المؤلفون: Mirella Filocamo, Rosella Tomanin, Francesca Bertola, Amelia Morrone

المصدر: Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 35-45 (2018)

مصطلحات موضوعية: Laboratory tests, Mucopolysaccharides, Glycosaminoglycans, Molecular analysis, Pseudodeficiency, Genetic counselling, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13052-018-0553-2; https://doaj.org/toc/1824-7288

URL الوصول: https://doaj.org/article/5039a696bad7411ab0704d34085eee72

المؤلفون: Rossella Parini, Francesca Bertola, Pierluigi Russo

المصدر: Cardiogenetics, Vol 3, Iss 1S, Pp e2-e2 (2013)

مصطلحات موضوعية: mucopolysaccharidoses (MPS), heart, heart and MPS, genetics and MPS., Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.pagepressjournals.org/index.php/cardiogen/article/view/643; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

URL الوصول: https://doaj.org/article/e1952f212785428eb22463f658a3a6fa

المؤلفون: Sara Pelucchi, Raffaella Mariani, Stefano Calza, Anna Ludovica Fracanzani, Giulia Litta Modignani, Francesca Bertola, Fabiana Busti, Paola Trombini, Mirella Fraquelli, Gian Luca Forni, Domenico Girelli, Silvia Fargion, Claudia Specchia, Alberto Piperno

المصدر: Haematologica, Vol 97, Iss 12 (2012)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/6496; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/975f35a829544891a05528ca91464385

المؤلفون: Matteo Marcatili, Riccardo Borgonovo, Noemi Cimminiello, Ranieri Domenico Cornaggia, Giulia Casati, Cristian Pellicioli, Laura Maggioni, Federico Motta, Chiara Redaelli, Luisa Ledda, Federico Emanuele Pozzi, Michaela Krivosova, Jessica Pagano, Roberto Nava, Fabrizia Colmegna, Antonios Dakanalis, Alice Caldiroli, Enrico Capuzzi, Beatrice Benatti, Bernardo Dell’Osso, Francesca Bertola, Nicoletta Villa, Alberto Piperno, Silvia Ippolito, Ildebrando Appollonio, Carlo Sala, Luciano Conti, Massimo Clerici

المصدر: Journal of Personalized Medicine; Volume 12; Issue 9; Pages: 1524

مصطلحات موضوعية: treatment resistant depression (TRD), difficult to treat depression (DTD), minocycline, esketamine, ketamine, pharmacogenetics, major depressive disorder (MDD)

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/jpm12091524

الاتاحة: https://doi.org/10.3390/jpm12091524

المؤلفون: Giulia Ravasi, Sara Pelucchi, Francesca Bertola, Martina Maria Capelletti, Raffaella Mariani, Alberto Piperno

المصدر: Genes; Volume 12; Issue 11; Pages: 1778

مصطلحات موضوعية: ferroportin, transferrin receptor 2, hepcidin, hemojuvelin, next generation sequencing, hemochromatosis, ferritin, iron overload

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12111778

الاتاحة: https://doi.org/10.3390/genes12111778

المؤلفون: Matteo, Marcatili, Cristian, Pellicioli, Laura, Maggioni, Federico, Motta, Chiara, Redaelli, Lorenzo, Ghelfi, Michaela, Krivosova, Sibilla, Matteo, Roberto, Nava, Fabrizia, Colmegna, Antonios, Dakanalis, Alice, Caldiroli, Enrico, Capuzzi, Beatrice, Benatti, Francesca, Bertola, Nicoletta, Villa, Alberto, Piperno, Silvia, Ippolito, Massimo, Clerici

المساهمون: Fondazione Cariplo

المصدر: Annals of General Psychiatry ; volume 20, issue 1 ; ISSN 1744-859X

الاتاحة: http://dx.doi.org/10.1186/s12991-021-00365-z
https://link.springer.com/content/pdf/10.1186/s12991-021-00365-z.pdf
https://link.springer.com/article/10.1186/s12991-021-00365-z/fulltext.html

