المؤلفون: Sara Signa, D. Bleidl, M Acquila, G. Viglizzo, S Viola, Angela Rita Sementa, Elio Castagnola, Francesca Manunza, Maria C Coccia, Angelo Ravelli, Stefano Volpi, Claudia Pastorino, Corrado Occella

المصدر: Journal of the European Academy of Dermatology and Venereology

مصطلحات موضوعية: medicine.medical_specialty, 2019-20 coronavirus outbreak, SARS‐CoV2, Chilblain, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Dermatology, Disease cluster, Letters To The Editor, Serology, Correlation, COVID‐19, Recurrence, Humans, Medicine, skin and connective tissue diseases, Chilblains, SARS-CoV-2, business.industry, COVID-19, SARS-CoV2, Causality, medicine.disease, Letter To The Editor, Reverse transcriptase, Infectious Diseases, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad00b0e265e06400f8bab2b1e69e5264
https://doi.org/10.1111/jdv.17283

المؤلفون: E. Della Valle, Maria Patrizia Bicocchi, M. Acquila, Camillo Rosano, Angelo Claudio Molinari, F. Bottini, Tiziana Lanza, Mirrela Pasino

المصدر: Haemophilia. 12:263-270

مصطلحات موضوعية: DNA Mutational Analysis, Mutation, Missense, Biology, medicine.disease_cause, Hemophilia B, Factor IX, Protein structure, medicine, Animals, Humans, Missense mutation, Coding region, Haemophilia B, Amino Acids, Gene, Genetics (clinical), Genetics, Mutation, Models, Genetic, Molecular pathology, Exons, Hematology, General Medicine, medicine.disease, Amino Acid Substitution, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9dafe2cff2ec5f838bac51aa2f55c6
https://doi.org/10.1111/j.1365-2516.2006.01275.x

المؤلفون: M. Acquila, Mirella Pasino, F. Bottini, Tiziana Lanza, Maria Patrizia Bicocchi, Cristina Santoro, Angelo Claudio Molinari

المصدر: Haemophilia. 9:717-720

مصطلحات موضوعية: Genetics, Haemophilia A, Haplotype, Hematology, General Medicine, Biology, medicine.disease, Germline, genomic DNA, medicine.anatomical_structure, Mutation (genetic algorithm), medicine, Mutation testing, Genetics (clinical), Germ cell, Chromosomal inversion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ab8c804a0804206a0907eeae811730f7
https://doi.org/10.1046/j.1351-8216.2003.00818.x

المؤلفون: Maria Patrizia Bicocchi, Angelo Claudio Molinari, Raymon Vijzelaar, M. Di Duca, M. Acquila, F. Bottini

المصدر: Haemophilia. 15:1346-1348

مصطلحات موضوعية: Genotype, business.industry, Molecular Probe Techniques, Hematology, General Medicine, Gene deletion, Molecular biology, Von willebrand, von Willebrand Factor, Humans, Medicine, Multiplex ligation-dependent probe amplification, business, Nucleic Acid Amplification Techniques, Gene, Gene Deletion, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f244662ba40e749f01d9d13864fceb
https://doi.org/10.1111/j.1365-2516.2009.02078.x

المؤلفون: Mirella Pasino, Angelo Claudio Molinari, M. Acquila, M. Di Duca, F. Bottini, Maria Patrizia Bicocchi

المصدر: Haemophilia. 14:625-627

مصطلحات موضوعية: Genetics, business.industry, Medicine, Hematology, General Medicine, Multiplex ligation-dependent probe amplification, Gene mutation, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b9e911d26ac090262643b8f706910dec
https://doi.org/10.1111/j.1365-2516.2008.01659.x

المؤلفون: Maria Patrizia Bicocchi, R. Santacroce, Donata Belvini, V. Sanna, Angiola Rocino, Isabella Garagiola, S. Frusconi, M. Acquila, Roberta Salviato, G. Tagariello

المصدر: Haemophilia : the official journal of the World Federation of Hemophilia. 19(6)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Heterozygote, Genetic Linkage, Genetic counseling, DNA Mutational Analysis, Chorionic villus sampling, Prenatal diagnosis, Genetic Counseling, Haemophilia, Hemophilia B, White People, Pregnancy, Prenatal Diagnosis, Databases, Genetic, Medicine, Humans, Haemophilia B, Genetics (clinical), Fetus, medicine.diagnostic_test, business.industry, Hematology, General Medicine, DNA, medicine.disease, Italy, Karyotyping, Amniocentesis, Female, Chorionic Villi, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c982657d80c8e1ab76f8b6926439b81
https://pubmed.ncbi.nlm.nih.gov/23809776

المؤلفون: M. Acquila, Caprino D, Mirella Pasino, F. Bottini, Angelo Claudio Molinari, Maria Patrizia Bicocchi, Tiziana Lanza

