يعرض 1 - 10 نتائج من 23 نتيجة بحث عن '"E. Bellacchio"', وقت الاستعلام: 1.81s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

    المؤلفون: F. Bruni, I. Di Meo, E. Bellacchio, B. D. Webb, R. Mcfarland, Z. M. A. Chrzanowska-Lightowlers, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P. E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R. W. Taylor, D. Diodato

    المساهمون: F. Bruni, I. Di Meo, E. Bellacchio, B.D. Webb, R. Mcfarland, Z.M.A. Chrzanowska-Lightowler, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P.E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R.W. Taylor, D. Diodato

    مصطلحات موضوعية: Cardioencephalomyopathy, Mitochondrial disorder, OXPHOS, VARS2, Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29314548; info:eu-repo/semantics/altIdentifier/wos/WOS:000426727800009; volume:39; issue:4; firstpage:563; lastpage:578; numberofpages:16; journal:HUMAN MUTATION; http://hdl.handle.net/2434/552120Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041668846

    الإتاحة: https://doi.org/10.1002/humu.23398Test
    http://hdl.handle.net/2434/552120Test

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  2. 2
    دورية أكاديمية
    A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

    المؤلفون: M. Callea, P. Nieminen, C. E. Willoughby, G. Clarich, I. Yavuz, A. Vinciguerra, M. Di Stazio, GIGLIO, SABRINA RITA, I. Sani, M. Maglione, S. Pensiero, G. Tadini, E. Bellacchio

    المساهمون: M., Callea, P., Nieminen, C. E., Willoughby, G., Clarich, I., Yavuz, A., Vinciguerra, M., Di Stazio, Giglio, SABRINA RITA, I., Sani, M., Maglione, S., Pensiero, G., Tadini, E., Bellacchio

    مصطلحات موضوعية: X- linked hypohidrotic ectodermal dysplasia, Ectodysplasin-A (EDA) gene, Hypodontia, Misshaped teeth, Hypo-hidrosi, X-linked recessive

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25266272; info:eu-repo/semantics/altIdentifier/wos/WOS:000368993100028; volume:30; issue:2; firstpage:341; lastpage:343; numberofpages:3; journal:JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY; http://hdl.handle.net/11584/298064Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84956690676

    الإتاحة: https://doi.org/10.1111/jdv.12747Test
    http://hdl.handle.net/11584/298064Test

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  3. 3
    دورية أكاديمية
    A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

    المؤلفون: D. Diodato, G. Tasca, D. Verrigni, A. D'Amico, T. Rizza, G. Tozzi, D. Martinelli, M. Verardo, F. Invernizzi, A. Nasca, E. Bellacchio, F. Piemonte, C. Dionisi Vici, R. Carrozzo, E. Bertini, D. Ghezzi

    المساهمون: D. Diodato, G. Tasca, D. Verrigni, A. D'Amico, T. Rizza, G. Tozzi, D. Martinelli, M. Verardo, F. Invernizzi, A. Nasca, E. Bellacchio, D. Ghezzi, F. Piemonte, C. Dionisi Vici, R. Carrozzo, E. Bertini

    مصطلحات موضوعية: Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26173962; info:eu-repo/semantics/altIdentifier/wos/WOS:000370469500029; volume:24; issue:3; firstpage:463; lastpage:466; numberofpages:4; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523714Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84958163242

    الإتاحة: https://doi.org/10.1038/ejhg.2015.141Test
    http://hdl.handle.net/2434/523714Test

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  4. 4
    دورية أكاديمية
    Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

    المؤلفون: M. Callea, C. Willoughby, P. Nieminen, M. Di Stazio, E. Bellacchio, GIGLIO, SABRINA RITA, I. Sani, A. Vinciguerra, M. Maglione, G. Tadini, G. Clarich

    المساهمون: M., Callea, C., Willoughby, P., Nieminen, M., Di Stazio, E., Bellacchio, Giglio, SABRINA RITA, I., Sani, A., Vinciguerra, M., Maglione, G., Tadini, G., Clarich

