Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Carmelilia De Bernardo"'
Autor:
Irene Bottillo, Daniela D’Angelantonio, Viviana Caputo, Alessandro Paiardini, Martina Lipari, Carmelilia De Bernardo, Silvia Majore, Marco Castori, Elisabetta Zachara, Federica Re, Paola Grammatico
Publikováno v:
Data in Brief, Vol 7, Iss , Pp 607-613 (2016)
Genomic technologies are redefining the understanding of genotype–phenotype relationships and over the past decade, many bioinformatics algorithms have been developed to predict functional consequences of single nucleotide variants. This article pr
Externí odkaz:
https://doaj.org/article/d58b4d23c74d4869a07aad78f3382959
Autor:
Marco Andreani, Francesca Clementina Radio, Manuela Testi, Carmelilia De Bernardo, Maria Troiano, Silvia Majore, Pierfrancesco Bertucci, Paola Polchi, Renata Rosati, Paola Grammatico
Publikováno v:
Haematologica, Vol 94, Iss 9 (2009)
Hepcidin is a 25-amino acid peptide, derived from cleavage of an 84 amino acid pro-peptide produced predominantly by hepatocytes. This molecule, encoded by the hepcidin antimicrobial peptide (HAMP) gene shows structural and functional properties cons
Externí odkaz:
https://doaj.org/article/0b528738e95a485d961b79a8c47d4773
Autor:
Alessandra Iorio, Anna Carbone, Laura Eibenschutz, Alessandro Paiardini, Pierluigi Buccini, Michele Valiante, Carmelilia De Bernardo, Angela Ferrari, Paola Grammatico, Isabella Sperduti, Paola De Simone, Paolo Piemonte, Pasquale Frascione, Daniela D'Angelantonio, Irene Bottillo, Silvia Majore, Tiziana Valentini, Vitaliano Silipo
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 9432, p 9432 (2020)
International Journal of Molecular Sciences, Vol 21, Iss 9432, p 9432 (2020)
Background. Cutaneous malignant melanoma (CMM) is one of the most common skin cancers worldwide. CMM pathogenesis involves genetic and environmental factors. Recent studies have led to the identification of new genes involved in CMM susceptibility: b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54c894e44574aaced3dc996debc7bf3
https://pubmed.ncbi.nlm.nih.gov/33322357
https://pubmed.ncbi.nlm.nih.gov/33322357
Autor:
Viola Barucca, Daniela Iacono, Maria Cristina Macciomei, Roberto Luca Meniconi, Salvatore De Marco, Carmelilia De Bernardo, Andrea Mancuso, Paola Grammatico, Carlo Garufi, Giuseppe Maria Ettorre
Publikováno v:
Journal of Clinical Oncology. 39:e16240-e16240
e16240 Background: Germline pathogenetic mutations in BRCA1/2 genes are described in pancreatic cancer patients (PCP) in about 5–9% of cases. The purpose of this study was to determine their relevance in an unselected consecutive cohort of PCP desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b4425c80bbbf6d232fafcc08a8e6033
https://doi.org/10.1200/jco.2021.39.15_suppl.e16240
https://doi.org/10.1200/jco.2021.39.15_suppl.e16240
Autor:
Daniela D'Angelantonio, Irene Bottillo, Marco Castori, Antonio Pizzuti, Diana Giannarelli, Elisabetta Zachara, Carmelilia De Bernardo, Alessandro Paiardini, Federica Re, Viviana Caputo, Paola Grammatico, Silvia Majore, Martina Lipari
Publikováno v:
Gene. 577:227-235
Background Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers. Several genes encoding heart sarcomeric proteins have been assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d734f080f5c04bfa278788df829d8323
https://doi.org/10.1016/j.gene.2015.11.048
https://doi.org/10.1016/j.gene.2015.11.048
Autor:
Sabrina Di Bartolomeo, Marianna De Muro, Francesca Clementina Radio, Michele Valiante, Andrea Cortese, Fabio Polticelli, Carmelilia De Bernardo, Paola Grammatico, Giovanni Musci, Silvia Majore, Fiorella Faienza, Maria Carmela Bonaccorsi di Patti
Mutations of SLC40A1 encoding ferroportin (Fpn), the unique cellular iron exporter, severely affect iron homeostasis causing type 4 hereditary hemochromatosis, an autosomal dominant iron overload condition with variable phenotypic manifestations. Thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5564571ee1851f62d89b0164040e5361
http://hdl.handle.net/11573/1028998
http://hdl.handle.net/11573/1028998
Autor:
Carmelilia De Bernardo, Giovanna Scassellati Sforzolini, Daniela D'Angelantonio, Silvia Morlino, Irene Bottillo, Marco Castori, Paola Grammatico, Evelina Silvestri
Publikováno v:
Molecular Syndromology. 5:241-244
Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0a1c711388b526bae4ab3129b26aa6b
https://doi.org/10.1159/000365769
https://doi.org/10.1159/000365769
Autor:
Adele D'Amico, Daniela D'Angelantonio, Diana Giannarelli, Giulia d'Amati, Silvia Majore, Martina Lipari, Enrico Bertini, Bruna Cerbelli, Carmelilia De Bernardo, Francesco Musumeci, Laura Masuelli, Federica Re, Taisia Polidori, Carla Giordano, Irene Bottillo, Andrea Avella, Paola Grammatico, Elisabetta Zachara
Publikováno v:
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology. 25(5)
Background Danon disease (DD) is a rare disorder characterized by cardiomyopathy, intellectual disability, and proximal myopathy. It is caused by mutations in the LAMP2 gene on X chromosome. Female patients most often present with late-onset cardiomy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44dc4b438e23e67531404ca41b4f031a
https://pubmed.ncbi.nlm.nih.gov/27497751
https://pubmed.ncbi.nlm.nih.gov/27497751
Autor:
Maria Cristina Mazzilli, Giacinto Marrocco, Ferdinando Valentini, Francesca Megiorni, Giorgio Maggiulli, Daniele Remotti, Carmelilia De Bernardo, Pietro Saccucci, Sara Tomaselli, Paola Grammatico, Aldo Felici, Silvia Majore, Barbara Grammatico
Publikováno v:
Human Mutation. 29:220-226
XX true hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af270de95d341eecd2b4bfbac7fd482c
https://doi.org/10.1002/humu.20665
https://doi.org/10.1002/humu.20665
Autor:
Sara Bernabini, Caterina Aurizi, Francesca Clementina Radio, Diana Giannarelli, Fiammetta Sorge, G. Biolcati, Carmelilia De Bernardo, Irene Giotti, Silvia Majore, Francesca Torricelli, Paola Grammatico
Publikováno v:
Blood cells, moleculesdiseases. 55(1)
Hereditary hemochromatosis (HH) is a heterogeneous disorder of iron metabolism. The most common form of the disease is Classic or type 1 HH, mainly caused by a biallelic missense p.Cys282Tyr (c.845G>A) mutation in the HFE gene. However, the penetranc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7838598edefaa78f948e14fffba5161c
https://pubmed.ncbi.nlm.nih.gov/25976471
https://pubmed.ncbi.nlm.nih.gov/25976471