Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Alba, Pilotta"'
Autor:
Giulia Sbrini, Zaira Tomasoni, Maria Rosa Cutrì, Alba Pilotta, Chiara Mingotti, Raffaele Badolato, Luca La Via, Alessandro Barbon, Federica Bono, Chiara Fiorentini
Publikováno v:
Stem Cell Research, Vol 74, Iss , Pp 103293- (2024)
We have established Noonan syndrome (NS)-derived induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) of a family cohort carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation. The new iPSC lines
Externí odkaz:
https://doaj.org/article/aee40349e31e43ecb048ec38c4a60166
Autor:
Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-8 (2019)
Abstract Background Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate mo
Externí odkaz:
https://doaj.org/article/baad0fff401c40fabb59d9e3e75bf2e8
Autor:
Martina, Goffredo, Alba, Pilotta, Ilaria, Parissenti, Concetta, Forino, Cesare, Tomasi, Paolo, Goffredo, Fabio, Buzi, Raffaele, Badolato
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 36:290-298
Objectives During COVID-19 pandemic lockdown, reports of evaluations for suspected precocious puberty significantly raised. We aimed to assess the increase of precocious puberty in patients referred to Pediatric Endocrinology Units of Brescia (Italy)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::744d0da0b6fa8ba398a436e5426d0148
https://doi.org/10.1515/jpem-2022-0492
https://doi.org/10.1515/jpem-2022-0492
Autor:
Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Marco Tartaglia
Publikováno v:
Genes; Volume 13; Issue 11; Pages: 2163
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndromes, and a de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03af3c43b81fe73d69ff93ad49596bda
Autor:
Marica Monica, Benedetto Falsini, Matteo Bertelli, Giancarlo Iarossi, Elena Manara, Paolo Enrico Maltese, Alba Pilotta, Balzarini Marta, Luca Buzzonetti, Luca Rossetti, Loredana Boccone, Leonardo Colombo, Giulia Guerri, Fabiana D'Esposito, Lucia Ziccardi, Stefano Paolacci, Andi Abeshi
Publikováno v:
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-8 (2019)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Background Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c35031db5acf1ddbedde86b97190f9
http://link.springer.com/article/10.1186/s13052-019-0659-1
http://link.springer.com/article/10.1186/s13052-019-0659-1
Autor:
Alba Pilotta, Vincenzo Villanacci, Giulio Gualdi, Elena Prandi, Giulia Ingrasciotta, Chiara Monfredini, Andrea Caravaggio, Laura Ruggeri, Annarosa Soresina, Vassilios Lougaris, Antonella Meini, Alessandro Plebani, Raffaele Badolato, Alberto Ravelli, Tiziana Lorenzini, Maurizio Fuoti, Barbara Felappi, Marco Cattalini, Antonella Fabiano, Livia Grazzani, A. Salpietro, Manuela Baronio, Annamaria Sorlini
Publikováno v:
Journal of Clinical Immunology. 39:470-475
Selective IgA deficiency (SIgAD) is the most common humoral primary immunodeficiency. Long-term follow-up data in large cohort of pediatric patients are scarce. We report on a single-center cohort of 184 pediatric patients affected with selective IgA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a6365594f3f98eeba285f00d76c19cc
https://doi.org/10.1007/s10875-019-00647-y
https://doi.org/10.1007/s10875-019-00647-y
Autor:
Erica Rosina, Lidia Pezzani, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Alba Pilotta, Olga Calabrese, Emanuele Nicastro, Francesco Cirillo, Anna Cereda, Agnese Scatigno, Donatella Milani, Maria Iascone
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1275
In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the diagnostic process for patients with rare genetic syndromes, demonstrating its potential even in non-specific clinical pictures and in atypical presentations of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b9386a0aef340b374e2e5894537d388
https://doi.org/10.3390/genes13071275
https://doi.org/10.3390/genes13071275
Autor:
Giovanna Weber, Lorenzo Iughetti, Barbara Predieri, Graziano Grugni, Maurizio Delvecchio, Giulia Vivi, Alessandro Salvatoni, Antonio Balsamo, Malgorzata Wasniewska, Nella Augusta Greggio, Antonino Crinò, Luigi Gargantini, Uros Hladnik, L. Ragusa, Andrea Corrias, Alba Pilotta
Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalitie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff305fada9966a7891dd2fcfaa84fa3
http://www.reference-global.com/loi/jpem
http://www.reference-global.com/loi/jpem
Autor:
Lidia Larizza, Silvia Spena, Angelo Selicorni, Cristina Gervasini, Nursel Elcioglu, Patrizia Colapietro, Luigina Spaccini, A. Ficcadenti, F. Bedeschi, Gloria Negri, Donatella Milani, Alba Pilotta, Daniela Rusconi, G. Scarano, Cinzia Magnani
Publikováno v:
Clinical Genetics. 88:431-440
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP (ap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb005cbbc9515b80c399afa4444149ed
https://doi.org/10.1111/cge.12537
https://doi.org/10.1111/cge.12537
Autor:
Alba Pilotta, Carmine Tinelli, Fabio Buzi, Giulia Genoni, Mauro Bozzola, Cristina Meazza, Giovanni Farello, Sara Pagani, Chiara Gertosio, Gianni Bona
Publikováno v:
Minerva endocrinologica. 42(4)
BACKGROUND Patients with childhood-onset GH deficiency (GHD) are usually retested after achievement of near final height, to verify whether they need to continue GH treatment. We investigated if GH stimulation test is necessary to confirm a persisten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b64dfdcc069746f62dfa543e1f0fc884
https://pubmed.ncbi.nlm.nih.gov/27304071
https://pubmed.ncbi.nlm.nih.gov/27304071