نتائج البحث - "Nardone A."

1

دورية أكاديمية

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

المؤلفون: Trpchevska, Natalia, Freidin, Maxim B., Broer, Linda, Oosterloo, Berthe C., Yao, Shuyang, Zhou, Yitian, Vona, Barbara, Bishop, Charles, Bizaki-Vallaskangas, Argyro, Canlon, Barbara, Castellana, Fabio, Chasman, Daniel I., Cherny, Stacey, Christensen, Kaare, Concas, Maria Pina, Correa, Adolfo, Elkon, Ran, Mengel-From, Jonas, Gao, Yan, Giersch, Anne B.S., Girotto, Giorgia, Gudjonsson, Alexander, Gudnason, Vilmundur, Heard-Costa, Nancy L., Hertzano, Ronna, Hjelmborg, Jacob v.B., Hjerling-Leffler, Jens, Hoffman, Howard J., Kaprio, Jaakko, Kettunen, Johannes, Krebs, Kristi, Kähler, Anna K., Lallemend, Francois, Launer, Lenore J., Lee, I-Min, Leonard, Hampton, Li, Chuan-Ming, Lowenheim, Hubert, Magnusson, Patrik K.E., van Meurs, Joyce, Milani, Lili, Morton, Cynthia C., Mäkitie, Antti, Nalls, Mike A., Nardone, Giuseppe Giovanni, Nygaard, Marianne, Palviainen, Teemu, Pratt, Sheila, Quaranta, Nicola, Rämö, Joel

المصدر: The American Journal of Human Genetics ; volume 109, issue 6, page 1077-1091 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.04.010Test
https://api.elsevier.com/content/article/PII:S0002929722001586?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929722001586?httpAccept=text/plainTest

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2

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome

المؤلفون: Giuseppe Lamorte, Jessica Rosati, Daniela Ferrari, Laura Bernardini, Gianluigi Mazzoccoli, Matteo Della Monica, Angelo L. Vescovi, Antonella De Jaco, Elisa Maria Turco, Annamaria Nardone, Ersilia Vinci, Filomena Altieri, Barbara Torres

المساهمون: Altieri, F, Turco, E, Vinci, E, Torres, B, Ferrari, D, De Jaco, A, Mazzoccoli, G, Lamorte, G, Nardone, A, Della Monica, M, Bernardini, L, Vescovi, A, Rosati, J

المصدر: Stem Cell Research, Vol 28, Iss, Pp 153-156 (2018)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a085952af3911fae3616d629973c25dTest
https://doi.org/10.1016/j.scr.2018.02.016Test

3

دورية أكاديمية

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

المؤلفون: Spielmann, Malte, Brancati, Francesco, Krawitz, Peter M., Robinson, Peter N., Ibrahim, Daniel M., Franke, Martin, Hecht, Jochen, Lohan, Silke, Dathe, Katarina, Nardone, Anna Maria, Ferrari, Paola, Landi, Antonio, Wittler, Lars, Timmermann, Bernd, Chan, Danny, Mennen, Ulrich, Klopocki, Eva, Mundlos, Stefan

المصدر: The American Journal of Human Genetics ; volume 91, issue 4, page 629-635 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.08.014Test
https://api.elsevier.com/content/article/PII:S0002929712004260?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929712004260?httpAccept=text/plainTest

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4

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature

المؤلفون: Isabella Mammi, Diana Postorivo, Aminta Varricchio, Maria Garzo, Elisa Nalesso, Teresa Mattina, Ilaria Catusi, Maria Paola Recalcati, Laura Cardarelli, Nicola Beltrami, Anna Sajeva, Maria Teresa Bonati, Daniela Giardino, Annapia Verri, Lidia Larizza, Asia Costa, Nicoletta Villa, Anna Maria Nardone

المصدر: European Journal of Medical Genetics. 61:173-180

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ee44c49bf4aa6e1d6440e91216290a5Test
https://doi.org/10.1016/j.ejmg.2017.11.007Test

5

دورية أكاديمية

Tet1 and Tet2 Regulate 5-Hydroxymethylcytosine Production and Cell Lineage Specification in Mouse Embryonic Stem Cells

المؤلفون: Koh, Kian Peng, Yabuuchi, Akiko, Rao, Sridhar, Huang, Yun, Cunniff, Kerrianne, Nardone, Julie, Laiho, Asta, Tahiliani, Mamta, Sommer, Cesar A., Mostoslavsky, Gustavo, Lahesmaa, Riitta, Orkin, Stuart H., Rodig, Scott J., Daley, George Q., Rao, Anjana

المصدر: Cell Stem Cell ; volume 8, issue 2, page 200-213 ; ISSN 1934-5909

مصطلحات موضوعية: Cell Biology, Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.stem.2011.01.008Test
https://api.elsevier.com/content/article/PII:S1934590911000099?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1934590911000099?httpAccept=text/plainTest

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6

دورية أكاديمية

ASTD: The Alternative Splicing and Transcript Diversity database

المصدر: Genomics ; volume 93, issue 3, page 213-220 ; ISSN 0888-7543

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1016/j.ygeno.2008.11.003Test
https://api.elsevier.com/content/article/PII:S0888754308002747?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0888754308002747?httpAccept=text/plainTest

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7

Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel Syndrome

المساهمون: Beyder, A, Mazzone, A, Strege, Pr, Tester, Dj, Saito, Ya, Bernard, Ce, Enders, Ft, Ek, We, Schmidt, Pt, Dlugosz, A, Lindberg, G, Karling, P, Ohlsson, B, Gazouli, M, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, P, Galeazzi, F, Neri, M, Portincasa, P, Bellini, M, Barbara, G, Camilleri, M, Locke GR, 3rd, Talley, Nj, D'Amato, M, Ackerman, Mj, Farrugia, G., Beyder, Arthur, Mazzone, Amelia, Strege, Peter R, Tester, David J, Saito, Yuri A, Bernard, Cheryl E, Enders, Felicity T, Ek, Weronica E, Schmidt, Peter T, Dlugosz, Aldona, Lindberg, Greger, Karling, Pontu, Ohlsson, Bodil, Gazouli, Maria, Nardone, Gerardo, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Camilleri, Michael, Locke, G Richard, Talley, Nicholas J, D'Amato, Mauro, Ackerman, Michael J, Farrugia, Gianrico

المصدر: Gastroenterology. 146:1659-1668

مصطلحات موضوعية: Male, Proband, Genetics, GI Motility, Polymorphism, Voltage-Gated Sodium Channel, Adolescent, Adult, Aged, Case-Control Studies, Channelopathies, Constipation, DNA Mutational Analysis, Diarrhea, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, HEK293 Cells, Humans, Irritable Bowel Syndrome, Membrane Potentials, Middle Aged, NAV1.5 Voltage-Gated Sodium Channel, Phenotype, Prevalence, Prospective Studies, Risk Factors, Transfection, Voltage-Gated Sodium Channel Blockers, Young Adult, Gastrointestinal Motility, Mutation, Missense, Gastroenterology, Genome-wide association study, Nav1.5, HEK293 Cell, Missense mutation, Irritable bowel syndrome, biology, cardiovascular system, Case-Control Studie, Human, medicine.drug, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Membrane Potential, Article, Channelopathie, DNA Mutational Analysi, Genetic, Mexiletine, Internal medicine, medicine, cardiovascular diseases, Hepatology, business.industry, Risk Factor, Case-control study, medicine.disease, Prospective Studie, Endocrinology, Voltage-Gated Sodium Channel Blocker, Mutation, biology.protein, Missense, business