Risultati ricerca pubblicazioni

Evaluation of polygenic determinants of non-alcoholic fatty liver disease (NAFLD) by a candidate genes resequencing strategy

pubblicato su: SCIENTIFIC REPORTS - 2018

Di Costanzo A, Belardinilli F, Bailetti D, Sponziello M, D'Erasmo L, Polimeni L, Baratta F, Pastori D, Ceci F, Montali A, Girelli G, De Masi B, Angeloni A, Giannini G, Del Ben M, Angelico F, Arca M

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

pubblicato su: AMERICAN JOURNAL OF HUMAN GENETICS - 2018

Bauer Christiane K., Calligari Paolo, Radio Francesca Clementina, Caputo Viviana, Dentici Maria Lisa, Falah Nadia, High Frances, Pantaleoni Francesca, Barresi Sabina, Ciolfi Andrea, Pizzi Simone, Bruselles Alessandro, Person Richard, Richards Sarah, Cho Megan T., Claps Sepulveda Daniela J., Pro Stefano, Battini Roberta, Zampino Giuseppe, Digilio Maria Cristina, Bocchinfuso Gianfranco, Dallapiccola Bruno, Stella Lorenzo, Tartaglia Marco

Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142]

pubblicato su: MOLECULAR GENETICS AND METABOLISM - 2018

di Salvo Martino L., Mastrangelo Mario, Nogués Isabel, Tolve Manuela, Paiardini Alessandro, Carducci Carla, Mei Davide, Montomoli Martino, Tramonti Angela, Guerrini Renzo, Contestabile Roberto, Leuzzi Vincenzo

Interferon lambda4 polymorphism is not associated with human papillomavirus infection outcome

pubblicato su: VIRUS GENES - 2018

Cannella Fabiana, Scagnolari Carolina, Statzu Maura, Sciandra Ilaria, Recine Nadia, D’Ettorre Gabriella, Antonelli Guido, Pierangeli Alessandra

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

pubblicato su: EUROPEAN JOURNAL OF HUMAN GENETICS - 2018

D’Andrea Elvira, Lagerberg Tyra, de Vito Corrado, Pitini Erica, Marzuillo Carolina, Massimi Azzurra, Vacchio Maria Rosaria, Grammatico Paola, Villari Paolo

Clonal Analysis Delineates Transcriptional Programs of Osteogenic and Adipogenic Lineages of Adult Mouse Skeletal Progenitors

pubblicato su: STEM CELL REPORTS - 2018

Rostovskaya Maria, Donsante Samantha, Sacchetti Benedetto, Alexopoulou Dimitra, Klemroth Sylvia, Dahl Andreas, Riminucci Mara, Bianco Paolo, Anastassiadis Konstantinos

Inflammatory Responses and Barrier Function of Endothelial Cells Derived from Human Induced Pluripotent Stem Cells

pubblicato su: STEM CELL REPORTS - 2018

Halaidych Oleh V., Freund Christian, van den Hil Francijna, Salvatori Daniela C. F., Riminucci Mara, Mummery Christine L., Orlova Valeria V.

Iron Age Italic population genetics: the Piceni from Novilara (8thâ7th century BC)

pubblicato su: ANNALS OF HUMAN BIOLOGY - 2018

Serventi Patrizia, Panicucci Chiara, Bodega Roberta, De Fanti Sara, Sarno Stefania, Fondevila Alvarez Manuel, Brisighelli Francesca, Trombetta Beniamino, Anagnostou Paolo, Ferri Gianmarco, Vazzana Antonino, Delpino Chiara, Gruppioni Giorgio, Luiselli Donata, Cilli Elisabetta

Metabolomics: Challenges and opportunities in systems biology studies

pubblicato su: Methods in Molecular Biology - 2018

Casadei Luca, Valerio Mariacristina, Manetti Cesare

KAT3B-p300 and H3AcK18/H3AcK14 levels are prognostic markers for kidney ccRCC tumor aggressiveness and target of KAT inhibitor CPTH2

pubblicato su: CLINICAL EPIGENETICS - 2018

Cocco Elisa, Leo Manuela, Canzonetta Claudia, Di Vito Serena, Mai Antonello, Rotili Dante, Di Napoli Arianna, Vecchione Andrea, De Nunzio Cosimo, Filetici Patrizia, Stoppacciaro Antonella

Pectic enzymes as potential enhancers of ascorbic acid production through the D-galacturonate pathway in Solanaceae

pubblicato su: PLANT SCIENCE - 2018

Rigano Maria Manuela, Lionetti Vincenzo, Raiola Assunta, Bellincampi Daniela, Barone Amalia

Expression analysis of HLA-E and NKG2A and NKG2C receptors points at a role for natural killer function in ankylosing spondylitis

pubblicato su: RMD OPEN - 2018

Cauli A, Dessole G, Piga M, Angioni Mm, Pinna S, Floris A, Congia M, Mascia E, Paladini F, Tedeschi V, Sorrentino R, Fiorillo Mt, Mathieu A.

An improved microsatellite panel to assess genetic variability of the Italian smooth newt (Lissotriton vulgaris meridionalis)

pubblicato su: JOURNAL OF GENETICS - 2018

Buono Vincenzo, Galliani Giorgia, Mancini Emiliano, Davoli Francesca, Mengoni Chiara, Mucci Nadia, Vignoli Leonardo

A multilocus view on Mediterranean aeolid nudibranchs (Mollusca): Systematics and cryptic diversity of Flabellinidae and Piseinotecidae

pubblicato su: MOLECULAR PHYLOGENETICS AND EVOLUTION - 2018

Furfaro Giulia, Salvi Daniele, Mancini Emiliano, Mariottini Paolo

Cellular models for the serpinopathies

pubblicato su: Methods in Molecular Biology - 2018

Fra Annamaria, D'Acunto Emanuela, Laffranchi Mattia, MIRANDA BANOS MARIA ELENA

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2018

Unolt Marta, Versacci Paolo, Anaclerio Silvia, Lambiase Caterina, Calcagni Giulio, Trezzi Matteo, Carotti Adriano, Crowley Terrence Blaine, Zackai Elaine H., Goldmuntz Elizabeth, Gaynor James William, Digilio Maria Cristina, Mcdonald-Mcginn Donna M., Marino Bruno

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

pubblicato su: EUROPEAN JOURNAL OF MEDICAL GENETICS - 2018

Unolt Marta, Barry Jessica, Digilio Maria Cristina, Marino Bruno, Bassett Anne, Oechslin Erwin, Low David W., Belasco Jean B., Kallish Staci, Sullivan Kathleen, Zackai Elaine H., McDonald-McGinn Donna M.

Network-based approaches to explore complex biological systems towards network medicine

pubblicato su: GENES - 2018

Fiscon Giulia, Conte Federica, Farina Lorenzo, Paci Paola

A possible role for selenoprotein glutathione peroxidase (GPx1) and thioredoxin reductases (TrxR1) in thyroid cancer. Our experience in thyroid surgery

pubblicato su: CANCER CELL INTERNATIONAL - 2018

Metere Alessio, Frezzotti Francesca, Graves Claire Elizabeth, Vergine Massimo, DE LUCA Alessandro, Pietraforte Donatella, Giacomelli Laura

Myles W. Jackson, The Genealogy of a Gene: Patents, HIV/AIDS, and Race. Cambridge, MA and London: MIT Press, 2015. Pp. 336. ISBN 978-0-262-02866-0. $37.00 (hardcover)

pubblicato su: BRITISH JOURNAL FOR THE HISTORY OF SCIENCE - 2018

Capocci Mauro