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, Serena Redaelli, Leda Dalprà, Gaia Roversi, Francesca Crosti, Silva Maitz, Nicoletta Villa, Donatella Conconi, Marialuisa Lavitrano, Miriam Rigoldi, Rossella Parini

المساهمون: Conconi, D, Villa, N, Redaelli, S, Sala, E, Crosti, F, Maitz, S, Rigoldi, M, Parini, R, Dalprà, L, Lavitrano, M, Roversi, G

المصدر: Molecular Cytogenetics
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: 0301 basic medicine, Chromosome 13 p arm, medicine.medical_specialty, lcsh:QH426-470, Array-CGH, Heterochromatin, Case Report, 030105 genetics & heredity, Biology, Biochemistry, 03 medical and health sciences, FISH, Genetic, Genetics, medicine, Copy number variations, Copy-number variation, Molecular Biology, Genetics (clinical), medicine.diagnostic_test, Copy number variation, Biochemistry (medical), Cytogenetics, Chromosome, Karyotype, Unbalanced translocation, Subtelomere, lcsh:Genetics, 030104 developmental biology, Molecular Medicine, Fluorescence in situ hybridization, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8303b9c73ca3736bf0e406ba3eb9cd4Test
http://hdl.handle.net/10281/216999Test

المؤلفون: Angela Bentivegna, Donatella Conconi

المساهمون: Conconi, D, Bentivegna, A

المصدر: Urothelial Carcinoma ISBN: 9781493972333

مصطلحات موضوعية: 0301 basic medicine, DNA copy number variation, Comparative Genomic Hybridization (array-CGH), Locus (genetics), Biology, Genome, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Formalin-fixed paraffin-embedded (FFPE) specimen, Fresh biopsie, Biopsy, Fluorescence in situ hybridization (FISH), medicine, Urine specimen, medicine.diagnostic_test, Chromosome, UroVysion test, urothelial carcinoma, chromosome aberrations, fluorescence in situ hybridization (FISH), UroVysion test, Comparative Genomic Hybridization (array-CGH), DNA Copy Number Variations, urine specimens, fresh biopsies, formalin fixed paraffin embedded (FFPE) specimens, Molecular biology, 030104 developmental biology, chemistry, 030220 oncology & carcinogenesis, Urothelial carcinoma, Ploidy, Chromosome aberration, DNA, Fluorescence in situ hybridization, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ff75a59848a102202bddd173e631a89Test
http://hdl.handle.net/10281/154801Test

المؤلفون: D. Gambel Benussi, Donatella Conconi, Nicoletta Villa, Vanna Pecile, Gianluca Tornese, Francesca Crosti, Leda Dalprà, Elena Sala

المساهمون: Villa, N, Conconi, D, Benussi, D Gambel, Tornese, G, Crosti, F, Sala, E, Dalprà, L, Pecile, V, Gambel Benussi, D, Dalpra', L

المصدر: Molecular Cytogenetics
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Derivative chromosome, Neocentromere, Marker chromosome, Isochromosome, Case Report, Telomeric-centromeric X rearrangement, Chromosome complex rearrangement, Biology, Biochemistry, 03 medical and health sciences, Genetics, Acentric fragment, Molecular Biology, Genetics (clinical), X chromosome, Chromosomal inversion, Biochemistry (medical), Karyotype, Molecular biology, lcsh:Genetics, 030104 developmental biology, Molecular Medicine

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7595494658d826b47707daf31c5df832Test
https://doi.org/10.1186/s13039-017-0323-7Test

المؤلفون: Leda Dalprà, Donatella Conconi, Patrizia Perego, Giorgio Bovo, Valentina Chiappa, Marialuisa Lavitrano, Rodolfo Milani, Andrea Lissoni, Serena Redaelli

المساهمون: Conconi, D, Chiappa, V, Perego, P, Redaelli, S, Bovo, G, Lavitrano, M, Milani, R, Dalpra', L, Lissoni, A

المصدر: Oncology Reports

مصطلحات موضوعية: Adult, 0301 basic medicine, Leiomyosarcoma, Pathology, medicine.medical_specialty, BCL2, Cancer Research, animal structures, Amplification, Biology, digestive system, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Biomarkers, Tumor, medicine, Humans, In Situ Hybridization, Fluorescence, Smooth Muscle Tumor, Comparative Genomic Hybridization, Leiomyoma, copy number alterations, Oncogene, Cancer, STUMP, Articles, General Medicine, Middle Aged, Copy number alteration, medicine.disease, Molecular medicine, body regions, surgical procedures, operative, 030104 developmental biology, Proto-Oncogene Proteins c-bcl-2, Oncology, 030220 oncology & carcinogenesis, Uterine Neoplasms, Immunohistochemistry, Female, Sarcoma, Neoplasm Recurrence, Local, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef342421662a70c23ce27b9420a1142Test
http://hdl.handle.net/10281/140150Test

المؤلفون: Donatella Conconi, Michela Mangieri, Laura Paoletta, Leda Dalprà, Fabrizio Tagliavini, Elena Panzeri, Maria Giulia Ferretti, Giacomina Rossi, Margherita Ruggerone, Elena Piccoli

المساهمون: Rossi, G, Conconi, D, Panzeri, E, Paoletta, L, Piccoli, E, Ferretti, M, Mangieri, M, Ruggerone, M, Dalpra', L, Tagliavini, F

