نتائج البحث - "Graziano, C."

1

دورية أكاديمية

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

المؤلفون: Palombo F., Graziano C., Al Wardy N., Nouri N., Marconi C., Magini P., Severi G., La Morgia C., Cantalupo G., Cordelli D. M., Gangarossa S., Al Kindi M. N., Al Khabouri M., Salehi M., Giorgio E., Brusco A., Pisani F., Romeo G., Carelli V., Pippucci T., Seri M.

المساهمون: Palombo F., Graziano C., Al Wardy N., Nouri N., Marconi C., Magini P., Severi G., La Morgia C., Cantalupo G., Cordelli D.M., Gangarossa S., Al Kindi M.N., Al Khabouri M., Salehi M., Giorgio E., Brusco A., Pisani F., Romeo G., Carelli V., Pippucci T., Seri M.

مصطلحات موضوعية: Chromosome Mapping, Consanguinity, Exome, Family, Female, Genes, Recessive, Genetic Testing, Genome, Human, Italy, Male, Middle East, Mutation, Pedigree

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32488467; info:eu-repo/semantics/altIdentifier/wos/WOS:000537373300002; volume:139; issue:11; firstpage:1429; lastpage:1441; numberofpages:13; journal:HUMAN GENETICS; https://hdl.handle.net/11585/794089Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085882895; https://link.springer.com/article/10.1007/s00439-020-02187-7Test

الإتاحة: https://doi.org/10.1007/s00439-020-02187-7Test
https://hdl.handle.net/11585/794089Test

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2

دورية أكاديمية

HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype

المؤلفون: Severi G., Bonora E., Perri A., Scarano E., Mazzanti L., Isidori F., Zuntini R., Menabo S., Graziano C.

المساهمون: Severi G., Bonora E., Perri A., Scarano E., Mazzanti L., Isidori F., Zuntini R., Menabo S., Graziano C.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30933954; info:eu-repo/semantics/altIdentifier/wos/WOS:000467636300001; volume:157; issue:3; firstpage:135; lastpage:140; numberofpages:6; journal:CYTOGENETIC AND GENOME RESEARCH; http://hdl.handle.net/11585/715184Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065554891; http://www.karger.com/cgrTest

الإتاحة: https://doi.org/10.1159/000499174Test
http://hdl.handle.net/11585/715184Test
http://www.karger.com/cgrTest

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3

HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype

المؤلفون: Severi G., Bonora E., Perri A., Scarano E., Mazzanti L., Isidori F., Zuntini R., Menabo S., Graziano C.

المساهمون: Severi G., Bonora E., Perri A., Scarano E., Mazzanti L., Isidori F., Zuntini R., Menabo S., Graziano C.

المصدر: Cytogenetic and genome research. 157(3)

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6a9ae9328764a970ea69c91bd2d95ee8Test
https://pubmed.ncbi.nlm.nih.gov/30933954Test

4

دورية أكاديمية

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

المؤلفون: Jolly, L., Nguyen, L., Domingo, D., Sun, Y., Barry, S., Hancarova, M., Plevova, P., Vlckova, M., Havlovicova, M., Kalscheuer, V., Graziano, C., Pippucci, T., Bonora, E., Sedlacek, Z., Gecz, J.

المصدر: http://dx.doi.org/10.1093/hmg/ddv083Test.

مصطلحات موضوعية: Brain, Cells, Cultured, Animals, Humans, Mice, Oxidoreductases, Carrier Proteins, RNA, Small Interfering, Transduction, Genetic, Amino Acid Substitution, Pedigree, Cell Differentiation, Cell Proliferation, Gene Expression, RNA Interference, Amino Acid Sequence, Active Transport, Cell Nucleus, Mutation, Female, Male, Host Cell Factor C1, HEK293 Cells, Neural Stem Cells, Intellectual Disability

العلاقة: http://purl.org/au-research/grants/nhmrc/628952Test; http://purl.org/au-research/grants/nhmrc/1041920Test; Human Molecular Genetics, 2015; 24(12):3335-3347; http://hdl.handle.net/2440/92072Test; Jolly, L. [0000-0003-4538-2658]; Barry, S. [0000-0002-0597-7609]; Gecz, J. [0000-0002-7884-6861]

