المؤلفون: Girolami Francesca, Gozzini Alessia, Pálinkás Eszter Dalma, Ballerini Adelaide, Tomberli Alessia, Baldini Katia, Marchi Alberto, Zampieri Mattia, Passantino Silvia, Porcedda Giulio, Calabri Giovanni Battista, Bennati Elena, Spaziani Gaia, Crotti Lia, Cecchi Franco, Favilli Silvia, Olivotto Iacopo

مصطلحات موضوعية: 03.02. Klinikai orvostan

وصف الملف: text

Relation: http://publicatio.bibl.u-szeged.hu/27254/1/Palinkas2.pdf; Girolami Francesca; Gozzini Alessia; Pálinkás Eszter Dalma; Ballerini Adelaide; Tomberli Alessia; Baldini Katia; Marchi Alberto; Zampieri Mattia; Passantino Silvia; Porcedda Giulio; Calabri Giovanni Battista; Bennati Elena; Spaziani Gaia; Crotti Lia; Cecchi Franco; Favilli Silvia; Olivotto Iacopo: Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions. JOURNAL OF CLINICAL MEDICINE, 12 (7). ISSN 2077-0383 (2023)

الاتاحة: http://publicatio.bibl.u-szeged.hu/27254/
http://publicatio.bibl.u-szeged.hu/27254/1/Palinkas2.pdf
https://doi.org/10.3390/jcm12072489

المؤلفون: Bennati, Elena, Capponi, Guglielmo, Favilli, Silvia, Girolami, Francesca, Gozzini, Alessia, Spaziani, Gaia, Passantino, Silvia, Tamburini, Angela, Tondo, Annalisa, Olivotto, Iacopo

المصدر: Circulation: Genomic and Precision Medicine ; volume 17, issue 2 ; ISSN 2574-8300

الاتاحة: http://dx.doi.org/10.1161/circgen.123.004353
https://www.ahajournals.org/doi/full/10.1161/CIRCGEN.123.004353

المؤلفون: Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, La Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria, Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia

المساهمون: Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Naples Federico II = Università degli studi di Napoli Federico II, Azienda Ospedaliero-Universitaria Policlinico “Gaspare Rodolico”, Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute Milan, Meyer Children's Hospital Florence, Italie, Università degli Studi di Firenze = University of Florence = Université de Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-15-IDEX-0004,LUE,Isite LUE(2015)

المصدر: ISSN: 1868-7083 ; Clinical Epigenetics ; https://hal.sorbonne-universite.fr/hal-03278520 ; Clinical Epigenetics, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩.

مصطلحات موضوعية: Secondary epimutation, Promoter hypermethylation, CpG island, Methylmalonic aciduria and homocystinuria, cblC type, cblC disease, Epi-cblC, Expanded newborn screening (NBS), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/34215320; PUBMED: 34215320; PUBMEDCENTRAL: PMC8254308; WOS: 000669202600001

الاتاحة: https://hal.sorbonne-universite.fr/hal-03278520
https://hal.sorbonne-universite.fr/hal-03278520v1/document
https://hal.sorbonne-universite.fr/hal-03278520v1/file/s13148-021-01117-2.pdf
https://doi.org/10.1186/s13148-021-01117-2

المؤلفون: Girolami, F, Gozzini, A, Pálinkás, E, Ballerini, A, Tomberli, A, Baldini, K, Marchi, A, Zampieri, M, Passantino, S, Porcedda, G, Calabri, G, Bennati, E, Spaziani, G, Crotti, L, Cecchi, F, Favilli, S, Olivotto, I, Girolami, Francesca, Gozzini, Alessia, Pálinkás, Eszter Dalma, Ballerini, Adelaide, Tomberli, Alessia, Baldini, Katia, Marchi, Alberto, Zampieri, Mattia, Passantino, Silvia, Porcedda, Giulio, Calabri, Giovanni Battista, Bennati, Elena, Spaziani, Gaia, Crotti, Lia, Cecchi, Franco, Favilli, Silvia, Olivotto, Iacopo

