Search Results - "Strippoli, Pierluigi"

On the length, weight and GC content of the human genome by Piovesan, Allison, Pelleri, Maria Chiara, Antonaros, Francesca, Strippoli, Pierluigi, Caracausi, Maria, Vitale, Lorenza

“…Basic parameters commonly used to describe genomes including length, weight and relative guanine-cytosine (GC) content are widely cited in absence of a primary…”
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An estimation of the number of cells in the human body by Bianconi, Eva, Piovesan, Allison, Facchin, Federica, Beraudi, Alina, Casadei, Raffaella, Frabetti, Flavia, Vitale, Lorenza, Pelleri, Maria Chiara, Tassani, Simone, Piva, Francesco, Perez-Amodio, Soledad, Strippoli, Pierluigi, Canaider, Silvia

“…Abstract Background: All living organisms are made of individual and identifiable cells, whose number, together with their size and type, ultimately defines…”
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Commentary to the article: an estimation of the number of cells in the human body by Strippoli, Pierluigi, Casadei, Raffaella, Frabetti, Flavia, Vitale, Lorenza, Canaider, Silvia

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A reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes by Locatelli, Chiara, Onnivello, Sara, Gori, Caterina, Ramacieri, Giuseppe, Pulina, Francesca, Marcolin, Chiara, Vianello, Renzo, Vione, Beatrice, Caracausi, Maria, Pelleri, Maria Chiara, Vitale, Lorenza, Pirazzoli, Gian Luca, Cocchi, Guido, Corvaglia, Luigi, Strippoli, Pierluigi, Antonaros, Francesca, Piovesan, Allison, Lanfranchi, Silvia

“…Down syndrome (DS) is characterised by several clinical features including intellectual disability (ID) and craniofacial dysmorphisms. In 1976, Jackson and…”
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One-carbon pathway and cognitive skills in children with Down syndrome by Antonaros, Francesca, Lanfranchi, Silvia, Locatelli, Chiara, Martelli, Anna, Olivucci, Giulia, Cicchini, Elena, Carosi Diatricch, Ludovica, Mannini, Elisa, Vione, Beatrice, Feliciello, Agnese, Ramacieri, Giuseppe, Onnivello, Sara, Vianello, Renzo, Vitale, Lorenza, Pelleri, Maria Chiara, Strippoli, Pierluigi, Cocchi, Guido, Pulina, Francesca, Piovesan, Allison, Caracausi, Maria

“…This work investigates the role of metabolite levels in the intellectual impairment of subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12,…”
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Systematic identification of human housekeeping genes possibly useful as references in gene expression studies by Caracausi, Maria, Piovesan, Allison, Antonaros, Francesca, Strippoli, Pierluigi, Vitale, Lorenza, Pelleri, Maria Chiara

“…The ideal reference, or control, gene for the study of gene expression in a given organism should be expressed at a medium-high level for easy detection,…”
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A molecular view of the normal human thyroid structure and function reconstructed from its reference transcriptome map by Vitale, Lorenza, Piovesan, Allison, Antonaros, Francesca, Strippoli, Pierluigi, Pelleri, Maria Chiara, Caracausi, Maria

“…The thyroid is the earliest endocrine structure to appear during human development, and thyroid hormones are necessary for proper organism development, in…”
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Plasma metabolome and cognitive skills in Down syndrome by Antonaros, Francesca, Ghini, Veronica, Pulina, Francesca, Ramacieri, Giuseppe, Cicchini, Elena, Mannini, Elisa, Martelli, Anna, Feliciello, Agnese, Lanfranchi, Silvia, Onnivello, Sara, Vianello, Renzo, Locatelli, Chiara, Cocchi, Guido, Pelleri, Maria Chiara, Vitale, Lorenza, Strippoli, Pierluigi, Luchinat, Claudio, Turano, Paola, Piovesan, Allison, Caracausi, Maria

“…Trisomy 21 (Down syndrome, DS) is the main human genetic cause of intellectual disability (ID). Lejeune hypothesized that DS could be considered a metabolic…”
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Human protein-coding genes and gene feature statistics in 2019 by Piovesan, Allison, Antonaros, Francesca, Vitale, Lorenza, Strippoli, Pierluigi, Pelleri, Maria Chiara, Caracausi, Maria

“…A well-known limit of genome browsers is that the large amount of genome and gene data is not organized in the form of a searchable database, hampering full…”
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Identification of minimal eukaryotic introns through GeneBase, a user-friendly tool for parsing the NCBI Gene databank by Piovesan, Allison, Caracausi, Maria, Ricci, Marco, Strippoli, Pierluigi, Vitale, Lorenza, Pelleri, Maria Chiara

“…We have developed GeneBase, a full parser of the National Center for Biotechnology Information (NCBI) Gene database, which generates a fully structured local…”
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Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells by Pelleri, Maria Chiara, Cattani, Chiara, Vitale, Lorenza, Antonaros, Francesca, Strippoli, Pierluigi, Locatelli, Chiara, Cocchi, Guido, Piovesan, Allison, Caracausi, Maria