المؤلفون: Edoardo Monfrini, Sara Pelucchi, Maija Hollmen, Miro Viitala, Raffaella Mariani, Francesca Bertola, Silvia Majore, Alessio Di Fonzo, Alberto Piperno

المساهمون: E. Monfrini, S. Pelucchi, M. Hollmen, M. Viitala, R. Mariani, F. Bertola, S. Majore, A. Di Fonzo, A. Piperno

مصطلحات موضوعية: stabilin-1, ferritin, hyperferritinemia, iron, genetics, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001052697200001; volume:110; issue:8; firstpage:1436; lastpage:1443; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/2434/1046368; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85166354344

الاتاحة: https://hdl.handle.net/2434/1046368
https://doi.org/10.1016/j.ajhg.2023.07.004

المؤلفون: Edoardo Monfrini, Sara Pelucchi, Maija Hollmén, Miro Viitala, Raffaella Mariani, Francesca Bertola, Silvia Majore, Alessio Di Fonzo, Alberto Piperno

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2d719d5e1fc51d8cdc11978830cd97f7
https://doi.org/10.1101/2022.11.24.22282670

المؤلفون: Alberto Piperno, Martina Maria Capelletti, Francesca Bertola, Giulia Ravasi, Sara Pelucchi, Raffaella Mariani

المساهمون: Ravasi, G, Pelucchi, S, Bertola, F, Capelletti, M, Mariani, R, Piperno, A

المصدر: Genes
Genes, Vol 12, Iss 1778, p 1778 (2021)
Volume 12
Issue 11

مصطلحات موضوعية: Adult, Male, Iron metabolism disorder, Hemochromatosi, In silico, Computational biology, Biology, QH426-470, GPI-Linked Proteins, DNA sequencing, Article, hemochromatosis, Tertiary Care Centers, Young Adult, Hepcidins, Receptors, Transferrin, medicine, Genetics, Humans, iron overload, Child, Hemochromatosis Protein, Cation Transport Proteins, Genetics (clinical), Hemochromatosis, Hemojuvelin, ferroportin, next generation sequencing, transferrin receptor 2, ferritin, hemojuvelin, High-Throughput Nucleotide Sequencing, Ion semiconductor sequencing, Sequence Analysis, DNA, Middle Aged, medicine.disease, Mutation (genetic algorithm), Mutation, Female, Gene-Environment Interaction, HAMP, Hyperferritinemia, hepcidin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d66abd8c147de93f41055a3e0065d5
https://pubmed.ncbi.nlm.nih.gov/34828384

المؤلفون: Francesca Bertola, Mirella Filocamo, Rosella Tomanin, Amelia Morrone

المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 35-45 (2018)

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Hydrolases, Genetic counseling, Mucopolysaccharides, Lysosomal storage disorders, Signs and symptoms, Review, Bioinformatics, 03 medical and health sciences, Medicine, Disease biomarker, Humans, Pseudodeficiency, Genetic counselling, Genotype-phenotype relationship, Glycosaminoglycans, Laboratory tests, Molecular analysis, Child, Maternal and child health, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, General Medicine, Mucopolysaccharidoses, 030104 developmental biology, Pseudodeficiency alleles, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a164098bb790283e874c426c37c4fd41
https://pubmed.ncbi.nlm.nih.gov/30442161

المؤلفون: Lucia Santoro, Rita Barone, Laura Rigon, Angelica Rampazzo, Susanna Lualdi, Francesca Bertola, Nicola Volpi, Rosella Tomanin, Alessandra Zanetti, Daniela Concolino, Francesca D’Avanzo, Maurizio Scarpa

المصدر: European journal of pediatrics. 178(5)