    مصطلحات موضوعية: EDAR gene, Ectodermal-derived tissue, Pathogenic variants

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24641098; info:eu-repo/semantics/altIdentifier/wos/WOS:000353457100037; volume:29; issue:5; firstpage:1032; lastpage:1034; numberofpages:3; journal:JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY; http://hdl.handle.net/11584/298037Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84928322566

    الإتاحة: https://doi.org/10.1111/jdv.12457Test
    http://hdl.handle.net/11584/298037Test

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  5. 5
    Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

    المؤلفون: D, Verrigni, D, Diodato, M, Di Nottia, A, Torraco, E, Bellacchio, T, Rizza, G, Tozzi, M, Verardo, F, Piemonte, G, Tasca, A, D'Amico, E, Bertini, R, Carrozzo

    المصدر: Clinical genetics. 91(6)

    مصطلحات موضوعية: Electron Transport, Lysine-tRNA Ligase, Mitochondrial Diseases, Phenotype, Adolescent, Mutation, Humans, Female, Genetic Predisposition to Disease, Cardiomyopathy, Hypertrophic, Psychomotor Disorders, Mitochondria

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f54c56747c2b1057f07dfc72bb914e81Test
    https://pubmed.ncbi.nlm.nih.gov/27891585Test


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  6. 6
    دورية أكاديمية
    MODY type 2 P59S GCK mutant: founder effect in South of Italy

    المؤلفون: M. Del Vecchio, O. Ludovico, E. Bellacchio, R. Stallone, T. Palladino, S. Mastroianno, L. Zelante, M. Sacco, M. Carella, TRISCHITTA, VINCENZO

    المساهمون: M., Del Vecchio, O., Ludovico, E., Bellacchio, R., Stallone, T., Palladino, S., Mastroianno, L., Zelante, M., Sacco, Trischitta, Vincenzo, M., Carella

    مصطلحات موضوعية: genetic, paediatric, diabete, gck-mody, founder effect

    وصف الملف: STAMPA

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22335469; info:eu-repo/semantics/altIdentifier/wos/WOS:000312544000015; volume:83; issue:1; firstpage:83; lastpage:87; numberofpages:5; journal:CLINICAL GENETICS; http://hdl.handle.net/11573/516018Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84871223931

    الإتاحة: https://doi.org/10.1111/j.1399-0004.2012.01856.xTest
    http://hdl.handle.net/11573/516018Test

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  7. 7
    دورية أكاديمية
    ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression

    المؤلفون: GUARINI, Anna, CHIARETTI, sabina, DEL GIUDICE, ILARIA, MAURO, Francesca Romana, FOA, Roberto, M. Marinelli, S. Tavolaro, E. Bellacchio, M. Magliozzi, M. S. De Propris, N. Peragine, S. Santangelo, F. Paoloni, M. Nanni, I. Torrente

    المساهمون: Guarini, Anna, M., Marinelli, S., Tavolaro, E., Bellacchio, M., Magliozzi, Chiaretti, Sabina, M. S., De Propri, N., Peragine, S., Santangelo, F., Paoloni, M., Nanni, DEL GIUDICE, Ilaria, Mauro, Francesca Romana, I., Torrente, Foa, Roberto

    مصطلحات موضوعية: atm, gene expression profiling, mlpa, del11q, chronic lymphocytic leukemia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21993670; info:eu-repo/semantics/altIdentifier/wos/WOS:000299870500011; volume:97; issue:1; firstpage:47; lastpage:55; numberofpages:9; journal:HAEMATOLOGICA; http://hdl.handle.net/11573/424762Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84855231198; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000299870500011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.ncbi.nlm.nih.gov/pubmed/21993670Test; http://www.scopus.com/inward/record.url?eid=2-s2.0-84855231198&partnerID=65&md5=d1d719e377aa8a2d599cbca00e4fe0abTest

    الإتاحة: https://doi.org/10.3324/haematol.2011.049270Test
    http://hdl.handle.net/11573/424762Test
    http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000299870500011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
    http://www.ncbi.nlm.nih.gov/pubmed/21993670Test
    http://www.scopus.com/inward/record.url?eid=2-s2.0-84855231198&partnerID=65&md5=d1d719e377aa8a2d599cbca00e4fe0abTest