المصدر: Haemophilia. 10:744-746

مصطلحات موضوعية: Genetics, Factor VIII, business.industry, Haemophilia A, Exons, Hematology, General Medicine, Hemophilia A, medicine.disease, Pedigree, Exon, Italy, Codon, Nonsense, Humans, Medicine, Identification (biology), Frameshift Mutation, business, Polymorphism, Restriction Fragment Length, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93641dd76d41505bf9561b5336a4461b
https://doi.org/10.1111/j.1365-2516.2004.01032.x

المؤلفون: D. P. O'brien, Daniel J. D. Johnson, S. Pemberton, M. Acquila, Egd Tuddenham, P. G. Mori

المصدر: Thrombosis and Haemostasis. 71:428-433

مصطلحات موضوعية: Enzyme substrate complex, Chemistry, Point mutation, Mutant, Wild type, Hematology, Cleavage (embryo), Molecular biology, Serine, Thrombin, Biochemistry, hemic and lymphatic diseases, medicine, Binding site, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0ec17d50ea99378e3b820d7a9dd6b156
https://doi.org/10.1055/s-0038-1642455

المؤلفون: M. Acquila, Maria Patrizia Bicocchi, P G Mori, Mirella Pasino, Tiziana Lanza, F. Bottini

المصدر: Haemophilia. 8:730-732

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, medicine, Mutation testing, Haemophilia B, Hematology, General Medicine, medicine.disease, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e42f28c540427055258464b8993ad9c
https://doi.org/10.1046/j.1365-2516.2002.00657_2.x

المؤلفون: L. Banov, M. Acquila, M. P. Bicocchi, F. Marotta

المصدر: Haemophilia.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, Hematology, General Medicine, business, Factor XI, Genetics (clinical), Molecular analysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1361ac04d27a7e84de4a6ce9c5c4be26
https://doi.org/10.1111/j.1365-2516.2011.02576.x

المؤلفون: F Bottini, D Caprino, A. Valetto, M. Acquila, P G Mori, M P Bicocchi

المصدر: Haemophilia. 7:416-418

مصطلحات موضوعية: Gynecology, Fetus, medicine.medical_specialty, Pregnancy, medicine.diagnostic_test, Pathogenic mutation, Obstetrics, business.industry, Chorionic villus sampling, Prenatal diagnosis, Hematology, General Medicine, medicine.disease, Haemophilia, Hemophilia B, Prenatal Diagnosis, medicine, Humans, Gestation, Female, Haemophilia B, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5751a8a3cd5de40238fc3164e367af9c
https://doi.org/10.1046/j.1365-2516.2001.00514.x

المؤلفون: D Caprino, Maria Patrizia Bicocchi, P G Mori, A. Valetto, M. Acquila, F. Bottini

المصدر: Haemophilia. 7:416-418

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, Haemophilia B, Prenatal diagnosis, Hematology, General Medicine, medicine.disease, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1fe41e9bc0c69a36af9f949a682b8f1b
https://doi.org/10.1111/j.1365-2516.2001.00514.x

المؤلفون: G. Gimelli, N.D. Avent, M. Pecorara, L. Ferrara, K. Inoue, R.L. Eddy, M. Acquila, D. Caprino, Y. Itoh, T. Hori, C. Panarello, B. Dutrillaux, C. MacGeoch, D. Patterson, P.J. Taylor, M.J.A. Tanner, T. Rangel-Figueiredo, M.J. Higgins, N.K. Spurr, M.A. Roberts, V. Natarajan, E. Takahashi, V. Hansson, P.G. Mori, S. Wood, E. Viegas-Péquignot, C.M. Baker, X. Zhu, J.M. Dunn, M. Salminen, L. Galleni, J.S. Simard, L. Iannuzzi, K. Hielscher, J.L. Longmire, D. Bérubé, T. Jahnsen, T. Abe, A. Shiels, C.S. Griffin, R. Stanyon, C.J. Mitchell, H. Adachi, N. Lemieux, D. Ayusawa, A. Becker, F.A. van der Hoeven, K. Ridgwell, G.P. Di Meo, L. Santini, S.K. Mahadevaiah, J.A. Meester, H. Nakazato, N.S-F. Ma, G. Giordano, K. Lundström, T.B. Shows, B.U. Zabel, H. Drabkin, K. Willan, R. Samjaa, K. Zernahle, B.L. Gallie, S. Misawa, P. de Boer, M. Hirsch-Kauffmann, H. Nakagawa, S.F. Lockwood, R. Winqvist, R. Gagné, K. Kashima, L.L. Deaven, R.A. Phillips, J.M.G.M. Schöller, S. Ørstavik, R. Schneider, S.K. Kaneda, M. Laatikainen, A. Tellini, I. Ulmanen, B. Carritt, D. Kieninger, A. Stubbe, T. Seno, E. Schneider-Scherzer, M. Schweiger, U. Mittwoch, G. Contrafatto, U. Walter, A.D. Goddard, J.A. Squire, J.N. Derr, M. Sandberg, J. Inazawa, M. Schertzer

المصدر: Cytogenetic and Genome Research. 59:I-VI

مصطلحات موضوعية: Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d054284e9d171d8caebeb68131715644
https://doi.org/10.1159/000133258

المؤلفون: C. Aguzzi, M. Acquila, M. P. Bicocchi, Piercarla Schinco, E. Beggiato, Alessandra Borchiellini, F. Valeri, A. Valpreda

المصدر: Haemophilia.

