المؤلفون: C. Palmieri, Anna Maria Nardone, Stefania Zampatti, Francesca Gullotta, M.R. Abate, Marina Frontali, Antonio Novelli, Viola Alesi, Marta Bertoli

المصدر: American journal of medical genetics. Part A 161 (2013): 2004–2008. doi:10.1002/ajmg.a.35991
info:cnr-pdr/source/autori:Bertoli M.; Alesi V.; Gullotta F.; Zampatti S.; Abate M.R.; Palmieri C.; Novelli A.; Frontali M.; Nardone A.M./titolo:Another patient with 12q13 microduplication/doi:10.1002%2Fajmg.a.35991/rivista:American journal of medical genetics. Part A/anno:2013/pagina_da:2004/pagina_a:2008/intervallo_pagine:2004–2008/volume:161

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hyperkeratosis, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome 12, Phenocopy, Comparative Genomic Hybridization, Chromosomes, Human, Pair 12, Wolf-Hirschhorn Syndrome, business.industry, medicine.disease, Phenotype, Associated phenotype, Wolf-Hirschhorn syndrome phenocopy, Review Literature as Topic, Homogeneous, Female, 12q13 duplication, Chromosome Deletion, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff38363dcbb49e786551132b837614fTest
https://doi.org/10.1002/ajmg.a.35991Test

المؤلفون: Francesca Gullotta, Paolo Ascenzi, Alessandra di Masi

المساهمون: Gullotta, F, DI MASI, Alessandra, Ascenzi, Paolo

المصدر: IUBMB Life. 64:378-386

مصطلحات موضوعية: Clinical Biochemistry, Poison control, Inflammation, Pharmacology, Lung injury, Biochemistry, Sepsis, Neoplasms, Genetics, Animals, Humans, Medicine, Molecular Biology, Carbon Monoxide, business.industry, Neurodegeneration, Cancer, Lung Injury, Organ Preservation, Cell Biology, medicine.disease, Transplantation, Cardiovascular Diseases, Enzyme Induction, Reperfusion Injury, Heart failure, medicine.symptom, business, Heme Oxygenase-1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0c4bb1121d51a111e59a97d0e720ab4Test
https://doi.org/10.1002/iub.1015Test

المؤلفون: Gabriella Fanali, Francesca Gullotta, Paolo Ascenzi, Alessandro Bolli, Mauro Fasano, Alessandra di Masi

المصدر: FEBS Journal. 278:654-662

مصطلحات موضوعية: biology, Stereochemistry, Allosteric regulation, Serum albumin, Cell Biology, Plasma protein binding, Human serum albumin, Ibuprofen, Biochemistry, chemistry.chemical_compound, Protein structure, chemistry, medicine, biology.protein, Binding site, Molecular Biology, Heme, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c3204cc32e853e0182a82a190eab40e8Test
https://doi.org/10.1111/j.1742-4658.2010.07986.xTest

المؤلفون: Giampiero De Sanctis, Yu Cao, Alessandra di Masi, Gabriella Fanali, Mauro Fasano, Paolo Ascenzi, Francesca Gullotta, Massimo Coletta

المصدر: FEBS Journal. 277:2474-2485

مصطلحات موضوعية: biology, Chemistry, Nitrosylation, Inorganic chemistry, Serum albumin, Cell Biology, Human serum albumin, Biochemistry, Medicinal chemistry, Ferrous, body regions, chemistry.chemical_compound, Reaction rate constant, embryonic structures, medicine, biology.protein, Ferric, Reactivity (chemistry), Molecular Biology, Heme, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8b09386cfd28411f45a634b68e32db06Test
https://doi.org/10.1111/j.1742-4658.2010.07662.xTest

المؤلفون: Anna Maria Nardone, Valeria Guglielmi, Nadir M. Maraldi, Valeria Azzolini, Enrico Grosso, Francesca Gullotta, Paolo Sbraccia, Giuseppe Novelli, Marta Columbaro, Anne Vielle, Maria Rosaria D'Apice, Monica D’Adamo, Giovanna Lattanzi, Francesca Lombardi, Antonio Filareto, Salvatore Masala

المساهمون: Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G.

المصدر: The Journal of Clinical Endocrinology & Metabolism. 92:4467-4471

مصطلحات موضوعية: Fluorescent Antibody Technique, Alleles, Cells, Cultured, Craniofacial Abnormalities, Transfection, Mutation, Female, Phenotype, Heterozygote, Blotting, Western, Fibroblasts, Humans, Microscopy, Electron, Bone Diseases, Developmental, Mutagenesis, Adult, DNA Mutational Analysis, Lipodystrophy, DNA, Complementary, Lamin Type A, Settore MED/09 - Medicina Interna, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Compound heterozygosity, Biochemistry, LMNA, Endocrinology, Complementary, Missense mutation, Developmental, Settore MED/49 - Scienze Tecniche Dietetiche Applicate, Microscopy, Cultured, Blotting, Acroosteolysis, Bone Diseases, medicine.symptom, Western, medicine.medical_specialty, Cells, Context (language use), Biology, Electron, Settore MED/36 - Diagnostica per Immagini e Radioterapia, Internal medicine, medicine, Biochemistry (medical), DNA, medicine.disease, Mandibuloacral dysplasia, Settore MED/03 - Genetica Medica, Dysplasia

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fea6c5bbe58a5c703660879e324c77a6Test
https://doi.org/10.1210/jc.2007-0116Test

المؤلفون: Roberto Massa, Emanuela Bonifazi, Francesca Gullotta, Laura Vallo, Doriana Fruci, Sara Caldarola, Annalisa Botta, Giuseppe Novelli, Fabrizio Loreni

