية: Genetics, Chromosome Aberrations, medicine.diagnostic_test, Neocentromere, supernumerary marker chromosomes, cooperative study, genotype–phenotype correlations, prenatal diagnosis, genetic counseling, Genetic counseling, Isochromosome, Inheritance Patterns, Chromosome, Prenatal diagnosis, Biology, Dicentric chromosome, Phenotype, Italy, medicine, Humans, Supernumerary, Genetic Testing, Genetics (clinical), In Situ Hybridization, Fluorescence, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::624fc5449efab3a5dfa3ee4dbddb64a2Test
http://hdl.handle.net/11379/26069Test