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المؤلفون: Alessandro Pecci, Giorgia Girotto, Daniela De Rocco, Paula G. Heller, Annalisa Pastore, Ana C. Glembotsky, Felisa C. Molinas, Rosana F. Marta, Anna Savoia, Valeria Bozzi
المساهمون: DE ROCCO, Daniela, Heller, Pg, Girotto, Giorgia, Pastore, A, Glembotsky, Ac, Marta, Rf, Bozzi, V, Pecci, A, Molinas, Fc, Savoia, Anna, de Rocco, D., Heller, P. G., Girotto, G., Pastore, Annalisa, Glembotsky, A. C., Marta, R. F., Bozzi, V., Pecci, Alessandro, Molinas, F. C., Savoia, A.
المصدر: Platelets. 20:598-602
مصطلحات موضوعية: Adult, Male, Models, Molecular, CIENCIAS MÉDICAS Y DE LA SALUD, neutrophil aggregate, DNA Mutational Analysis, Molecular Sequence Data, MYH9 gene, Mutation, Missense, Disease, MYH9-related disease, Malattia MYH9 associata, Biology, Inclusion bodies, mutational screening, Myosin, macrothrombocytopenia, medicine, Animals, Humans, Missense mutation, Amino Acid Sequence, Gene, Genetics, Aspartic Acid, Alanine, Base Sequence, Myosin Heavy Chains, Molecular Motor Proteins, Hematology, General Medicine, Bioquímica y Biología Molecular, medicine.disease, Pedigree, Protein Structure, Tertiary, Medicina Básica, Mutation (genetic algorithm), Immunology, Female, Sequence Alignment, Nephritis, Kidney disease
وصف الملف: STAMPA; application/pdf
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المؤلفون: Pecci, A, Klersy, C, Gresele, P, Lee, K, De Rocco, D, Bozzi, V, Russo, G, Heller, Pg, Loffredo, G, Ballmaier, M, Fabris, F, Beggiato, E, Kahr, Wha, Pujol-Moix, N, Platokouki, H, Matthijs, G, Noris, P, Yerram, P, Hermans, C, Batzios, S, De Groot, M, Zieger, B, De Candia, E, Fraticelli, V, Kersseboom, R, Piccoli, Gb, Zimmermann, S, Zaninetti, C, Nicchia, E, Baronci, C, Seri, M, Knight, Pj, Balduini, Cl, Savoia, A, Van Geet, C, Geber, B, Economou, M, Fierro, T, Glembotsky, Ac, Vianello, F, Guthner, C.
المساهمون: Pecci, A, Klersy, C, Gresele, P, Lee, Kj, De Rocco, D, Bozzi, V, Russo, G, Heller, Pg, Loffredo, G, Ballmaier, M, Fabris, F, Beggiato, E, Kahr, Wh, Pujol-Moix, N, Platokouki, H, Van Geet, C, Noris, P, Yerram, P, Hermans, C, Gerber, B, Economou, M, De Groot, M, Zieger, B, De Candia, E, Fraticelli, V, Kersseboom, R, Piccoli, Gb, Zimmermann, S, Fierro, T, Glembotsky, Ac, Vianello, F, Zaninetti, C, Nicchia, E, Güthner, C, Baronci, C, Seri, M, Knight, Pj, Balduini, Cl, Savoia, A., DE ROCCO, Daniela, Pujol Moix, N, Nicchia, Elena, Savoia, Anna, University of Zurich
المصدر: Human Mutation, 35(2), 236-247. Wiley
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: Male, Oncology, thrombocytopenia, Medicina Clínica, Disease, Malattia MYH9 associata, Myh9 related disease, MYH9 RELATED DISEASE, Myh9, MYH9, Risk Factors, purl.org/becyt/ford/3.2 [https], Genotype, Genetics(clinical), CRYSTAL-STRUCTURE, Age of Onset, IIA, Genetics (clinical), deafne, MYOSIN HEAVY-CHAIN, EPSTEIN-SYNDROME, Molecular Motor Proteins, FECHTNER SYNDROMES, Trombocitopenia, Penetrance, POWER STROKE STATE, Phenotype, Italy, nephropathy, Female, purl.org/becyt/ford/3 [https], Miosina No Muscular Iia, Adult, 2716 Genetics (clinical), medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, MOTOR DOMAIN, Hearing Loss, Sensorineural, Genetic counseling, 610 Medicine & health, Biology, nonmuscle myosin, Article, Cataract, Nephropathy, 1311 Genetics, Internal medicine, deafness, Genetics, medicine, Humans, Hematología, Gene, Genetic Association Studies, Hereditaria, Myosin Heavy Chains, MUTATIONS, Settore MED/09 - MEDICINA INTERNA, medicine.disease, Amino Acid Substitution, Epstein Syndrome, Mutation, 10032 Clinic for Oncology and Hematology, Linear Models, SMOOTH-MUSCLE MYOSIN
وصف الملف: STAMPA; application/pdf
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المؤلفون: Tiziana Fierro, Anna Maria Mezzasoma, Alessandro Pecci, Daniela De Rocco, Paolo Gresele, Loredana Bury, Anna Savoia
المساهمون: P., Gresele, DE ROCCO, Daniela, L., Bury, T., Fierro, A. M., Mezzasoma, A., Pecci, Savoia, Anna
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, business.industry, Vascular biology, Hematology, Disease, 030204 cardiovascular system & hematology, Malattia MYH9 associata, Myh9 related disease, Phenotype, Genotype phenotype, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Genotype, Medicine, Base sequence, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f49aefe76e754e15c4e9e90c9457b037
https://hdl.handle.net/11368/2714894 -
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المؤلفون: Daniela De Rocco, Alessandro Pecci, Helen Pergantou, Annalisa Pastore, Barbara Zieger, Patrizia Noris, Roberta Bottega, Anna Savoia, Helen Platokouki, Paula G. Heller, Serena Barozzi, Ana C. Glembotsky, Carlo L. Balduini