المصدر: Neurogenetics

مصطلحات موضوعية: medicine.medical_specialty, Tau protein, Gene Dosage, Aneuploidy, Mice, Transgenic, tau Proteins, Biology, medicine.disease_cause, Cellular and Molecular Neuroscience, Cytogenetics, Mice, Chromosome instability, Genetics, medicine, MAPT, Animals, Humans, Genetics(clinical), Lymphocytes, Genetics (clinical), Hemizygote, Mutation, Genome, Neurodegeneration, Homozygote, Chromosome Mapping, Karyotype, medicine.disease, Animal models, Tauopathy, Disease Models, Animal, Gene Expression Regulation, Tauopathies, Karyotyping, biology.protein, Original Article, Tau, Tau, MAPT, Mutation, Tauopathy, Animal, models, Cytogenetics, Aneuploidy, Spleen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0664628697fbef5b0fcb79adf1ea23e4Test
http://europepmc.org/articles/PMC3968519Test

المؤلفون: Serena Redaelli, Elena Sala, Gaia Roversi, Francesca Crosti, Donatella Conconi, Nicoletta Villa

المساهمون: Sala, E, Conconi, D, Crosti, F, Villa, N, Redaelli, S, Roversi, G

المصدر: OBM Genetics. 3:1-1

مصطلحات موضوعية: Pregnancy, Array-CGH, medicine.diagnostic_test, Prenatal diagnosi, Aneuploidy, Karyotype, Prenatal diagnosis, Biology, medicine.disease, Bioinformatics, Prenatal cytogenetics, Interphase FISH, medicine, Fish , Interphase, NIPT, Fluorescence in situ hybridization

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb6688f2d16ea9cd61b29449fce8c62Test
https://doi.org/10.21926/obm.genet.1901063Test

المؤلفون: Laura Paoletta, Elena Piccoli, Serena Redaelli, Elena Panzeri, Donatella Conconi, Fabrizio Tagliavini, Giacomina Rossi, Leda Dalprà

المساهمون: Rossi, G, Conconi, D, Panzeri, E, Redaelli, S, Piccoli, E, Paoletta, L, Dalpra', L, Tagliavini, F

المصدر: Journal of Alzheimer's Disease. 33:969-982

مصطلحات موضوعية: Adult, Male, Genome instability, MED/03 - GENETICA MEDICA, Adolescent, DNA Copy Number Variations, DNA repair, tau Proteins, Biology, medicine.disease_cause, Young Adult, Chromosomal Instability, Chromosome instability, medicine, Humans, Copy-number variation, Child, Gene, Cells, Cultured, Aged, Cell Line, Transformed, Genetics, Mutation, Genome, Human, General Neuroscience, Chromosome, General Medicine, Fibroblasts, Middle Aged, Chromosome aberrations, DNA copy number variations, genome instability, MAPT, mutation, tau protein, tauopathies, Molecular biology, Chromatin, Psychiatry and Mental health, Clinical Psychology, Child, Preschool, Female, Geriatrics and Gerontology

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::165112293f6fc5f09a3670714f3b125aTest
https://doi.org/10.3233/jad-2012-121633Test

المؤلفون: Clotilde Farina, Paola Cianci, Agnese Scatigno, Serena Redaelli, Chiara Fossati, Nicoletta Villa, Angelo Selicorni, Silvia Maitz, Leda Dalprà, Donatella Conconi

المساهمون: Villa, N, Scatigno, A, Redaelli, S, Conconi, D, Cianci, P, Farina, C, Fossati, C, Dalpra', L, Maitz, S, Selicorni, A

المصدر: Molecular Cytogenetics

مصطلحات موضوعية: 0301 basic medicine, Monosomy, medicine.medical_specialty, Array-CGH, 21), Chromosomal translocation, Case Report, Biology, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Genetic, Gene duplication, Genetics, medicine, Genetics(clinical), Molecular Biology, Genetics (clinical), Segmental duplication, Biochemistry, medical, 030219 obstetrics & reproductive medicine, 14q32.3-qter duplication, Translocation (14, Biochemistry (medical), Cytogenetics, Chromosome, medicine.disease, Congenital hypothyroidism, 030104 developmental biology, Molecular Medicine, Trisomy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b009a6fcf38d134650bd49f02ec451fTest
http://hdl.handle.net/10281/140148Test

المؤلفون: Rossi, G, Paoletta, L, Piccoli, E, Ferretti, M, Mangieri, M, Ruggerone, M, Tagliavini, F., CONCONI, DONATELLA, PANZERI, ELENA, DALPRA', LEDA

المساهمون: Rossi, G, Conconi, D, Panzeri, E, Paoletta, L, Piccoli, E, Ferretti, M, Mangieri, M, Ruggerone, M, Dalpra', L, Tagliavini, F

مصطلحات موضوعية: Tau, MAPT, Mutation, Tauopathy, Animal, models, Cytogenetics, Aneuploidy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24218087; info:eu-repo/semantics/altIdentifier/wos/WOS:000333707900005; volume:15; issue:1; firstpage:31; lastpage:40; numberofpages:10; journal:NEUROGENETICS; http://hdl.handle.net/10281/71265Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84897954434

الإتاحة: https://doi.org/10.1007/s10048-013-0380-yTest
http://hdl.handle.net/10281/71265Test