مصطلحات موضوعية: Proband, Male, Genotype-phenotype correlation, Pediatrics, Mucopolysaccharidosis, Genetic analysis, 0302 clinical medicine, ACMG classification, Genetics analyses, Lysosomal storage disorders, Mucopolysaccharidoses, Adolescent, Adult, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Counseling, Genetic Markers, Humans, Infant, Italy, Mutation, Missense, Young Adult, Genetic Testing, Molecular Diagnostic Techniques, Pediatrics, Perinatology and Child Health, Missense mutation, 030212 general & internal medicine, education.field_of_study, medicine.diagnostic_test, Perinatology and Child Health, Medical genetics, medicine.medical_specialty, Genetic counseling, Population, 03 medical and health sciences, 030225 pediatrics, medicine, Preschool, education, Genetic testing, business.industry, medicine.disease, Mutation, Missense, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502993ebbbfb8441625e7653b64364db
https://pubmed.ncbi.nlm.nih.gov/30809705

المؤلفون: Francesca Bertola, Carlo Ferrarese, Isella, Ildebrando Appollonio, Lucio Tremolizzo, E Susani, C Mapelli

المساهمون: Tremolizzo, L, Susani, E, Mapelli, C, Isella, V, Bertola, F, Ferrarese, C, Appollonio, I

المصدر: Alzheimer Disease & Associated Disorders. 29:249-251

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, MED/03 - GENETICA MEDICA, posterior cortical atrophy, presenilin 2, Text mining, Alzheimer Disease, Presenilin-2, PSEN2, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, MED/26 - NEUROLOGIA, business.industry, Posterior cortical atrophy, Neurodegenerative Diseases, Middle Aged, Pedigree, Psychiatry and Mental health, Clinical Psychology, Mutation, Mutation (genetic algorithm), Atrophy, Geriatrics and Gerontology, business, Gerontology, M239I PSEN2 mutation

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d699e2730436230493d33a40df0483b
https://doi.org/10.1097/wad.0000000000000052

المؤلفون: Mirella Filocamo, Francesca Bertola, Maria Gnarra, Federica Giurdanella, Claudio Feliciani, Daniela Antuzzi, Susanna Lualdi, Luca Fania, Anna Zampetti, Amelia Morrone

المصدر: Clinical Genetics. 84:281-285

مصطلحات موضوعية: Genetics, Proband, Pediatrics, medicine.medical_specialty, Mutation, business.industry, Incidence (epidemiology), Lysosomal storage disorders, Missed diagnosis, medicine.disease, medicine.disease_cause, Fabry disease, Fucosidosis, Mucopolysaccharidosis I, medicine, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::562e38dfbf36113aa027eaad3ebfeac1
https://doi.org/10.1111/cge.12071

المؤلفون: Francesca Gatto, Daniela Redaelli, Agnese Salvade, Simona Marzorati, Chiara Ferina, Valerie D. Roobrouck, Francesca Bertola, Guglielmo Villani, Laura Antolini, Attilio Rovelli, Catherine M. Verfaillie, Andrea Biondi, Marta Serafini, SACCHETTI, Benedetto, ROMANO, MICHELA, RIMINUCCI, MARA, BIANCO, Paolo

المساهمون: Francesca, Gatto, Daniela, Redaelli, Agnese, Salvade, Simona, Marzorati, Sacchetti, Benedetto, Chiara, Ferina, Valerie D., Roobrouck, Francesca, Bertola, Romano, Michela, Guglielmo, Villani, Laura, Antolini, Attilio, Rovelli, Catherine M., Verfaillie, Andrea, Biondi, Riminucci, Mara, Bianco, Paolo, Marta, Serafini

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/22280094; info:eu-repo/semantics/altIdentifier/wos/WOS:000305049200010; volume:21; issue:9; firstpage:1466; lastpage:1477; numberofpages:12; journal:STEM CELLS AND DEVELOPMENT; http://hdl.handle.net/11573/436817; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84862200951; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000305049200010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-84862200951&partnerID=65&md5=93f43d31d30da616ba340deb82434d22