المساهمون: DE ROCCO, Daniela, Zieger, B., Platokouki, H., Heller, P. G., Pastore, A., Bottega, Roberta, Noris, P., Barozzi, S., Glembotsky, A. C., Pergantou, H., Balduini, C. L., Savoia, Anna, Pecci, A., De Rocco, D., Bottega, R., Glembotsky, A., Balduini, C., Savoia, A.
المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
European Journal of Medical Genetics
Europe PubMed Centralمصطلحات موضوعية: Male, Models, Molecular, Genotype-phenotype correlation, Protein Conformation, Medicina Clínica, MYH9-related disease, Malattia MYH9 associata, medicine.disease_cause, Inclusion bodies, MYH9 related disease, Mutational screening, Exon, purl.org/becyt/ford/3.2 [https], Myosin, Missense mutation, Child, Genetics (clinical), Genes, Dominant, Genetics, Mutation, Genotype–phenotype correlation, Molecular Motor Proteins, Exons, Syndrome, General Medicine, Middle Aged, Phenotype, Pedigree, In frame deletion/duplication, Child, Preschool, Female, purl.org/becyt/ford/3 [https], Adult, CIENCIAS MÉDICAS Y DE LA SALUD, Adolescent, Molecular Sequence Data, MYH9 gene, Settore BIO/11 - Biologia Molecolare, Biology, Nephropathy, Young Adult, Clinical Research, in frame deletions/insertions, medicine, Humans, Hematología, Amino Acid Sequence, Gene, Genetic Association Studies, Base Sequence, Myosin Heavy Chains, medicine.disease, Thrombocytopenia, Molecular biology, Amino Acid Substitution, Sequence Alignment
وصف الملف: application/pdf; STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91aaae426f59539cd41d5d9746724c2c
http://www.sciencedirect.com/science/article/pii/S176972121200287X -
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المؤلفون: Alessandro Pecci, Carlo L. Balduini, Anna Savoia
المساهمون: Balduini, C. L., Pecci, A., Savoia, Anna
مصطلحات موضوعية: piastrinopenia ereditaria, medicine.medical_specialty, Genotype, Disease, Malattia MYH9 associata, Mice, Megakaryocyte, Cataracts, Internal medicine, medicine, Coagulopathy, Animals, Humans, Genetic Predisposition to Disease, Thrombopoietin, gene MYH9, Myosin Type II, Hematology, Myosin Heavy Chains, business.industry, Molecular Motor Proteins, miosina non muscolare IIA, medicine.disease, Thrombocytopenia, Disease Models, Animal, Phenotype, medicine.anatomical_structure, Epstein Syndrome, Mutation, Immunology, May–Hegglin anomaly, business
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fafa4da6eb67d97b344fda76f67bf69f
http://hdl.handle.net/11368/2335044 -
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المؤلفون: Christian P. Kratz, Matthias Ballmaier, Bettina Rath, Michaela Kuhlen, Klaus-Peter Steuhl, Daniela De Rocco, Anna Savoia, Cornelia Wermes, Bettina Henschel, Manuela Germeshausen
مصطلحات موضوعية: Adult, DNA Mutational Analysis, Medizin, piastrinopenia, Chromosome Disorders, Myh9 related disease, German, Young Adult, Germany, Medicine, Humans, Molecular Motor Proteins, Child, gene MYH9, Aged, Genetics, Myosin Heavy Chains, business.industry, Infant, Hematology, General Medicine, language.human_language, Mutation (genetic algorithm), Mutation, language, Malattia MYH9 associata (MYH9RD), business, Novel mutation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82c93f4e9b38fea873aef70944a45ee6
http://hdl.handle.net/11562/1064424 -
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المؤلفون: Fabrizio Fabris, Bernhard Gerber, Alessandro Pecci, Daniela De Rocco, Silvia Vettore, Carlo L. Balduini, Anna Monica Bianco, Raffaella Scandellari, Anna Savoia
المساهمون: Vettore, S., DE ROCCO, Daniela, Gerber, B., Scandellari, R., Bianco, ANNA MONICA ROSARIA, Balduini, C. L., Pecci, A., Fabris, F., Savoia, Anna
مصطلحات موضوعية: Adult, Blood Platelets, Adolescent, Neutrophils, RNA Splicing, Malattia MYH9 associata, piastrinopenia congenita, gene MYH9, Mutation, Missense, Biology, medicine.disease_cause, Exon, Genetics, medicine, Humans, Missense mutation, Transversion, Gene, Genetics (clinical), Inclusion Bodies, Mutation, Myosin Heavy Chains, Nucleotides, Molecular Motor Proteins, Nonmuscle Myosin Type IIA, Computational Biology, RNA, Exons, General Medicine, Thrombocytopenia, Molecular biology, RNA splicing, Kidney Failure, Chronic, Female, Minigene
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d229f17f4e7c16bb8dc93695bbd91fcc
http://hdl.handle.net/11562/1064430 -
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المؤلفون: SAVOIA, ANNA, DE ROCCO, DANIELA, Germeshausen M., Henschel B., Kratz C., Kuhlen M., Rath B., Steuhl K. P., Wermes C., Ballmaier M.