“…Down syndrome (DS) is due to the presence of an extra full or partial chromosome 21 (Hsa21). The identification of genes contributing to DS pathogenesis could…”
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Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms by Antonaros, Francesca, Pitocco, Margherita, Abete, Domenico, Vione, Beatrice, Piovesan, Allison, Vitale, Lorenza, Strippoli, Pierluigi, Caracausi, Maria, Pelleri, Maria Chiara

“…Down syndrome (DS) is caused by trisomy of chromosome 21 and it is the most common genetic cause of intellectual disability (ID) in humans. Subjects with DS…”
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Zinc metabolism and its role in immunity status in subjects with trisomy 21: chromosomal dosage effect by Ramacieri, Giuseppe, Locatelli, Chiara, Semprini, Michela, Pelleri, Maria Chiara, Caracausi, Maria, Piovesan, Allison, Cicilloni, Michela, Vigna, Marco, Vitale, Lorenza, Sperti, Giacomo, Corvaglia, Luigi Tommaso, Pirazzoli, Gian Luca, Strippoli, Pierluigi, Catapano, Francesca, Vione, Beatrice, Antonaros, Francesca

“…Trisomy 21 (T21), which causes Down syndrome (DS), is the most common chromosomal aneuploidy in humankind and includes different clinical comorbidities, among…”
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Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association by Pelleri, Maria Chiara, Locatelli, Chiara, Mattina, Teresa, Bonaglia, Maria Clara, Piazza, Francesca, Magini, Pamela, Antonaros, Francesca, Ramacieri, Giuseppe, Vione, Beatrice, Vitale, Lorenza, Seri, Marco, Strippoli, Pierluigi, Cocchi, Guido, Piovesan, Allison, Caracausi, Maria

“…Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the…”
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The transcriptome profile of human trisomy 21 blood cells by Antonaros, Francesca, Zenatelli, Rossella, Guerri, Giulia, Bertelli, Matteo, Locatelli, Chiara, Vione, Beatrice, Catapano, Francesca, Gori, Alice, Vitale, Lorenza, Pelleri, Maria Chiara, Ramacieri, Giuseppe, Cocchi, Guido, Strippoli, Pierluigi, Caracausi, Maria, Piovesan, Allison

“…Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS),…”
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Down Syndrome: how to communicate the diagnosis by Gori, Caterina, Cocchi, Guido, Corvaglia, Luigi Tommaso, Ramacieri, Giuseppe, Pulina, Francesca, Sperti, Giacomo, Cagnazzo, Valeria, Catapano, Francesca, Strippoli, Pierluigi, Cordelli, Duccio Maria, Locatelli, Chiara

“…Communicating the diagnosis of Down Syndrome to a couple of parents is never easy, whether before or after birth. As doctors, we must certainly rely on our own…”
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Identification of housekeeping genes suitable for gene expression analysis in the zebrafish by Casadei, Raffaella, Pelleri, Maria Chiara, Vitale, Lorenza, Facchin, Federica, Lenzi, Luca, Canaider, Silvia, Strippoli, Pierluigi, Frabetti, Flavia

“…Housekeeping (HK) genes are constitutively expressed in order to maintain cellular function. They produce the minimal essential transcripts necessary for…”
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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21 by Pelleri, Maria Chiara, Cicchini, Elena, Petersen, Michael B., Tranebjærg, Lisbeth, Mattina, Teresa, Magini, Pamela, Antonaros, Francesca, Caracausi, Maria, Vitale, Lorenza, Locatelli, Chiara, Seri, Marco, Strippoli, Pierluigi, Piovesan, Allison, Cocchi, Guido

“…Background Down syndrome (DS) is characterized by the presence of an extra full or partial human chromosome 21 (Hsa21). An invaluable model to define…”
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Corrigendum: One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: relation to chromosomal dosage by Vione, Beatrice, Ramacieri, Giuseppe, Zavaroni, Giacomo, Piano, Angela, La Rocca, Giorgia, Caracausi, Maria, Vitale, Lorenza, Piovesan, Allison, Gori, Caterina, Pirazzoli, Gian Luca, Strippoli, Pierluigi, Cocchi, Guido, Corvaglia, Luigi, Locatelli, Chiara, Pelleri, Maria Chiara, Antonaros, Francesca

“…[This corrects the article DOI: 10.3389/fmed.2022.1006891.]…”
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A quantitative transcriptome reference map of the normal human brain by Caracausi, Maria, Vitale, Lorenza, Pelleri, Maria Chiara, Piovesan, Allison, Bruno, Samantha, Strippoli, Pierluigi

“…We performed an innovative systematic meta-analysis of 60 gene expression profiles of whole normal human brain, to provide a quantitative transcriptome…”
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