نتائج البحث - "Luisa Balestrino"

المساهمون: Urso E.D.L., Ponz de Leon M., Vitellaro M., Piozzi G.N., Bao Q.R., Martayan A., Remo A., Stigliano V., Oliani C., Lucci Cordisco E., Pucciarelli S., Ranzani G.N., Viel A., Adami F., Alducci E., Amadori L., Arcangeli V., Balestrino L., Barana D., Bertario L., Bonanni B., Boni S., Bullian P., Carbonardi F., Carnevali I., Castelli P., Celotto F., Cini G., Crivellari G., Libera D.D., Dell'elice A., Digennaro M., D'urso A., Fabretto A., Fanale D., Feroce I., Furlan D., Ghiorzo P., Giacche M., Gusella M., Liserre B., Mammi I., Massuras S., Mazza D., Mollica E., Morabito A., Nardo G., Palermo F., Panizza E., Patruno M., Pedroni M., Pensotti V.G.M., Pozzi S., Presi S., Puzzono M., Ravegnani M., Ricci M.T., Roncucci L., Rossi G.B., Sala E.M., Mete L.S., Sandona D., Sciallero S., Serrano D., Signoroni S., Spina F., Taborelli M., Tedaldi G., Tibiletti M.G., Tognazzo S., Tolva G., Trovato C.M.C., Turchetti D., Varvara D., Vivanet C., Zovato S., Zuppardo R.A.

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f531438840439dfae0dfb7c41cf93d16Test
http://hdl.handle.net/11577/3409650Test

4

A genetic epidemiology study of congenital adrenal hyperplasia in Italy

المؤلفون: Luisa Balestrino, Carlo Carcassi, Antonella Meloni, Sandro Loche, Stefano Mariotti, Antonio Balsamo, Giovanni Romeo, Rita Ortolano, Stefania Murru, Lilia Baldazzi, Alessandro Gialluisi, Soara Menabo, Letizia Casula, Maria Carla Farci

المصدر: Clinical Genetics. 93:223-227

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aaefedc8b6c14cd95c76cc9a2ac31d37Test
https://doi.org/10.1111/cge.13078Test

5

دورية أكاديمية

[Untitled]

المؤلفون: Luigi Zorcolo, Giovanni Fantola, Luisa Balestrino, Angelo Restivo, Caterina Vivanet, Francesca Spina, Francesco Cabras, Rossano Ambu

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.tumorionline.it/r.php?a%3D10731%26f%3Dallegati/00989_2011_05/fulltext/23-Zorcolo+%28676-680%29.pdf%26l%3D14715%26v%3D989Test.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.679.1854Test; http://www.tumorionline.it/r.php?a%3D10731%26f%3Dallegati/00989_2011_05/fulltext/23-Zorcolo+%28676-680%29.pdf%26l%3D14715%26v%3D989Test

الإتاحة: http://www.tumorionline.it/r.php?a%3D10731%26f%3Dallegati/00989_2011_05/fulltext/23-Zorcolo+%28676-680%29.pdf%26l%3D14715%26v%3D989Test

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6

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 7693, p 7693 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 14

مصطلحات موضوعية: 0301 basic medicine, Proband, Gene panel, Genes, BRCA2, Genes, BRCA1, Penetrance, Regulatory Sequences, Nucleic Acid, Coding variants, Cohort Studies, 0302 clinical medicine, BRCA1/2, Breast cancer predisposition genes, Hereditary breast and ovarian cancer, NGS, Non‐coding variants, Regulatory regions, Adult, Age of Onset, Female, Genetic Predisposition to Disease, Genetic Variation, Germ-Line Mutation, Hereditary Breast and Ovarian Cancer Syndrome, Humans, Italy, Middle Aged, PTEN Phosphohydrolase, Biology (General), Spectroscopy, Genetics, General Medicine, Computer Science Applications, Chemistry, 030220 oncology & carcinogenesis, QH301-705.5, PALB2, Biology, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Breast cancer, Germline mutation, medicine, PTEN, Physical and Theoretical Chemistry, QD1-999, Molecular Biology, CHEK2, Nucleic Acid, Organic Chemistry, BRCA1, medicine.disease, BRCA2, 030104 developmental biology, Genes, non-coding variants, biology.protein, Age of onset, Regulatory Sequences

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::403c72eb2f79369f6234a7eb40fee995Test
https://doi.org/10.3390/ijms22147693Test

7

FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

المؤلفون: Laura Ottini, Bernard Peissel, Carmen J Tartari, Peter Devilee, Silvia Tognazzo, Anders Kvist, Lara Della Puppa, Mara Colombo, Isabella Marchi, Conxi Lázaro, Caterina Vivanet, Jordi Surrallés, Valeria Viassolo, Joseph Vijai, Kenneth Offit, Paolo Radice, Veronica Medici, Ana Osorio, Francesca Spina, Stefania Tommasi, Carlo Tondini, Marina Marchetti, Chiara Corna, Eliseos J. Mucaki, Gabriele Lorenzo Capone, Piera Rizzolo, Maurizio Genuardi, Alessandra Renieri, Jan Hauke, Laura Cortesi, Laura Caleca, Dominique Stoppa-Lyonnet, Paolo Peterlongo, Christi J. van Asperen, Hans Ehrencrona, Fergus J. Couch, Ian G. Campbell, Valeria Pensotti, Irene Catucci, Miguel Angel Pujana, Sylvie Mazoyer, Massimo Federico, Paolo Verderio, Alfons Meindl, Brunella Pilato, Claus R. Bartram, Valentina Dall'Olio, Paul A. James, Massimo Bogliolo, Loris Bernard, Maria Marín, Valérie Sornin, Luisa Balestrino, Gaia Roversi, Judith Balmaña, Marie-Gabrielle Dondon, Simona Agata, Rita K. Schmutzler, Barbara Burwinkel, Viviana Gismondi, Giulia Cini, Ella R. Thompson, Nadine Andrieu, Sara Volorio, Maria Grazia Tibiletti, Francesca Damiola, Harald Surowy, Alessandra Viel, Peter K. Rogan, Laura Matricardi, Anna Laura Putignano, Cristina Verzeroli, Anna Falanga, Chiara Perfumo, Marco Montagna, Margherita Baldassarri, Monica Barile, Riccardo Dolcetti, Florentine Hilbers, Javier Benitez, Laura Papi, Maria Antonietta Mencarelli, Séverine Eon-Marchais, Gillian Mitchell, Orland Diez, Siranoush Manoukian, Maria A. Caligo, Christian Sutter, Gaetana Gambino, Xianshu Wang, Marco A. Pierotti, Bernardo Bonanni, Sara Pizzamiglio, Liliana Varesco, Valentina Silvestri, Olga M. Sinilnikova