مصطلحات الفهرس: cascade testing, genetic counselling, genetic testing, hypertrophic cardiomyopathy, multidisciplinary team, next-generation sequencing, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10281/411895
info:eu-repo/semantics/altIdentifier/pmid/37048573
info:eu-repo/semantics/altIdentifier/wos/WOS:000969679200001
volume:12
issue:7
journal:JOURNAL OF CLINICAL MEDICINE

المؤلفون: Zampieri, Mattia, Di Filippo, Chiara, Zocchi, Chiara, Fico, Vera, Golinelli, Cristina, Spaziani, Gaia, Calabri, Giovanni, Bennati, Elena, Girolami, Francesca, Marchi, Alberto, Passantino, Silvia, Porcedda, Giulio, Capponi, Guglielmo, Gozzini, Alessia, Olivotto, Iacopo, Ragni, Luca, Favilli, Silvia

المصدر: Diagnostics (2075-4418); Dec2023, Vol. 13 Issue 24, p3666, 17p

مصطلحات موضوعية: CARDIOMYOPATHIES, CHILD patients, SYMPTOMS, PEDIATRICS, HEART failure, TREATMENT failure

المؤلفون: Arcidiacono, T., Rainone, F., Terranegra, A., Dogliotti, E., Paloschi, V., Lauriero, G., Aloia, A., Soldati, L., Vezzoli, G., Spotti, Donatella, Cusi, Daniele, Borghi, Loris, Guerra, Angela, Allegri, Franca, Prati, Beatrice, Meschi, Tiziana, Nouvenne, Antonio, Gambaro, Giovanni, Lupo, Antonio, Fabris, Antonia, Aslam, Naveed, Rendina, Domenico, Mossetti, Giuseppe, De Filippo, Giampaolo, Strazzullo, Pasquale, Brandi, Maria Luisa, Croppi, Emanuele, Tanini, Annalisa, Falchetti, Alberto, Gozzini, Alessia, Trinchieri, Alberto, Caudarella, Renata, Cupisti, Adamasco, Citron, Lorenzo, Anglani, Franca, D'Angelo, Angela, Bellinzoni, Piera, Vescini, Fabio

مصطلحات موضوعية: Pharmaceutical Science

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/107817

الاتاحة: https://www.openaccessrepository.it/record/107817
https://doi.org/10.1177/039493620902100215

المؤلفون: Girolami, Francesca, Gozzini, Alessia, Passantino, Silvia, Calabri, Giovanni Battista, Spaziani, Gaia, Porcedda, Giulio, Bennati, Elena, Favilli, Silvia, Olivotto, Iacopo

المصدر: European Heart Journal Supplements ; volume 24, issue Supplement_K ; ISSN 1520-765X 1554-2815

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الاتاحة: http://dx.doi.org/10.1093/eurheartjsupp/suac121.409
https://academic.oup.com/eurheartjsupp/article-pdf/24/Supplement_K/suac121.409/47966875/suac121.409.pdf

المؤلفون: Girolami, Francesca, Gozzini, Alessia, Pálinkás, Eszter Dalma, Ballerini, Adelaide, Tomberli, Alessia, Baldini, Katia, Marchi, Alberto, Zampieri, Mattia, Passantino, Silvia, Porcedda, Giulio, Calabri, Giovanni Battista, Bennati, Elena, Spaziani, Gaia, Crotti, Lia, Cecchi, Franco, Favilli, Silvia, Olivotto, Iacopo

المصدر: Journal of Clinical Medicine; Apr2023, Vol. 12 Issue 7, p2489, 9p

مصطلحات موضوعية: GENETIC counseling, HYPERTROPHIC cardiomyopathy, GENETIC testing, NUCLEOTIDE sequencing

المؤلفون: Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, la Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0722c77e3449ad1d9afec727c356b894

المؤلفون: Torregrossa, Rossella, Anglani, Franca, Fabris, Antonia, Gozzini, Alessia, Tanini, Annalisa, Del Prete, Dorella, Cristofaro, Rosalba, Artifoni, Lina, Abaterusso, Cataldo, Marchionna, Nicola, Lupo, Antonio, D'Angelo, Angela, Gambaro, Giovanni