الإتاحة: https://doi.org/10.1093/hmg/ddv083Test
http://hdl.handle.net/2440/92072Test

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النص الكامل

5

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

المؤلفون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam GM, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P, Battaglia, S, Fazzi, E, Giordano, L, Pinelli, L, Boccone, L, Barone, R, Sorge, G, Briatore, E, Bigoni, S, Ferlini, A, Donati, Ma, Biancheri, R, Caridi, G, Divizia, Mt, Faravelli, F, Ghiggeri, G, Mirabelli, M, Pessagno, A, Rossi, A, Uliana, V, Amorini, M, Briguglio, M, Briuglia, S, Salpietro, Cd, Tortorella, G, Adami, A, Bonati, Mt, Castorina, P, D'Arrigo, S, Lalatta, F, Marra, G, Moroni, I, Pantaleoni, C, Riva, D, Scelsa, B, Spaccini, L, Del Giudice, E, Ludwig, K, Permunian, A, Suppiej, A, Macaluso, C, Pichiecchio, A, Battini, R, Di Giacomo, M, Priolo, M, Timpani, P, Pagani, G, Di Sabato ML, Emma, F, Leuzzi, V, Mancini, F, Majore, S, Micalizzi, A, Parisi, P, Romani, M, Stringini, G, Zanni, G, Ulgheri, L, Pollazzon, M, Renieri, Alessandra, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonati, A, Al Tawari AA, Bastaki, L, Mégarbané, A, Sabolic Avramovska, V, Said, E, Stromme, P, Koul, R, Rajab, A, Azam, M, Barbot, C, Salih, Ma, Tabarki, B, Jocic Jakubi, B, Martorell Sampol, L, Rodriguez, B, Pascual Castroviejo, I, Gener, B, Puschmann, A, Starck, L, Capone, A, Lemke, J, Fluss, J, Niedrist, D, Hennekam, Rc, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Kayserili, H, Yüksel, A, Akcakus, M, Caglayan, Ao, Aldemir, O, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Sheridan, E, Barnicoat, A, Hemingway, C, Lees, M, Wakeling, E, Blair, E, Bernes, S, Sanchez, H, Clark, Ae, Demarco, E, Donahue, C, Sherr, E, Hahn, J, Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh, Ca, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Karaca, E, Swoboda, Kj, Viskochil, D, Dobyns, Wb, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, Paediatrics, OMÜ, University of Zurich, Valente, Enza Maria, Fluss, Joel Victor, Travaglini, L, Brancati, F, Silhavy, J, Iannicelli, M, Nickerson, E, Elkhartoufi, N, Scott, E, Spencer, E, Gabriel, S, Thomas, S, Ben Zeev, B, Bertini, E, Boltshauser, E, Chaouch, M, Cilio, Mr, de Jong, Mm, Kayserili, H, Ogur, G, Poretti, A, Signorini, S, Uziel, G, Zaki, M, Johnson, C, Atti? Bitach, T, Gleeson, Jg, Valente, Em, International JSRD Study, Group, DEL GIUDICE, Ennio

المصدر: European Journal of Human Genetics, 21(10), 1074-1078. Nature Publishing Group
European journal of human genetics, 21(10), 1074-1078. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Vol. 21, No 10 (2013) pp. 1074-8

