Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Giuseppe Santamaria"'
Autor:
Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Abstract Background Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and associated loci h
Externí odkaz:
https://doaj.org/article/7ad0d1de1557413a9509f459abbabbee
Autor:
Tiziana Bachetti, Francesca Rosamilia, Martina Bartolucci, Giuseppe Santamaria, Manuela Mosconi, Serenella Sartori, Maria Rosaria De Filippo, Marco Di Duca, Valentina Obino, Stefano Avanzini, Domenico Mavilio, Simona Candiani, Andrea Petretto, Alessio Pini Prato, Isabella Ceccherini, Francesca Lantieri
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 8, p 3831 (2021)
Hirschsprung (HSCR) Associated Enterocolitis (HAEC) is a common life-threatening complication in HSCR. HAEC is suggested to be due to a loss of gut homeostasis caused by impairment of immune system, barrier defense, and microbiome, likely related to
Externí odkaz:
https://doaj.org/article/9a3f63f7751140d5a280d09bb73d26cd
Autor:
Francesca Lantieri, Michela Malacarne, Stefania Gimelli, Giuseppe Santamaria, Domenico Coviello, Isabella Ceccherini
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 3, p 609 (2017)
The presence of false positive and false negative results in the Array Comparative Genomic Hybridization (aCGH) design is poorly addressed in literature reports. We took advantage of a custom aCGH recently carried out to analyze its design performanc
Externí odkaz:
https://doaj.org/article/f06c6fc81bd64de3a91d25f9d25abe91
Autor:
Marco Di Duca, Antonella Lezo, Marta Pongiglione, Maria Immacolata Spagnuolo, Margherita Lerone, Girolamo Mattioli, Antonella Diamanti, Daniele Alberti, Alessio Pini Prato, Ivana Matera, Giuseppe Santamaria, Domenico Bordo, Paolo Gandullia, Isabella Ceccherini
Publikováno v:
Clinical Genetics. 99:430-436
Variants in the ACTG2 gene, encoding a protein crucial for correct enteric muscle contraction, have been found in patients affected with chronic intestinal pseudo-obstruction, either congenital or late-onset visceral myopathy, and megacystis-microcol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1250e381a865ef6ecf733c2bba7f8c00
https://doi.org/10.1111/cge.13895
https://doi.org/10.1111/cge.13895
Autor:
Stefano Avanzini, Andrea Petretto, Serenella Sartori, Giuseppe Santamaria, Marco Di Duca, Maria R. De Filippo, Manuela Mosconi, Martina Bartolucci, Francesca Rosamilia, Simona Candiani, Domenico Mavilio, Alessio Pini Prato, Tiziana Bachetti, Francesca Lantieri, Valentina Obino, Isabella Ceccherini
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 3831, p 3831 (2021)
Web of Science
Volume 22
Issue 8
International Journal of Molecular Sciences, Vol 22, Iss 3831, p 3831 (2021)
Web of Science
Volume 22
Issue 8
Hirschsprung (HSCR) Associated Enterocolitis (HAEC) is a common life-threatening complication in HSCR. HAEC is suggested to be due to a loss of gut homeostasis caused by impairment of immune system, barrier defense, and microbiome, likely related to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f66b0a5f3f9f4a603cc53b576ce45f89
http://europepmc.org/articles/PMC8067804
http://europepmc.org/articles/PMC8067804
Autor:
Giovanni Spirito, Roberta Caorsi, Stefano Volpi, Sara Signa, Stefano Gustincich, Remo Sanges, Francesco Pasetti, Francesca Schena, Isabella Ceccherini, Patrizia Barone, Marta Rusmini, Riccardo Papa, Elisabetta Traggiai, Andrea Cavalli, Maria C Coccia, Angelo Ravelli, Giuseppe Santamaria, Diego Vozzi, Serena Arrigo, Marco Gattorno
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare immune dysregulation syndrome caused by somatic gain-of-function mutations of either NRAS or KRAS gene in hematopoietic cells. We describe a 27-year-old patient presenting at 5 mon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63cd5f9c055203bd0d469e4a279735cf
http://hdl.handle.net/11567/1078868
http://hdl.handle.net/11567/1078868
Autor:
Alessio Pini Prato, Chiara Viaggi, Giuseppe Santamaria, Francesca Lantieri, Domenico Coviello, Manuela Mosconi, Stefania Gimelli, Michela Malacarne, Alice Grossi, Isabella Ceccherini, Elissavet Stathaki, Frédérique Sloan-Béna
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and associated loci have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24b0647fe9e1fb8c7ca67ce7a83ff57e
https://doi.org/10.1186/s13023-019-1205-3
https://doi.org/10.1186/s13023-019-1205-3
Autor:
Isabella Ceccherini, Giuseppe Santamaria, Domenico A. Coviello, Michela Malacarne, Francesca Lantieri, Stefania Gimelli
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 18, Iss 3, p 609 (2017)
International Journal of Molecular Sciences; Volume 18; Issue 3; Pages: 609
International Journal of Molecular Sciences, Vol 18, Iss 3, p 609 (2017)
International Journal of Molecular Sciences; Volume 18; Issue 3; Pages: 609
The presence of false positive and false negative results in the Array Comparative Genomic Hybridization (aCGH) design is poorly addressed in literature reports. We took advantage of a custom aCGH recently carried out to analyze its design performanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e9bda9920e99dd279f689992f3e2ed
http://europepmc.org/articles/PMC5372625
http://europepmc.org/articles/PMC5372625
Autor:
Isabella Ceccherini, Giuseppe Santamaria, Francesca Antonini, Anna Rubartelli, Rita Consolini, Ryuta Nishikomori, Federica Penco, Denise Lasigliè, Francesca Santarelli, Marco Di Duca, Antonella Insalaco, Genny Del Zotto, Marco Cattalini, Juan I. Aróstegui, Denise Ferrera, Mariasavina Severino, Alberto Martini, Giulia Amico, Anna Mensa-Vilaro, Marco Gattorno, Roberto Ravazzolo, Laura Obici, Kenji Nakagawa, Silvia Borghini, Roberta Caorsi, Alberto Tommasini, Romina Gallizzi
Objective.To evaluate the rate of somatic NLRP3 mosaicism in an Italian cohort of mutation-negative patients with cryopyrin-associated periodic syndrome (CAPS).Methods.The study enrolled 14 patients with a clinical phenotype consistent with CAPS in w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c7893d277729fe5191b8c11b6e589a5
http://hdl.handle.net/11570/3121587
http://hdl.handle.net/11570/3121587
Autor:
Silvia Borghini, Marco Gattorno, Michele Fiore, Isabella Ceccherini, Giuseppe Santamaria, Federico Bua, Marco Di Duca, Alberto Martini, Laura Obici, Martina Finetti, Francesco Caroli, Francesca Ferlito, Paolo Picco
Publikováno v:
The Journal of Rheumatology. 38:1378-1384
Objective.Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant multisystemic autoinflammatory condition. Patients display different mutations of the TNF receptor superfamily 1A gene (TNFRSF1A), coding for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0570f18cf332b2a5e82c99d334df42b8
https://doi.org/10.3899/jrheum.101260
https://doi.org/10.3899/jrheum.101260