الاتاحة: http://hdl.handle.net/11573/436817
https://doi.org/10.1089/scd.2011.0555
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000305049200010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-84862200951&partnerID=65&md5=93f43d31d30da616ba340deb82434d22

المؤلفون: Lucio Tremolizzo, Francesca Bertola, Ildebrando Appollonio, Alberto Piperno, Giorgio Casati, Carlo Ferrarese

المصدر: Movement Disorders. 26:1964-1966

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, medicine.disease, Phenotype, Progressive supranuclear palsy, Neurology, Supranuclear palsy, Mutation (genetic algorithm), medicine, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e7aa731f4cb863c50b8ea6fae3bc9b65
https://doi.org/10.1002/mds.23749

المؤلفون: Laura Papetti, Fabiana Ursitti, Francesco Nicita, Francesca Bertola, Claudia Vecchi, Vincenza Patrizia Di Marino, Fiorenza Ulgiati, Eleonora Lovardi, Alberto Spalice

مصطلحات موضوعية: Genetics, Child, Female, Humans, Infant, Mutation, Receptors, Glycine, Siblings, Stiff-Person Syndrome, Neurology (clinical), Pediatrics, Perinatology and Child Health, Developmental Neuroscience, Neurology, Medicine (all), Biology, medicine.disease, Mutation (genetic algorithm), medicine, Hyperekplexia, medicine.symptom, Glycine receptor, Gene, Stiff person syndrome, G alpha subunit

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e7612562649382c22438e90e221d21
http://hdl.handle.net/11573/1022718

المؤلفون: Enrico Saracchi, Stefano Goldwurm, Silvia Fermi, Chiara Riva, Carlo Ferrarese, Laura Brighina, Francesca Bertola

المساهمون: Brighina, L, Riva, C, Bertola, F, Saracchi, E, Fermi, S, Goldwurm, S, Ferrarese, C

المصدر: Neurobiology of Aging

مصطلحات موضوعية: Adult, Male, Aging, medicine.medical_specialty, Parkinson's disease, Vesicular Monoamine Transport Proteins, Neuroscience(all), Clinical Neurology, SNP, Single-nucleotide polymorphism, Genetic Reports Abstract, Vesicular monoamine transporter 2, Polymorphism, Single Nucleotide, Cohort Studies, Association, Dopamine, Internal medicine, Genetic model, medicine, Humans, Parkinson's disease, VMAT2, Aged, Aged, 80 and over, Genetics, biology, General Neuroscience, Dopaminergic, Parkinson Disease, Middle Aged, medicine.disease, Vesicular monoamine transporter, Ageing, Endocrinology, biology.protein, Parkinson’s disease, Female, Neurology (clinical), Geriatrics and Gerontology, Developmental Biology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9b9f4aed067e6ffa353069d5e04461
http://hdl.handle.net/10281/44141

المؤلفون: Simona Baronchelli, Nicoletta Villa, Serena Redaelli, Sara Lissoni, Fabiana Saccheri, Elena Panzeri, Donatella Conconi, Angela Bentivegna, Francesca Crosti, Elena Sala, Francesca Bertola, Anna Marozzi, Antonio Pedicini, Marialuisa Ventruto, Maria Adalgisa Police, Leda Dalprà

المساهمون: Baronchelli, S, Villa, N, Redaelli, S, Lissoni, S, Saccheri, F, Panzeri, E, Conconi, D, Bentivegna, A, Crosti, F, Sala, E, Bertola, F, Marozzi, A, Pedicini, A, Ventruto, M, Police, M, Dalpra', L

المصدر: Molecular Cytogenetics
Molecular Cytogenetics, Vol 5, Iss 1, p 32 (2012)

