يعرض 1 - 10 نتائج من 32 نتيجة بحث عن '"Anna Capalbo"', وقت الاستعلام: 0.94s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

    المؤلفون: Paola Pontecorvi, Laura Bernardini, Anna Capalbo, Simona Ceccarelli, Francesca Megiorni, Enrica Vescarelli, Irene Bottillo, Nicoletta Preziosi, Maria Fabbretti, Giorgia Perniola, Pierluigi Benedetti Panici, Antonio Pizzuti, Paola Grammatico, Cinzia Marchese

    المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2045-2322

    URL الوصول: https://doaj.org/article/e347b9c84de24178941301ab8bedf269

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  2. 2
    دورية أكاديمية
    Altered Expression of Candidate Genes in Mayer–Rokitansky–Küster–Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X

    المؤلفون: Paola Pontecorvi, Francesca Megiorni, Simona Camero, Simona Ceccarelli, Laura Bernardini, Anna Capalbo, Eleni Anastasiadou, Giulia Gerini, Elena Messina, Giorgia Perniola, Pierluigi Benedetti Panici, Paola Grammatico, Antonio Pizzuti, Cinzia Marchese

    المصدر: Biology, Vol 10, Iss 6, p 450 (2021)

    مصطلحات موضوعية: Mayer–Rokitansky–Küster–Hauser syndrome, PRKX, vaginal keratinocyte, gene expression, cell migration, EMT, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2079-7737/10/6/450; https://doaj.org/toc/2079-7737

    URL الوصول: https://doaj.org/article/be66ad08810d442fb432214409cd138f

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  3. 3
    دورية أكاديمية
    Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability

    المؤلفون: Gianmaria Miolo, Laura Bernardini, Anna Capalbo, Anna Favia, Marina Goldoni, Barbara Pivetta, Giovanni Tessitori, Giuseppe Corona

    المصدر: Diagnostics, Vol 10, Iss 12, p 1009 (2020)

    مصطلحات موضوعية: FIRRE gene, intellectual disability, lncRNA, microduplication, chromosomal microarray analysis, Medicine (General), R5-920

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2075-4418/10/12/1009; https://doaj.org/toc/2075-4418

    URL الوصول: https://doaj.org/article/a58b74bd1dc94cb99250a19080b563bc

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  4. 4
    Systemic ALK-negative anaplastic large cell lymphoma with distinctive myxoid change and DUSP22 rearrangement

    المؤلفون: Stefano Fratoni, Malgorzata Monika Trawinska, Anna Capalbo, Laura Bernardini, Maria Fabbretti, Maurizio Martini, Pasquale Niscola, Xiangfeng Frank Zhao

    المصدر: Virchows Archiv : an international journal of pathology.

    مصطلحات موضوعية: Cell Biology, General Medicine, Molecular Biology, Pathology and Forensic Medicine

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb07baea02acf6f30cb34b1b2346595
    https://pubmed.ncbi.nlm.nih.gov/35960371

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  5. 5
    Correction to: Systemic ALK-negative anaplastic large cell lymphoma with distinctive myxoid change and DUSP22 rearrangement

    المؤلفون: Stefano Fratoni, Malgorzata Monika Trawinska, Anna Capalbo, Laura Bernardini, Maria Fabbretti, Maurizio Martini, Pasquale Niscola, Xiangfeng Frank Zhao

    المصدر: Virchows Archiv. 481:815-816

    مصطلحات موضوعية: Cell Biology, General Medicine, Molecular Biology, Pathology and Forensic Medicine

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b49cb9175d513b995df47d2f06020638
    https://doi.org/10.1007/s00428-022-03395-4

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  6. 6
    Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)

