Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Lucia Tiberi"'
Autor:
Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi
Publikováno v:
Endocrine Connections, Vol 13, Iss 10, Pp 1-9 (2024)
Context: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes an inherited mitochondrial disease with significant genetic and phenotypic heterog
Externí odkaz:
https://doaj.org/article/da9af13106284280995323cb873fffae
Autor:
Giacomo M. Bacci, Elisa Marziali, Sara Bargiacchi, Michel Paques, Gianni Virgili, Pina Fortunato, Marine Durand, Camilla Rocca, Angelica Pagliazzi, Viviana Palazzo, Lucia Tiberi, Debora Vergani, Samuela Landini, Angela Peron, Rosangela Artuso, Bianca Pacini, Monica Stabile, Andrea Sodi, Roberto Caputo
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal hypoplasia with stable fixation and good visual acuity using multimodal imaging techniq
Externí odkaz:
https://doaj.org/article/a46dacc4911b458c8c47605a52a68f87
Autor:
Enrico Attardi, Lucia Tiberi, Giorgio Mattiuz, Daniela Formicola, Elia Dirupo, Marco G. Raddi, Angela Consagra, Debora Vergani, Rosangela Artuso, Valeria Santini
Publikováno v:
HemaSphere, Vol 8, Iss 7, Pp n/a-n/a (2024)
Abstract Relevance of germline (GL) predisposition in myelodysplastic syndromes (MDSs) was stressed in both 2022 WHO and International Consensus classifications, but its incidence is probably underestimated, especially in young adult patients. We sel
Externí odkaz:
https://doaj.org/article/8244675dc45a41b6adc6132cf175fa7d
Autor:
Boaz Palterer, Lorenzo Salvati, Manuela Capone, Valentina Mecheri, Laura Maggi, Alessio Mazzoni, Lorenzo Cosmi, Nila Volpi, Lucia Tiberi, Aldesia Provenzano, Sabrina Giglio, Paola Parronchi, Giandomenico Maggiore, Oreste Gallo, Alessandro Bartoloni, Francesco Annunziato, Lorenzo Zammarchi, Francesco Liotta
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
X-linked hyper-IgM (XHIGM) syndrome is caused by mutations of the CD40LG gene, encoding the CD40L protein. The clinical presentation is characterized by early-onset infections, with profound hypogammaglobulinemia and often elevated IgM, susceptibilit
Externí odkaz:
https://doaj.org/article/2e57030a27d244f1893271041a33dc56
Autor:
Camilla Rocca, Lucia Tiberi, Sara Bargiacchi, Viviana Palazzo, Samuela Landini, Elisa Marziali, Roberto Caputo, Francesca Tinelli, Viviana Marchi, Alessandro Benedetto, Angelica Pagliazzi, Giacomo Maria Bacci
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 14, p 7825 (2022)
Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients c
Externí odkaz:
https://doaj.org/article/cd93a99945c64a1cafcafd6c98e8b3c8
Autor:
Viviana Palazzo, Valentina Raglianti, Samuela Landini, Luigi Cirillo, Carmela Errichiello, Elisa Buti, Rosangela Artuso, Lucia Tiberi, Debora Vergani, Elia Dirupo, Paola Romagnani, Benedetta Mazzinghi, Francesca Becherucci
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 10, p 5641 (2022)
Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies, whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype–phenotype correlations have important implications in defining kidn
Externí odkaz:
https://doaj.org/article/2818652bb5fd4be39dacea57167e3e44
Autor:
Francesca Becherucci, Samuela Landini, Viviana Palazzo, Luigi Cirillo, Valentina Raglianti, Gianmarco Lugli, Lucia Tiberi, Elia Dirupo, Stefania Bellelli, Tommaso Mazzierli, Jacopo Lomi, Fiammetta Ravaglia, Giulia Sansavini, Marco Allinovi, Domenico Giannese, Chiara Somma, Giuseppe Spatoliatore, Debora Vergani, Rosangela Artuso, Alberto Rosati, Calogero Cirami, Pietro Claudio Dattolo, Gesualdo Campolo, Letizia De Chiara, Laura Papi, Augusto Vaglio, Elena Lazzeri, Hans-Joachim Anders, Benedetta Mazzinghi, Paola Romagnani
Publikováno v:
Journal of the American Society of Nephrology. 34:706-720
Autor:
Enrico Attardi, Immacolata Andolfo, Roberta Russo, Lucia Tiberi, Marco Gabriele Raddi, Barbara Eleni Rosato, Roberta Marra, Daniela Formicola, Federica Del Giudice, Alice Brogi, Angela Consagra, Cristina Amato, Alessandro Sanna, Rosangela Artuso, Achille Iolascon, Valeria Santini
Publikováno v:
American Journal of Hematology. 98
Autor:
Francesca Becherucci, Luigi Cirillo, Samuela Landini, Viviana Palazzo, Valentina Raglianti, Gianmarco Lugli, Lucia Tiberi, Augusto Vaglio, Hans-Joachim Anders, Benedetta Mazzinghi, Paola Romagnani
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND AND AIMS With the spread of whole-exome sequencing techniques (WES), genetic kidney diseases are increasingly recognized across all age groups. However, accessibility, interpretation of results and costs limit the widespread of genomics us
Autor:
Luigi Cirillo, Francesca Becherucci, Stefania Bellelli, Benedetta Mazzinghi, Valentina Raglianti, Gianmarco Lugli, Samuela Landini, Viviana Palazzo, Lucia Tiberi, Augusto Vaglio, Hans-Joachim Anders, Paola Romagnani
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND AND AIMS In the last decade, the use of whole-exome sequencing techniques (WES) has provided many insights into inherited kidney diseases that are thought to represent at least 10%–15% of cases of end-stage CKD [1]. However, among others