Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Alessandra, Pelle"'
Autor:
Ilaria Persico, Ilaria Fiscarelli, Alessandra Pelle, Michela Faleschini, Barbara Pasini, Anna Savoia, Roberta Bottega
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Somatic mosaicism appears as a recurrent phenomenon among patients suffering from Fanconi anemia (FA), but its direct prognostic significance mostly remains an open question. The clinical picture of FA mosaic subjects could indeed vary from just mild
Externí odkaz:
https://doaj.org/article/d1174727f1fa463db118f91ee4b72093
Autor:
Simona Mellone, Chiara Puricelli, Denise Vurchio, Sara Ronzani, Simone Favini, Arianna Maruzzi, Cinzia Peruzzi, Amanda Papa, Alice Spano, Fabio Sirchia, Giorgia Mandrile, Alessandra Pelle, Paolo Rasmini, Fabiana Vercellino, Andrea Zonta, Ivana Rabbone, Umberto Dianzani, Maurizio Viri, Mara Giordano
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%–5% of children and represents a public health challenge due to complexity of the etiology. Only few patients with unexpl
Externí odkaz:
https://doaj.org/article/edf91342563a4c4b8c9586727480c023
Autor:
Samuele Sutera, Daniela Francesca Giachino, Alessandra Pelle, Roberta Zuntini, Monica Pentenero
Publikováno v:
Biomedicines, Vol 11, Iss 1, p 81 (2022)
PTEN hamartoma tumor syndrome (PHTS), is a spectrum of disorders caused by mutations of PTEN, in which non-cancerous growths, called hamartomas, develop in different areas of the body, often including the oral mucosa. PHTS also implies a recognized i
Externí odkaz:
https://doaj.org/article/55b75fa1801d49d9b01c57e7166d35d2
Autor:
Danilo Caudo, Alessandro Santalco, Carmelo Anfuso, Ylenia, Zullo, Alessandra, Pelle, Caterina, Benedetto, Annalisa, Militi, Viviane Di Dio, Fabio Italiano, Ugo Barbaro
CASE REPORT Primary synovial mediastinal sarcomas are aggressive tumors with a very rare incidence. The few cases reported in the literature presented poor and incomplete imaging. In this report, we describe the case of a 72-year-old male patient hos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86baa81f530dbea12be3828d8d58591
Autor:
Rosa Montone, Giorgia Mandrile, Carolina Conter, Barbara Cellini, Alessandra Pelle, Mirco Dindo, Claudio Costantini, Daniela Giachino
Publikováno v:
Molecular Genetics and Metabolism. 131:171-180
Primary Hyperoxaluria type I (PH1) is a rare disease caused by mutations in the AGXT gene encoding alanine:glyoxylate aminotransferase (AGT), a liver enzyme involved in the detoxification of glyoxylate, the failure of which results in accumulation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0450ffce4b0f922410e6fce7259e6f2
https://doi.org/10.1016/j.ymgme.2020.07.012
https://doi.org/10.1016/j.ymgme.2020.07.012
Publikováno v:
Clinical Dysmorphology. 29:97-100
Deletion of the 1q43q44 chromosomal region has been related to a clinical syndrome characterized by neurodevelopmental delay, intellectual disability, microcephaly, congenital abnormality of the corpus callosum, and epilepsy and dysmorphic features.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4934d23087771faa1313f11f41fe0c82
https://doi.org/10.1097/mcd.0000000000000313
https://doi.org/10.1097/mcd.0000000000000313
Autor:
Giorgia Mandrile, Alessandra Pelle, Veronica Sciannameo, Elisa Benetti, Maria Michela D’Alessandro, Francesco Emma, Giovanni Montini, Licia Peruzzi, Michele Petrarulo, Renato Romagnoli, Corrado Vitale, Barbara Cellini, Daniela Giachino
Background Primary hyperoxalurias (PHs) are rare autosomal recessive diseases of the glyoxylate metabolism; PH1 is caused by mutations in the AGXT gene, PH2 in GRHPR and PH3 in HOGA1. Methods Here we report the first large multi-center cohort of Ital
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a910973284e34dadb22ed20bf774a22
https://hdl.handle.net/11391/1540853
https://hdl.handle.net/11391/1540853
Publikováno v:
Clinical dysmorphology. 30(1)
Pathogenic variants of HIST1H1Egene have recently been associated with a condition known as Rahman syndrome, characterized by overgrowth, intellectual disability and nonspecific dysmorphic features (high hairline, full cheeks, wide nasal bridge). Wid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac595b8f841ec3b8aa94b760cea5a2f
https://pubmed.ncbi.nlm.nih.gov/33086257
https://pubmed.ncbi.nlm.nih.gov/33086257
Autor:
Monica Sorbini, Martina Callegari, Francesca Arruga, Silvia Deaglio, Antonio Amoroso, Tiziana Vaisitti, Simone Baldovino, Daniela Giachino, Dario Roccatello, Silvia Kalantari, Licia Peruzzi, Alessandra Pelle, Roberta Fenoglio, Enrico Cocchi, Silvia Bruna Vanzino, Valeria Bracciamà, Cristiana Rollino
Publikováno v:
Nephrology Dialysis Transplantation. 35
Background and Aims next-generation sequencing (NGS) technologies are becoming a powerful diagnostic tool in precision medicine. Specifically, exome sequencing can help in the diagnosis of selected diseases, in their medical management and therapeuti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::154abbd3014f6fcc289be2182f1d9e73
https://doi.org/10.1093/ndt/gfaa142.p0056
https://doi.org/10.1093/ndt/gfaa142.p0056
Autor:
Patrizia Bertinetto, Tiziana Vaisitti, Dario Roccatello, Michela Tamagnone, Corrado Vitale, Monica Sorbini, Giorgio Soragna, Martina Callegari, Simone Baldovino, Maurizio Borzumati, Daniela Giachino, Silvia Bruna Vanzino, Alessandra Pelle, Enrico Cocchi, Gianluca Leonardi, Roberta Fenoglio, Antonio Amoroso, Emanuela Strampelli, Serena Maroni, Sonia Santi, Loredana Funaro, Silvia Deaglio, Cristiana Rollino, Valentina Berta, Bruno Gianoglio, Luigi Biancone, Valeria Bracciamà, Silvia Kalantari, Licia Peruzzi, G. Calabrese, Francesca Arruga, Maurizio Gherzi, Giusto Viglino
Publikováno v:
Nephrology Dialysis Transplantation. 35
Background and Aims Autosomal dominant PKD determines formation of multiple cysts predominantly in the kidneys and usually becomes symptomatic during adulthood and can lead to renal failure. In contrast, in autosomal recessive PKD cysts occur in both
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e85b0b7aec3e72f4937fcbba3dd3ed9
https://doi.org/10.1093/ndt/gfaa142.p0051
https://doi.org/10.1093/ndt/gfaa142.p0051