Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Alessandro Giacomina"'
Autor:
Alessia Dattilo, Giovanni Ceccarini, Gaia Scabia, Silvia Magno, Lara Quintino, Caterina Pelosini, Guido Salvetti, Roberto Cusano, Matteo Massidda, Lucia Montanelli, Donatella Gilio, Gianluca Gatti, Alessandro Giacomina, Mario Costa, Ferruccio Santini, Margherita Maffei
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Lipodystrophy (LD) indicates a group of rare disorders, with generalized or partial loss of white adipose tissue (WAT) often associated with metabolic derangements. Heterogeneity/wide spectrum of the disease and lack of biomarkers make diagnosis ofte
Externí odkaz:
https://doaj.org/article/d1cc9545f2194f4fad31cf00d5eb0f0c
Autor:
Maria Rita Sessa, Gian Luca Gatti, Anna Rubegni, Giovanni Ceccarini, Ferruccio Santini, Silvia Magno, Andrea Barison, Iacopo Fabiani, Caterina Pelosini, Michele Emdin, Donatella Gilio, Alessandro Giacomina, Filippo M. Santorelli
Publikováno v:
Journal of Clinical Medicine
Volume 10
Issue 5
Journal of Clinical Medicine, Vol 10, Iss 1142, p 1142 (2021)
Volume 10
Issue 5
Journal of Clinical Medicine, Vol 10, Iss 1142, p 1142 (2021)
Laminopathies are disorders caused by LMNA gene mutations, which selectively affect different tissues and organ systems, and present with heterogeneous clinical and pathological traits. The molecular mechanisms behind these clinical differences and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f4a11a6f61072342f0d3e2ada85dcd9
http://europepmc.org/articles/PMC7963176
http://europepmc.org/articles/PMC7963176
Autor:
Veronica Bertini, Francesca Cambi, Alessandro Giacomina, Benedetta Toschi, Gian Luca Gatti, Alessia Azzarà, Silvano Bertelloni, Angelo Valetto, Simone Gana, Maria A. Caligo, Fulvia Baldinotti
Publikováno v:
Molecular Syndromology. 10:147-153
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is due to heterozygous FOXL2 intragenic mutations in about 70% of the patients, whereas total or partial gene deletions account for a minority of cases. Alteration of FOXL2 regulatory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80c62fdfaf29c544f15b301e1758c645
https://doi.org/10.1159/000497092
https://doi.org/10.1159/000497092
Autor:
Veronica, Bertini, Angelo, Valetto, Fulvia, Baldinotti, Alessia, Azzarà, Francesca, Cambi, Benedetta, Toschi, Alessandro, Giacomina, Gian L, Gatti, Simone, Gana, Maria A, Caligo, Silvano, Bertelloni
Publikováno v:
Molecular syndromology. 10(3)
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is due to heterozygous FOXL2 intragenic mutations in about 70% of the patients, whereas total or partial gene deletions account for a minority of cases. Alteration of FOXL2 regulatory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f592e42fc9538926eb27efecc293b8aa
https://pubmed.ncbi.nlm.nih.gov/31191203
https://pubmed.ncbi.nlm.nih.gov/31191203
Publikováno v:
The Journal of craniofacial surgery. 28(8)
Introduction Cleft lip and palate is the most frequent congenital craniofacial deformity. In this article, the authors describe their experience with cleft lip and palate repair. Methods Data regarding patients presenting with primary diagnosis of cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4745bf21bd54df0b4d284895ca402727
https://pubmed.ncbi.nlm.nih.gov/29088690
https://pubmed.ncbi.nlm.nih.gov/29088690
Autor:
Andrea Sisti, Nicola Freda, Luca Rosato, Marco Stabile, Bruno Balmelli, Gian Luca Gatti, Roland Boileau, Alessandro Giacomina
Publikováno v:
The Journal of craniofacial surgery. 28(5)
The authors present a clinical report of deforming mucocutaneous leishmaniasis of the nose in a native American woman, left untreated for 25 years. The nose was reconstructed using the local tissue displaced as flaps, and using cartilage grafts taken
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aa9f8f38310e2c0fc7768bf21d9881b
https://pubmed.ncbi.nlm.nih.gov/28538073
https://pubmed.ncbi.nlm.nih.gov/28538073
Publikováno v:
The Journal of craniofacial surgery. 28(3)
Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44159180587e3d08fbe71e7ae60eb967
https://pubmed.ncbi.nlm.nih.gov/28468208
https://pubmed.ncbi.nlm.nih.gov/28468208
Publikováno v:
Plastic and reconstructive surgery. 140(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2c5610f58453cda6696f8915b040438
https://pubmed.ncbi.nlm.nih.gov/28406818
https://pubmed.ncbi.nlm.nih.gov/28406818
Publikováno v:
Plastic and reconstructive surgery. 139(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e803fcc075f095529308193d469d27
https://pubmed.ncbi.nlm.nih.gov/27556757
https://pubmed.ncbi.nlm.nih.gov/27556757
Autor:
Davide Lazzeri, Maurizio De Rosa, Pietro Massei, Alessandro Giacomina, Giordano Giannotti, Livio Colizzi, Marcello Pantaloni, Tommaso Agostini
Publikováno v:
Journal of Craniofacial Surgery. 21:1957-1960
Primary malignant melanoma involving the nasal and paranasal sinus mucosa is a rare neoplasm, accounting for less than 1% of all melanomas. Being more aggressive than its cutaneous counterpart, it carries a poor prognosis. We report a case arising fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6b47e98b2c275143891ea9d44b9605
https://doi.org/10.1097/scs.0b013e3181f4eee6
https://doi.org/10.1097/scs.0b013e3181f4eee6