المساهمون: Savoia, Anna, Germeshausen, M., DE ROCCO, Daniela, Henschel, B., Kratz, C., Kuhlen, M., Rath, B., Steuhl, K. P., Wermes, C., Ballmaier, M.
مصطلحات موضوعية: Malattia MYH9 associata (MYH9RD), piastrinopenia, gene MYH9
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3d7db4650da2a395c5bfd58d0999ff83
http://hdl.handle.net/11368/2304117 -
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المؤلفون: Sheila Butchart, Ling Li, Chanchai Traivaree, Julie D. Forman-Kay, Elliott J. Stollar, Hilary Christensen, Fred G. Pluthero, Victor S. Blanchette, Daniela De Rocco, Walter H. A. Kahr, Anna Savoia, Julie Curtin
المساهمون: Kahr, Wh, Savoia, Anna, Pluthero, Fg, Li, L, Christensen, H, DE ROCCO, Daniela, Traivaree, C, Butchart, Se, Curtin, J, Stollar, Ej, Forman Kay, Jd, Blanchette, V. S.
المصدر: Thrombosis and haemostasis. 102(6)
مصطلحات موضوعية: Blood Platelets, Male, Models, Molecular, Heterozygote, MYH9-related disorder: megakaryocytes, Mutation, Missense, Biology, Malattia MYH9 associata, Immunoglobulin light chain, medicine.disease_cause, myosin IIA, Inclusion bodies, src Homology Domains, chemistry.chemical_compound, Megakaryocyte, Microscopy, Electron, Transmission, Myosin, medicine, Missense mutation, Inherited macrothrombocytopenia, Humans, Platelet, Child, emperipolesis, Conserved Sequence, Inclusion Bodies, Mutation, Myosin Heavy Chains, Molecular Motor Proteins, Hematology, Molecular biology, Thrombocytopenia, Adenosine diphosphate, medicine.anatomical_structure, chemistry, Biochemistry, Amino Acid Substitution, Case-Control Studies, Female, Blood Platelet Disorders, Megakaryocytes, Granulocytes
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7cd71560662d7eec8f30a1f995786ed
https://pubmed.ncbi.nlm.nih.gov/19967157 -
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المؤلفون: Flavio Faletra, Valeria Bozzi, Nuria Pujol-Moix, Carlo L. Balduini, Daniela De Rocco, Alessandro Pecci, Anna Savoia
المساهمون: DE ROCCO, Daniela, PUJOL MOIX, N, Pecci, A, Faletra, F, Bozzi, V, Balduini, Cl, Savoia, Anna
مصطلحات موضوعية: Adult, Blood Platelets, Male, Unequal crossing over, Erythrocytes, Presenile cataracts, Sequence analysis, DNA Mutational Analysis, Molecular Sequence Data, Biology, Malattia MYH9 associata, Cytoplasmic Granules, Cataract, Frameshift mutation, Exon, Gene Duplication, Gene duplication, Genetics, Missense mutation, Humans, Crossing Over, Genetic, Gene, Genetics (clinical), Genes, Dominant, Inclusion Bodies, Base Sequence, Myosin Heavy Chains, Molecular Motor Proteins, Nonmuscle Myosin Type IIA, General Medicine, Exons, Sequence Analysis, DNA, Middle Aged, Molecular biology, Fluorescent Antibody Technique, Direct, Mutation, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cfd806c59690075f9b7fa8bf551fbb5
http://hdl.handle.net/11368/2286206
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