نتائج البحث - "Dora Varvara"

المساهمون: HUS Abdominal Center, II kirurgian klinikka, Department of Surgery, University of Helsinki, Helsinki University Hospital Area, Clinical sciences, Medical Genetics, University Hospital Basel [Basel], University of Basel (Unibas), University Hospital Bonn, Aalborg University [Denmark] (AAU), Unité fonctionnelle d'Oncogénétique et Angiogénétique Moléculaire [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU), Institut Curie [Paris], University of Manchester [Manchester], Fondazione 'Policlinico Universitario A. Gemelli' [Rome], Università cattolica del Sacro Cuore [Roma] (Unicatt), Leiden University Medical Center (LUMC), Universität Witten Herdecke, University of Bari Aldo Moro (UNIBA)

المصدر: Genetics in Medicine
Genetics in Medicine, 22(9), 1524-1532. NATURE PUBLISHING GROUP
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-020-0826-1⟩
Blatter, R, Tschupp, B, Aretz, S, Bernstein, I, Colas, C, Evans, D G, Genuardi, M, Hes, F J, Hüneburg, R, Järvinen, H, Lalloo, F, Moeslein, G, Renkonen-Sinisalo, L, Resta, N, Spier, I, Varvara, D, Vasen, H, Latchford, A R & Heinimann, K 2020, ' Disease expression in juvenile polyposis syndrome : a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers ', Genetics in Medicine, vol. 22, no. 9, pp. 1524-1532 . https://doi.org/10.1038/s41436-020-0826-1Test

مصطلحات موضوعية: 0301 basic medicine, polyposis, 030105 genetics & heredity, PHENOTYPE, Settore MED/03 - GENETICA MEDICA, SMAD4, Surveys and Questionnaires, Genetics(clinical), Juvenile polyposis syndrome, Telangiectasia, Genetics (clinical), Smad4 Protein, Intestinal Polyposis, Stomach, 1184 Genetics, developmental biology, physiology, genotype–phenotype correlation, syndrome, PREVALENCE, GENOTYPE, 3. Good health, juvenile polyposis syndrome, medicine.anatomical_structure, Cohort, medicine.symptom, Adult, medicine.medical_specialty, Anemia, [SDV.CAN]Life Sciences [q-bio]/Cancer, colorectal cancer, genotype-phenotype correlation, Article, hereditary hemorrhagic telangiectasia, 03 medical and health sciences, Neoplastic Syndromes, Hereditary, Internal medicine, medicine, Humans, Bone Morphogenetic Protein Receptors, Type I, Germ-Line Mutation, BMPR1A, Retrospective Studies, MUTATIONS, business.industry, Cancer, Retrospective cohort study, medicine.disease, digestive system diseases, DELETIONS, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, 3111 Biomedicine, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44f257176c70f67a4998111bb1dbb34bTest
http://europepmc.org/articles/PMC7462743Test

4

Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement

المؤلفون: Emanuele Damiano Luca Urso, Maurizio Ponz de Leon, Marco Vitellaro, Guglielmo Niccolò Piozzi, Quoc Riccardo Bao, Aline Martayan, Andrea Remo, Vittoria Stigliano, Cristina Oliani, Emanuela Lucci Cordisco, Salvatore Pucciarelli, Guglielmina Nadia Ranzani, Alessandra Viel, Francesca Adami, Elisa Alducci, Lucia Amadori, Valentina Arcangeli, Luisa Balestrino, Daniela Barana, Lucio Bertario, Bernardo Bonanni, Stefania Boni, Pierluigi Bullian, Fiorella Carbonardi, Ileana Carnevali, Paola Castelli, Francesco Celotto, Giulia Cini, Gino Crivellari, Duilio Della Libera, Anastasia Dell'elice, Maria Digennaro, Alessandra D'urso, Antonella Fabretto, Daniele Fanale, Irene Feroce, Daniela Furlan, Paola Ghiorzo, Mara Giacché, Milena Gusella, Barbara Liserre, Isabella Mammi, Stefania Massuras, Daniela Mazzà, Eleonora Mollica, Alberto Morabito, Giorgia Nardo, Flavia Palermo, Elena Panizza, Margherita Patruno, Monica Pedroni, Valeria Grazia Maria Pensotti, Guglielmo Niccolo Piozzi, Simonetta Pozzi, Silvia Presi, Marta Puzzono, Mila Ravegnani, Maria Teresa Ricci, Luca Roncucci, Giovanni Battsita Rossi, Elena Maria Sala, Lupe Sanchez Mete, Daniele Sandonà, Stefania Sciallero, Davide Serrano, Stefano Signoroni, Francesca Spina, Monica Taborelli, Gianluca Tedaldi, Maria Grazia Tibiletti, Silvia Tognazzo, Gianluca Tolva, Cristina Maria Concetta Trovato, Daniela Turchetti, Dora Varvara, Caterina Vivanet, Stefania Zovato, Raffaella Alessia Zuppardo

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.