المساهمون: Peterlongo, P, Catucci, I, Colombo, M, Caleca, L, Mucaki, E, Bogliolo, M, Marin, M, Damiola, F, Bernard, L, Pensotti, V, Volorio, S, Dall'Olio, V, Meindl, A, Bartram, C, Sutter, C, Surowy, H, Sornin, V, Dondon, M, Eon-Marchais, S, Stoppa-Lyonnet, D, Andrieu, N, Sinilnikova, O, Mitchell, G, James, P, Thompson, E, Kconfab, Marchetti, M, Verzeroli, C, Tartari, C, Capone, G, Putignano, A, Genuardi, M, Medici, V, Marchi, I, Federico, M, Tognazzo, S, Matricardi, L, Agata, S, Dolcetti, R, Della Puppa, L, Cini, G, Gismondi, V, Viassolo, V, Perfumo, C, Mencarelli, M, Baldassarri, M, Peissel, B, Roversi, G, Silvestri, V, Rizzolo, P, Spina, F, Vivanet, C, Tibiletti, M, Caligo, M, Gambino, G, Tommasi, S, Pilato, B, Tondini, C, Corna, C, Bonanni, B, Barile, M, Osorio, A, Benitez, J, Balestrino, L, Ottini, L, Manoukian, S, Pierotti, M, Renieri, A, Varesco, L, Couch, F, Wang, X, Devilee, P, Hilbers, F, van Asperen, C, Viel, A, Montagna, M, Cortesi, L, Diez, O, Balmaña, J, Hauke, J, Schmutzler, R, Papi, L, Pujana, M, Lázaro, C, Falanga, A, Offit, K, Vijai, J, Campbell, I, Burwinkel, B, Kvist, A, Ehrencrona, H, Mazoyer, S, Pizzamiglio, S, Verderio, P, Surralles, J, Rogan, P, Radice, P

المصدر: Biochemistry Publications
Human Molecular Genetics, 24(18), 5345-5355

مصطلحات موضوعية: DNA Repair, Heterogeneous Nuclear Ribonucleoprotein A1, DNA Mutational Analysis, Gene Expression, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, 0302 clinical medicine, Gene Frequency, Risk Factors, Genetics, Genetics (clinical), Molecular Biology, Genotype, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, FANCM, Age of Onset, 0303 health sciences, Mutation, Association Studies Articles, General Medicine, Exons, Middle Aged, 3. Good health, ddc, Codon, Nonsense, 030220 oncology & carcinogenesis, Female, Protein Binding, Adult, Alleles, Binding Sites, Breast Neoplasms, Case-Control Studies, DNA Helicases, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Meta-Analysis as Topic, Nucleotide Motifs, Position-Specific Scoring Matrices, Young Adult, Alternative Splicing, PALB2, Nonsense mutation, Biology, breast cancer, risk factor, 03 medical and health sciences, Breast cancer, FANCM c.5791C>T nonsense mutation (rs144567652, medicine, Risk factor, Codon, 030304 developmental biology, medicine.disease, Exon skipping, FANCM, familial breast cancer, Nonsense, Cancer research

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd39da8b57dc2d323699626aa2de9678Test
https://hdl.handle.net/1887/107295Test

8

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

المؤلفون: Barbara Pasini, Anna Allavena, Carlo Carcassi, Luisa Balestrino, Monica Micheletti, I. Borelli, Caterina Vivanet, Francesca Spina, Paola Sala, Guido C. Casalis Cavalchini, Marco Barberis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2bcda9700c9ea5e2bbfa1259fcfe9beTest
https://europepmc.org/articles/PMC3548257Test/

9

P26.21: Multiple congenital anomalies syndrome with urorectal septum malformation, absent radii, cerebellar vermis aplasia: case report

المؤلفون: Giuseppina Parodo, Maria Francesca Atzeni, Gavino Faa, R Murru, Gian Benedetto Melis, Carlo Carcassi, S. Deidda, Luisa Balestrino, Giancarlo Serra, Marco Angiolucci

المصدر: Ultrasound in Obstetrics and Gynecology. 30:552-552

مصطلحات موضوعية: Cerebellar vermis aplasia, Urorectal septum, Reproductive Medicine, Radiological and Ultrasound Technology, business.industry, Obstetrics and Gynecology, Medicine, Radiology, Nuclear Medicine and imaging, General Medicine, Anatomy, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0863577b36bfb96a9443d7817420d211Test
https://doi.org/10.1002/uog.4710Test

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