مصطلحات موضوعية: medicine.medical_specialty, X chromosome structural aberrations, lcsh:QH426-470, MED/03 - GENETICA MEDICA, Chromosomal translocation, Locus (genetics), Biology, Biochemistry, Molecular cytogenetics, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Genetics(clinical), Premature ovarian failure, Molecular Biology, Genetics (clinical), X chromosome, 030304 developmental biology, Biochemistry, medical, 0303 health sciences, 030219 obstetrics & reproductive medicine, Autosome, Research, Breakpoint definition, Biochemistry (medical), Breakpoint, Cytogenetics, Karyotype, lcsh:Genetics, Molecular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb864d07ea1aa862ac67354c6b5b9775
https://doi.org/10.1186/1755-8166-5-32

المؤلفون: Daniela Redaelli, Marta Serafini, Francesca Gatto, Guglielmo R. D. Villani, Attilio Rovelli, Mara Riminucci, M. Romano, Paolo Bianco, Laura Antolini, Agnese Salvadè, Andrea Biondi, Chiara Ferina, Francesca Bertola, Benedetto Sacchetti, Simona Marzorati, Valerie D. Roobrouck, Catherine M. Verfaillie

المساهمون: F., Gatto, D., Redaelli, A., Salvadè, S., Marzorati, B., Sacchetti, C., Ferina, V. D., Roobrouck, F., Bertola, M., Romano, Villani, GUGLIELMO ROSARIO DOMENI, L., Antolini, A., Rovelli, C. M., Verfaillie, A., Biondi, M., Riminucci, P., Bianco, Marta, Serafini, Gatto, F, Redaelli, D, Salvadè, A, Marzorati, S, Sacchetti, B, Ferina, C, Roobrouck, V, Bertola, F, Romano, M, Villani, G, Antolini, L, Rovelli, A, Verfaillie, C, Biondi, A, Riminucci, M, Bianco, P, Serafini, M

المصدر: Stem cells and development. 21(9)

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Stromal cell, Mucopolysaccharidosis I, Osteoclasts, Bone Marrow Cells, Biology, Mucopolysaccharidosis type I, Iduronidase, Osteoclast, BM stromal cell, Internal medicine, medicine, Adipocytes, Humans, skin and connective tissue diseases, Hurler syndrome, Child, Hurler disease, osteoclastogenesis, Osteoblasts, Receptor Activator of Nuclear Factor-kappa B, Mesenchymal stem cell, RANK Ligand, nutritional and metabolic diseases, Infant, Cell Differentiation, Cell Biology, Hematology, medicine.disease, medicine.anatomical_structure, Endocrinology, Female, Bone marrow, Stromal Cells, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8778b067f3014b594e15ced6d71a52
https://pubmed.ncbi.nlm.nih.gov/22280094

المؤلفون: Marina Marino, Chiara Viviani Anselmi, Francesca Cesana, Anna Maria Di Blasio, Bruno Trimarco, L. Boffi, Valentina Trimarco, Stefano Nava, Francesca Bertola, Roberta Roncarati, Cristina Giannattasio, Giuseppe Mancia, Cristina Menni, Guido Grassi

المساهمون: Menni, C, Boffi, L, Cesana, F, Viviani Anselmi, C, Nava, S, Bertola, F, Blasio, A, Roncarati, R, Trimarco, V, Marino, M, Trimarco, B, Grassi, G, Giannattasio, C, Mancia, G, Di Blasio A., M, Trimarco, Valentina, Trimarco, Bruno, Mancia, G.

المصدر: Journal of Hypertension; Vol 30

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Physiology, Cell Cycle Proteins, Chromosome 9, Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Internal medicine, Internal Medicine, medicine, Humans, SNP, Allele, Alleles, Genetic Association Studies, Aged, 030304 developmental biology, Genetics, 0303 health sciences, business.industry, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, Middle Aged, Prognosis, Introns, 3. Good health, Minor allele frequency, Blood pressure, Italy, left ventricular ma, Chromosomal region, Hypertension, Disease Progression, Cardiology, Female, Hypertrophy, Left Ventricular, Chromosomes, Human, Pair 9, Cardiology and Cardiovascular Medicine, business

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dfb149d91f75851b0184b1da1771150
http://hdl.handle.net/10281/46369