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762(3):329-334

مصطلحات موضوعية: musculoskeletal diseases, Untranslated region, Gene isoform, DM2, Cells, RNA Splicing, Recombinant Fusion Proteins, Molecular Sequence Data, Biology, Myotonic dystrophy, Fluorescence, ZNF9 expression, medicine, RNA Precursors, Humans, Myotonic Dystrophy, Protein Isoforms, Lymphocytes, Gene, Molecular Biology, In Situ Hybridization, Cells, Cultured, In Situ Hybridization, Fluorescence, Genetics, Messenger RNA, Cultured, DNA Repeat Expansion, Base Sequence, CCTG expansion, Settore BIO/11, Phenotype, RNA-Binding Proteins, Introns, Zinc Fingers, Gene Expression Regulation, Mutation, Intron, Splicing isoform, medicine.disease, Molecular biology, RNA splicing, Molecular Medicine, Trinucleotide repeat expansion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac2e1e6088d7ad7c12d0d0a4df8b71eTest

المؤلفون: Laura Vallo, Ercole Brunetti, Anna Maria Nardone, Raniero Iraci, Francesca Gullotta, Emanuela Bonifazi, Giuseppe Novelli, Annalisa Botta

المصدر: Clinical Chemistry. 52:319-322

مصطلحات موضوعية: Pathology, Clinical Biochemistry, medicine.disease_cause, Pregnancy, Prenatal Diagnosis, Myotonic Dystrophy, genetics, gene mutation, In Situ Hybridization, In Situ Hybridization, Fluorescence, Mutation, medicine.diagnostic_test, article, Genetic disorder, methodology, interphase, Protein-Serine-Threonine Kinases, trinucleotide, fetus, diagnostic procedure, Female, Chorionic Villi, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, phenotype, prenatal development, Protein Serine-Threonine Kinases, Biology, Myotonic dystrophy, Fluorescence, Myotonin-Protein Kinase, autosomal dominant disorder, protein serine threonine kinase, medicine, Humans, controlled study, human, fluorescence in situ hybridization, Gene, myotonic dystrophy protein kinase, RNA, cell nucleus, chorion villus, human cell, myotonic dystrophy, prenatal diagnosis, trophoblast, female, metabolism, mutation, pregnancy, Cell Nucleus, Biochemistry (medical), Chromosome, medicine.disease, Myotonia, Settore MED/03 - Genetica Medica, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cacb77ca5d0edda85482f270465c46e5Test
https://doi.org/10.1373/clinchem.2005.056283Test

المؤلفون: STEFANIA NOTARI, CARMINE MANCONE, FRANCESCA GULLOTTA, NAZZARIO BEVILACQUA, MASSIMO TEMPESTILLI, ROCCO URSO, FRANCESCO NICOLA LAURIA, LEOPOLDO PAOLO PUCILLO, MARCO TRIPODI, PAOLO ASCENZI, SERGI, Manuel

المساهمون: Stefania, Notari, Carmine, Mancone, Sergi, Manuel, Francesca, Gullotta, Nazzario, Bevilacqua, Massimo, Tempestilli, Rocco, Urso, FRANCESCO NICOLA, Lauria, LEOPOLDO PAOLO, Pucillo, Marco, Tripodi, Paolo, Ascenzi

وصف الملف: STAMPA

العلاقة: volume:62; firstpage:387; lastpage:393; numberofpages:7; journal:IUBMB LIFE; http://hdl.handle.net/11575/7506Test

الإتاحة: https://doi.org/10.1002/iub.321Test
http://hdl.handle.net/11575/7506Test

المؤلفون: ASCENZI, Paolo, FRANCESCA GULLOTTA, MARCO MATTU, Chiara CIACCIO, Massimo COLETTA, DI MASI, ALESSANDRA

المساهمون: Ascenzi, Paolo, DI MASI, Alessandra, Francesca, Gullotta, Marco, Mattu, Chiara, Ciaccio, Massimo, Coletta

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000275946700003; volume:393; firstpage:196; lastpage:200; numberofpages:5; journal:BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS; http://hdl.handle.net/11590/114458Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77649190692; http://ricerca.uniroma3.it/Reductive-nitrosylation-of-ferric-cyanide-horse-heart-myoglobin-is-limited-by-cyanide-dissociation_p29884.aspxTest

الإتاحة: https://doi.org/10.1016/j.bbrc.2010.01.092Test
http://hdl.handle.net/11590/114458Test
http://ricerca.uniroma3.it/Reductive-nitrosylation-of-ferric-cyanide-horse-heart-myoglobin-is-limited-by-cyanide-dissociation_p29884.aspxTest

المؤلفون: CORLETO, Vito Domenico, DELLE FAVE, Gianfranco, Stefano Gambardella, Francesca Gullotta, Maria R. D'Apice, Matteo Piciucchi, Elena Galli, Vincenzina Lucidi, Giuseppe Novelli

المساهمون: Corleto, Vito Domenico, Stefano, Gambardella, Francesca, Gullotta, Maria R., D'Apice, Matteo, Piciucchi, Elena, Galli, Vincenzina, Lucidi, Giuseppe, Novelli, DELLE FAVE, Gianfranco

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20950468; info:eu-repo/semantics/altIdentifier/wos/WOS:000283790100001; volume:10; issue:1; firstpage:119; numberofpages:4; journal:BMC GASTROENTEROLOGY; http://hdl.handle.net/11573/114462Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77957921193; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000283790100001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-77957921193&partnerID=65&md5=4d9d339b616faa01c41b56e0437c82bdTest

الإتاحة: https://doi.org/10.1186/1471-230x-10-119Test
http://hdl.handle.net/11573/114462Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000283790100001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-77957921193&partnerID=65&md5=4d9d339b616faa01c41b56e0437c82bdTest