مصطلحات موضوعية: Correlation, Genetics, business.industry, Point mutation, Medicine, Severe haemophilia A, Hematology, General Medicine, business, Genetics (clinical), Genotype phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::37fb36bc9fe2dc9d53edd112605441b9
https://doi.org/10.1111/j.1365-2516.2009.02153.x

المؤلفون: M. Acquila, Giuseppe Castaldo, L. Tagliabue, Isabella Garagiola, Roberta Salviato, F. Riccardi, Donata Belvini, Elvira Grandone, A. M. Lombardi, R. Santacroce, B. Minuti, Maurizio Margaglione, S. H. Giacomelli

المساهمون: Santacroce, R., Acquila, M., Belvini, D., Castaldo, Giuseppe, Garagiola, I., Giacomelli, S. H., Lombardi, A. M., Minuti, B., Riccardi, F., Salviato, R., Tagliabue, L., Grandone, E., Margaglione, M., AICE GENETICS STUDY, G. R. O. U. P.

مصطلحات موضوعية: Protein Conformation, Haemophilia A, Nonsense mutation, Mutation, Missense, Gene mutation, Biology, F8 gene mutation, Hemophilia A, medicine.disease_cause, Exon, DHPLC, Genetics, medicine, Missense mutation, Gene, Chromatography, High Pressure Liquid, Genetics (clinical), Sequence Deletion, Mutation, Factor VIII, CSGE, Exons, direct sequencing, medicine.disease, Null allele, Molecular biology, Alternative Splicing, Italy

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b938ddfe2b1f64651b2b48e14ff9d1
http://hdl.handle.net/11588/343101

المؤلفون: M, Acquila, M, Pasino, C, Santoro, T, Lanza, A C, Molinari, F, Bottini, M P, Bicocchi

مصطلحات موضوعية: Gene Rearrangement, Male, Factor VIII, Chromosome Inversion, Female, Germ-Line Mutation, Hemophilia A, Humans, Introns, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::89560970147b362a7ed45ced8caeb4bc
http://hdl.handle.net/11573/986878

المؤلفون: P.G., Mori, M., Acquila, M.P., Bicocchi, F., Bottini, L., Romano

المصدر: European Journal of Haematology ; volume 65, issue 1, page 82-83 ; ISSN 0902-4441 1600-0609

الاتاحة: http://dx.doi.org/10.1034/j.1600-0609.2000.9l197.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1600-0609.2000.9l197.x
https://onlinelibrary.wiley.com/doi/pdf/10.1034/j.1600-0609.2000.9l197.x

المؤلفون: M. Acquila, D. Caprino, P G Mori

المصدر: Annals of hematology. 67(6)

مصطلحات موضوعية: Male, Molecular Sequence Data, Genetic Carrier Screening, Chorionic villus sampling, Prenatal diagnosis, Genetic Counseling, Biology, Hemophilia B, Polymerase Chain Reaction, law.invention, Factor IX, Exon, law, Polymorphism (computer science), Pregnancy, Prenatal Diagnosis, medicine, Humans, Point Mutation, Deoxyribonucleases, Type II Site-Specific, Polymerase chain reaction, DNA Primers, Genetics, Fetus, medicine.diagnostic_test, Base Sequence, Nucleic Acid Heteroduplexes, Hematology, General Medicine, DNA, Exons, Molecular biology, Introns, Pedigree, Chorionic Villi Sampling, Italy, Female, Polymorphism, Restriction Fragment Length, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f9f0e27f68ac00d0f6845f3e6c46ad
https://pubmed.ncbi.nlm.nih.gov/7904186

المؤلفون: A, Krepelová, Z, Vorlová, M, Acquila, P, Mori

المصدر: British journal of haematology. 81(3)

مصطلحات موضوعية: Czechoslovakia, Factor VIII, Base Sequence, Glutamates, Lysine, Glutamic Acid, Humans, Amino Acid Sequence, DNA, Arginine, Hemophilia A, Polymerase Chain Reaction, White People

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::af684c3691ee3dabbe92ae5ddde77083
https://pubmed.ncbi.nlm.nih.gov/1356412

المؤلفون: M. Acquila, P G Mori, F Bottini, S Odino, M P Bicocchi, A. Valetto

المصدر: European Journal of Haematology. 65:80-81

مصطلحات موضوعية: medicine.medical_specialty, Pregnancy, Obstetrics, business.industry, Genetic variation, medicine, Heterozygote advantage, Hematology, General Medicine, medicine.disease, business, Allele frequency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d3570f27c92b3c432f7dcd1542403c2b
https://doi.org/10.1034/j.1600-0609.2000.9l140.x