المصدر: Clinical Journal of the American Society of Nephrology ; volume 5, issue 7, page 1205-1210 ; ISSN 1555-9041

الاتاحة: http://dx.doi.org/10.2215/cjn.07551009
https://journals.lww.com/01277230-201007000-00008

المؤلفون: de Giorgi, Vincenzo, Mavilia, Carmelo, Massi, Daniela, Gozzini, Alessia, Aragona, Palma, Tanini, Annalisa, Sestini, Serena, Paglierani, Milena, Boddi, Vieri, Brandi, Maria Luisa, Lotti, Torello

مصطلحات موضوعية: Dermatology, General Medicine

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/191722

الاتاحة: https://www.openaccessrepository.it/record/191722
https://doi.org/10.1001/archdermatol.2008.537

المؤلفون: Girolami, Francesca, Passantino, Silvia, Ballerini, Adelaide, Gozzini, Alessia, Porcedda, Giulio, Olivotto, Iacopo, Favilli, Silvia

المصدر: Cardiogenetics; Jun2022, Vol. 12 Issue 2, p206-211, 6p

مصطلحات موضوعية: CARDIOMYOPATHIES, GENETIC testing, HEART transplantation, GENETIC mutation, RARE diseases

المؤلفون: Luzi Ettore, Gozzini Alessia, Sala Silvia, Monte Francesca, Falchetti Alberto, Marini Francesca, Brandi Maria

المصدر: Orphanet Journal of Rare Diseases, Vol 1, Iss 1, p 38 (2006)

مصطلحات موضوعية: Medicine

Relation: http://www.OJRD.com/content/1/1/38; https://doaj.org/toc/1750-1172; https://doaj.org/article/b946f3b6af3c423abc2f661d8e201809

الاتاحة: https://doi.org/10.1186/1750-1172-1-38
https://doaj.org/article/b946f3b6af3c423abc2f661d8e201809

المؤلفون: Martineti, Valentina, Picariello, Lucia, Tognarini, Isabella, Sala, Silvia Carbonell, Gozzini, Alessia, Azzari, Chiara, Mavilia, Carmelo, Tanini, Annalisa, Falchetti, Alberto, Fiorelli, Gianna, Tonelli, Francesco, Brandi, Maria Luisa

مصطلحات موضوعية: Cancer Research, Endocrinology, Oncology, Diabetes and Metabolism

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/195482

الاتاحة: https://www.openaccessrepository.it/record/195482
https://doi.org/10.1677/erc.1.00861

المؤلفون: Falchetti, Alberto, Di Stefano, Marco, Marini, Francesca, Del Monte, Francesca, Gozzini, Alessia, Masi, Laura, Tanini, Annalisa, Amedei, Antonietta, Carossino, Annamaria, Isaia, Giancarlo, Brandi, Maria

Relation: http://arthritis-research.com/content/7/6/R1289

الاتاحة: http://arthritis-research.com/content/7/6/R1289

المؤلفون: Lauretani, Fulvio, Cepollaro, Chiara, Bandinelli, Stefania, Cherubini, Antonio, Gozzini, Alessia, Masi, Laura, Falchetti, Alberto, Del Monte, Francesca, Carbonell-Sala, Silvia, Marini, Francesca, Tanini, Annalisa, Corsi, Anna Maria, Ceda, Gina Paolo, Brandi, Maria Luisa, Ferrucci, Luigi

المصدر: Aging Clinical and Experimental Research ; volume 22, issue 4, page 281-288 ; ISSN 1594-0667 1720-8319

الاتاحة: http://dx.doi.org/10.1007/bf03324935
http://link.springer.com/content/pdf/10.1007/BF03324935.pdf
http://link.springer.com/article/10.1007/BF03324935/fulltext.html
http://link.springer.com/content/pdf/10.1007/BF03324935