    المؤلفون: Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Elena Sala, Francesca Crosti, Valentina Parisi, Anna Maria Nardone, Gianluca Di Giacomo, Antonella Pettinari, Giada Tortora, Annamaria Montaldi, Annapaola Calò, Donatella Saccilotto, Sara Zanchetti, Paola Celli, Silvana Guerneri, Rosamaria Silipigni, Laura Cardarelli, Elisabetta Lippi, Simona Cavani, Michela Malacarne, Rita Genesio, Nicola Beltrami, Maria Carla Pittalis, Laura Desiderio, Mattia Gentile, Romina Ficarella, Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Lorena Miele, Cecilia Corti, Sara Ghezzo, Veronica Bertini, Francesca Cambi, Angelo Valetto, Barbara Facchinetti, Laura Bernardini, Anna Capalbo, Federica Balducci, Elisabetta Pelo, Barbara Minuti, Chiara Pescucci, Costanza Giuliani, Alessandra Renieri, Ilaria Longo, Rossella Tita, Giuseppe Castello, Rosario Casalone, Rossana Righi, Barbara Raso, Alessandro Civolani, Maria Cristina Muzi, Manuela di Natale, Luigia Varriale, Daniela Gasperini, Maria Cristina Nuzzi, Angelo Cellamare, Paola Casieri, Rosa Busuito, Caterina Ceccarini, Carla Cesarano, Orsola Privitera, Daniela Melani, Cristina Menozzi, Cristina Falcinelli, Olga Calabrese, Paola Battaglia, Antonella Tanzariello, Tamara Stampalija, Carmela Ardisia, Paolo Gasparini, Peter Benn, Antonio Novelli

    المساهمون: Grati, Francesca Romana, Bestetti, Ilaria, De Siero, Daria, Malvestiti, Francesca, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Parisi, Valentina, Nardone, Anna Maria, Di Giacomo, Gianluca, Pettinari, Antonella, Tortora, Giada, Montaldi, Annamaria, Calò, Annapaola, Saccilotto, Donatella, Zanchetti, Sara, Celli, Paola, Guerneri, Silvana, Silipigni, Rosamaria, Cardarelli, Laura, Lippi, Elisabetta, Cavani, Simona, Malacarne, Michela, Genesio, Rita, Beltrami, Nicola, Pittalis, Maria Carla, Desiderio, Laura, Gentile, Mattia, Ficarella, Romina, Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Miele, Lorena, Corti, Cecilia, Ghezzo, Sara, Bertini, Veronica, Cambi, Francesca, Valetto, Angelo, Facchinetti, Barbara, Bernardini, Laura, Capalbo, Anna, Balducci, Federica, Pelo, Elisabetta, Minuti, Barbara, Pescucci, Chiara, Giuliani, Costanza, Renieri, Alessandra, Longo, Ilaria, Tita, Rossella, Castello, Giuseppe, Casalone, Rosario, Righi, Rossana, Raso, Barbara, Civolani, Alessandro, Muzi, Maria Cristina, di Natale, Manuela, Varriale, Luigia, Gasperini, Daniela, Nuzzi, Maria Cristina, Cellamare, Angelo, Casieri, Paola, Busuito, Rosa, Ceccarini, Caterina, Cesarano, Carla, Privitera, Orsola, Melani, Daniela, Menozzi, Cristina, Falcinelli, Cristina, Calabrese, Olga, Battaglia, Paola, Tanzariello, Antonella, Stampalija, Tamara, Ardisia, Carmela, Gasparini, Paolo, Benn, Peter, Novelli, Antonio

    مصطلحات موضوعية: cfDNAtesting, Obstetrics and Gynecology, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deddef97ee50604835da23b5f9aa9edb
    https://hdl.handle.net/11368/3035240

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  7. 7
    Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype

    المؤلفون: Stefania Bigoni, Giusy Cavarretta, Anna Capalbo, Sergio Fini, Marianna Farnè, Laura Bernardini, Alessandra Ferlini, Barbara Torres, Mariabeatrice Sanchini

    المصدر: American journal of medical genetics. Part A. 188(2)

    مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Koolen De Vries syndrome, Scoliosis, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Nose, business.industry, Genetic disorder, Nuclear Proteins, medicine.disease, Phenotype, medicine.anatomical_structure, Chromosomal region, Female, Differential diagnosis, Chromosome Deletion, business, Chromosomes, Human, Pair 17

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4715c899dd2ad55a095343c091e0f6aa
    https://pubmed.ncbi.nlm.nih.gov/34665525

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  8. 8
    Altered expression of candidate genes in Mayer–Rokitansky–Küster–Hauser syndrome may influence vaginal keratinocytes biologya. A focus on Protein Kinase X

    المؤلفون: Laura Bernardini, Eleni Anastasiadou, Anna Capalbo, Pierluigi Benedetti Panici, Paola Pontecorvi, Simona Ceccarelli, Elena Messina, Simona Camero, Paola Grammatico, Cinzia Marchese, Giorgia Perniola, Giulia Gerini, Antonio Pizzuti, Francesca Megiorni

    المصدر: Biology
    Volume 10
    Issue 6
    Biology, Vol 10, Iss 450, p 450 (2021)

    مصطلحات موضوعية: Candidate gene, cell migration, QH301-705.5, Morphogenesis, Uterus, Biology, General Biochemistry, Genetics and Molecular Biology, Article, PRKX, Downregulation and upregulation, Mayer–Rokitansky–Küster–Hauser syndrome, medicine, Mayer-Rokitansky-Kuster-Hauser Syndrome, Biology (General), vaginal keratinocyte, Hox gene, Protein kinase A, General Immunology and Microbiology, EMT, emt, gene expression, genital tract development, hox genes, mayer–rokitansky–küster–hauser syndrome, prkx, tissue morphogenesis, HOX genes, medicine.anatomical_structure, Vagina, Cancer research, General Agricultural and Biological Sciences

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69dd9de81b962564244a3df1c201174d
    http://hdl.handle.net/11573/1556834

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  9. 9
    Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability

    المؤلفون: Giovanni Tessitori, Anna Favia, Giuseppe Corona, Anna Capalbo, Gianmaria Miolo, Laura Bernardini, Barbara Pivetta, Marina Goldoni

    المصدر: Diagnostics
    Diagnostics, Vol 10, Iss 1009, p 1009 (2020)

    مصطلحات موضوعية: 0301 basic medicine, Clinical Biochemistry, Case Report, Biology, FIRRE gene, 03 medical and health sciences, Exon, 0302 clinical medicine, lncRNA, Intellectual disability, medicine, Global developmental delay, Gene, Genetics, lcsh:R5-920, microduplication, Chromosome, medicine.disease, Chromatin, 030104 developmental biology, intellectual disability, Chromosomal region, chromosomal microarray analysis, Autism, lcsh:Medicine (General), 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26bbf88a2bf24b2d80c5dfc8ce80bed4
    http://europepmc.org/articles/PMC7760855

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  10. 10
    De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies

    المؤلفون: Anna Capalbo, Mariateresa Falco, Gioacchino Scarano, Laura Bernardini, Maria Grazia Giuffrida, Cinzia Lombardi, Francesca Scarano, Giuseppina Cantalupo, Fortunato Lonardo, Marianna Maioli, Maria Ciavarella, Paolo Fontana

    المصدر: J Pediatr Genet

    مصطلحات موضوعية: Genetics, 0303 health sciences, medicine.diagnostic_test, 030305 genetics & heredity, Cystic hygroma, Biology, medicine.disease, Phenotype, Abdominal wall, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Agenesis, Pediatrics, Perinatology and Child Health, dup, Genotype, medicine, 030217 neurology & neurosurgery, Genetics (clinical), Comparative genomic hybridization, Fluorescence in situ hybridization

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf41051cec3651b3f3b650312b470358
    https://europepmc.org/articles/PMC8416190/

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