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  8. 8
    دورية أكاديمية
    Familial transposition of the great arteries caused by multiple mutations in laterality genes

    المؤلفون: A. De Luca, A. Sarkozy, F. Consoli, R. Ferese, V. Guida, M. L. Dentici, R. Mingarelli, E. Bellacchio, G. Tuo, G. Limongelli, M. C. Digilio, MARINO TAUSSIG DE BODONIA, Bruno, DALLA PICCOLA, Bruno

    المساهمون: A., De Luca, A., Sarkozy, F., Consoli, R., Ferese, V., Guida, M. L., Dentici, R., Mingarelli, E., Bellacchio, G., Tuo, G., Limongelli, M. C., Digilio, MARINO TAUSSIG DE BODONIA, Bruno, DALLA PICCOLA, Bruno

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19933292; info:eu-repo/semantics/altIdentifier/wos/WOS:000277066500009; volume:96; issue:9; firstpage:673; lastpage:677; numberofpages:5; journal:HEART; http://hdl.handle.net/11573/366253Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951655078; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000277066500009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-77951655078&partnerID=65&md5=063dd5c752594c7318e3077cccfc4c40Test

    الإتاحة: https://doi.org/10.1136/hrt.2009.181685Test
    http://hdl.handle.net/11573/366253Test
    http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000277066500009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
    http://www.scopus.com/inward/record.url?eid=2-s2.0-77951655078&partnerID=65&md5=063dd5c752594c7318e3077cccfc4c40Test

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  9. 9
    دورية أكاديمية
    Mutation screening of the DYT6/THAP1 gene in Italy.

    المؤلفون: M. Bonetti, C. Barzaghi, A. Ferraris, E. Bellacchio, A. Giovanetti, T. Ialongo, G. Zorzi, C. Piano, M. Petracca, A. Albanese, N. Nardocci, B. Dallapiccola, A. R. Bentivoglio, B. Garavaglia, E. M. Valente, BRANCATI, Francesco

    المساهمون: M., Bonetti, C., Barzaghi, Brancati, Francesco, A., Ferrari, E., Bellacchio, A., Giovanetti, T., Ialongo, G., Zorzi, C., Piano, M., Petracca, A., Albanese, N., Nardocci, B., Dallapiccola, A. R., Bentivoglio, B., Garavaglia, E. M., Valente

    مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Aged, 80 and over, Apoptosis Regulatory Protein, genetics, Child, Preschool, Cohort Studies, DNA-Binding Protein, Dystonia Musculorum Deforman, Female, Genetic Testing, methods, Humans, Infant, Italy, epidemiology, Male, Middle Aged, Mutation, Nuclear Protein, Young Adult

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19908325; volume:24; firstpage:2424; lastpage:2427; numberofpages:3; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11564/270795Test; http://dx.doi.org/10.1002/mds.22861Test

    الإتاحة: https://doi.org/10.1002/mds.22861Test
    http://hdl.handle.net/11564/270795Test

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  10. 10
    دورية أكاديمية
    Lipoxygenase inhibitory activity of boropinic acid, active principle of Boronia pinnata.

    المؤلفون: M. CURINI, F. EPIFANO, S. GENOVESE, L. MENGHINI, E. BELLACCHIO, RICCI, DONATA, FRATERNALE, DANIELE, GIAMPERI, LAURA, BUCCHINI, ANAHI ELENA ADA

    المساهمون: M., Curini, F., Epifano, S., Genovese, L., Menghini, Ricci, Donata, Fraternale, Daniele, Giamperi, Laura, Bucchini, ANAHI ELENA ADA, E., Bellacchio

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/000249007000016; volume:1; firstpage:1141; lastpage:1145; journal:NATURAL PRODUCT COMMUNICATIONS; http://hdl.handle.net/11576/2303209Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-49749086137

    الإتاحة: http://hdl.handle.net/11576/2303209Test

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