المؤلفون: Tognarini, Isabella, Tonelli, Francesco, Nesi, Gabriella, Martineti, Valentina, Galli, Gianna, Gozzini, Alessia, Colli, Emanuela, Zonefrati, Roberto, Paglierani, Milena, Marini, Francesca, Sorace, Sabina, Cavalli, Tiziana, Cavalli, Loredana, Tanini, Annalisa, Brandi, Maria Luisa

المصدر: Cellular Oncology : the Official Journal of the International Society for Cellular Oncology
Cellular Oncology, Vol 32, Iss 5-6, Pp 331-343 (2010)

مصطلحات موضوعية: Adult, Selective Estrogen Receptor Modulators, Antineoplastic Agents, Hormonal, 17β-oestradiol, Cell Culture Techniques, lcsh:RC254-282, Estrogen Receptor Modulators, Cell Line, Tumor, Humans, antioestrogens, lcsh:QH573-671, Fulvestrant, Cell Proliferation, Estradiol, oestrogen receptors, lcsh:Cytology, Estrogens, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Carcinoma, Papillary, Solid pseudopapillary neoplasm of the pancreas, Pancreatic Neoplasms, Tamoxifen, Receptors, Estrogen, Female, Other, SERMs

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c51210c97987249dc296b310c7175e0e
https://pubmed.ncbi.nlm.nih.gov/20364070

المؤلفون: Masi, Laura, Del Monte, Francesca, Gozzini, Alessia, De Feo, Maria Laura, Gionata Gheri, Riccardo, Neri, Annasilvia, Falchetti, Alberto, Amedei, Antonietta, Imbriaco, Rosario, Mavilia, Carmelo, Tanini, Annalisa, Brandi, Maria Luisa

مصطلحات موضوعية: 612.7 Sistema muscoloscheletrico, tegumento

وصف الملف: application/pdf

Relation: http://eprints.bice.rm.cnr.it/4944/1/article.pdf; Masi, Laura and Del Monte, Francesca and Gozzini, Alessia and De Feo, Maria Laura and Gionata Gheri, Riccardo and Neri, Annasilvia and Falchetti, Alberto and Amedei, Antonietta and Imbriaco, Rosario and Mavilia, Carmelo and Tanini, Annalisa and Brandi, Maria Luisa (2007) A novel polymorphism at the GNAS1 gene associated with low circulating calcium levels. Clinical cases in mineral and bone metabolism, 4 (2). pp. 139-145. ISSN 1971-3266

الاتاحة: http://eprints.bice.rm.cnr.it/4944/
http://eprints.bice.rm.cnr.it/4944/1/article.pdf
http://www.ccmbm.com/index.php?PAGE=articolo_dett&ID_ISSUE=258&id_article=2418

المؤلفون: Carossino, Anna Maria, Recenti, Raffaella, Carossino, Roberto, Piscitelli, Elisabetta, Gozzini, Alessia, Martineti, Valentina, Mavilia, Carmelo, Franchi, Alessandro, Danielli, Daniele, Aglietti, Paolo, Ciardullo, Antonio, Galli, Gianna, Tognarini, Isabella, Moggi Pignone, Alberto, Cagnoni, Mario, Brandi, Maria Luisa

المصدر: Biogerontology ; volume 8, issue 5, page 483-498 ; ISSN 1389-5729 1573-6768

الاتاحة: http://dx.doi.org/10.1007/s10522-007-9088-4
http://link.springer.com/content/pdf/10.1007/s10522-007-9088-4.pdf
http://link.springer.com/article/10.1007/s10522-007-9088-4/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10522-007-9088-4

المؤلفون: Silvestri, Sandra, Thomsen, Anne Bloch, Gozzini, Alessia, Bagger, Yu, Christiansen, Claus, Brandi, Maria Luisa

المصدر: Menopause ; volume 13, issue 3, page 451-461 ; ISSN 1072-3714

الاتاحة: http://dx.doi.org/10.1097/01.gme.0000182804.14385.a2
http://journals.lww.com/00006534-200609011-00009