مصطلحات موضوعية: Male, Ciliata -- Anatomy, Proband, 10039 Institute of Medical Genetics, Meckel syndrome, RPGRIP1L, Syndromes, INPP5E, MODIFIER, Phosphoric Monoester Hydrolases/genetics, Ciliopathies, Polycystic Kidney Diseases/diagnosis/genetics, CILIUM, 0302 clinical medicine, Gene Frequency, Cerebellum, Prenatal Diagnosis, RETINAL DEGENERATION, Prevalence, MECKEL, ciliopathies, Joubert syndrome and related disorders, Eye Abnormalities, Child, Genetics (clinical), Encephalocele, Joubert syndrome, Genetics, Polycystic Kidney Diseases, 0303 health sciences, ddc:618, Cerebellar Diseases/diagnosis/genetics, Kidney Diseases, Cystic, Pedigree, 3. Good health, Phenotype, Child, Preschool, Medical genetics, Female, Retinitis Pigmentosa, FORM, Ciliary Motility Disorders, Heterozygote, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, Molecular Sequence Data, Encephalocele/diagnosis/genetics, AHI1, 610 Medicine & health, Biology, Retina, Article, Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome, NO, Ciliary Motility Disorders/diagnosis/genetics, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, REVEALS, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Kidney Diseases, Cystic/diagnosis/genetics, abnormalities, multiple, adolescent, amino acid sequence, cerebellar diseases, cerebellum, child, preschool, ciliary motility disorders, encephalocele, eye abnormalities, female, heterozygote, humans, infant, kidney diseases, cystic, male, molecular sequence data, pedigree, phosphoric monoester hydrolases, polycystic kidney diseases, prenatal diagnosis, prevalence, retina, gene frequency, mutation, phenotype, 030304 developmental biology, Eye Abnormalities/diagnosis/genetics, COACH SYNDROME, Retina/abnormalities, Genetic heterogeneity, Respiration disorders -- Therapy, Infant, medicine.disease, Phosphoric Monoester Hydrolases, INPP5E mutation, 10036 Medical Clinic, Mutation, 030217 neurology & neurosurgery

وصف الملف: TravagliniL,_2013.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a63fdbfe2fca03377de88ab3a84b19Test
http://hdl.handle.net/11392/2387959Test

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Novel mutations in the USH1C gene in Usher syndrome patients

المؤلفون: Aparisi, M. J., García-García, G., Jaijo, T., Rodrigo, R., Graziano, C., Marco Seri, Simsek, T., Simsek, E., Bernal, S., Baiget, M., Pérez-Garrigues, H., Aller, E., María Millán, J.

المساهمون: Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM.

المصدر: Scopus-Elsevier
MOLECULAR VISION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular Vision
Europe PubMed Central

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3d6b956503b159af3a7cae9de5759818Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-79551708550&partnerID=MN8TOARSTest

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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

المساهمون: Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G, Maestrini E, Seri M, Romeo G, IMGSAC, Bonora, E, Graziano, C, Minopoli, F, Bacchelli, E, Magini, P, Diquigiovanni, C, Lomartire, S, Bianco, F, Vargiolu, M, Parchi, P, Marasco, E, Mantovani, V, Rampoldi, L, Trudu, M, Parmeggiani, A, Battaglia, A, Mazzone, L, Tortora, G, Maestrini, E, Seri, M, Romeo, G

المصدر: EMBO Molecular Medicine

مصطلحات موضوعية: Male, Vesicular Transport Proteins, Inbred C57BL, medicine.disease_cause, Mice, 0302 clinical medicine, autism spectrum disorders (ASDs), Receptors, Intellectual disability, Missense mutation, Developmental, Protein Interaction Maps, Child, Research Articles, Sequence Deletion, Genetics, Mutation, 0303 health sciences, monoallelic expression, Gene Expression Regulation, Developmental, Settore MED/39 - Neuropsichiatria Infantile, Pedigree, intellectual disability, Child, Preschool, DNA methylation, Molecular Medicine, CADPS2, Female, Corrigendum, Adult, Child Development Disorders, autism spectrum disorders, Nerve Tissue Proteins, Biology, 03 medical and health sciences, Young Adult, Dopamine D2, medicine, Animals, Humans, Allele, MUTATION SCREENING, Preschool, Gene, Alleles, Pervasive, 030304 developmental biology, Aged, Receptors, Dopamine D2, Calcium-Binding Proteins, Genetic Variation, Infant, DNA Methylation, medicine.disease, Mice, Inbred C57BL, Gene Expression Regulation, Child Development Disorders, Pervasive, Autism, CpG Islands, mutation screening, Intellectual Disability, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e62e64e72958619aaabf16aeeae21a4Test
http://hdl.handle.net/11585/295519Test

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Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

المساهمون: Palombo F., Graziano C., Al Wardy N., Nouri N., Marconi C., Magini P., Severi G., La Morgia C., Cantalupo G., Cordelli D.M., Gangarossa S., Al Kindi M.N., Al Khabouri M., Salehi M., Giorgio E., Brusco A., Pisani F., Romeo G., Carelli V., Pippucci T., Seri M.