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

Genomic and physiological resilience in extreme environments are associated with a secure attachment style

pubblicato su: TRANSLATIONAL PSYCHIATRY - 2020
Caputo Viviana, Pacilli Maria Giuseppina, Arisi Ivan, Mazza Tommaso, Brandi Rossella, Traversa Alice, Casasanta Giampietro, Pisa Edoardo, Sonnessa Michele, Healey Beth, Moggio Lorenzo, D’Onofrio Mara, Alleva Enrico, Macrì Simone

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

ANGPTL4 gene E40K variation protects against obesity-associated dyslipidemia in participants with obesity

pubblicato su: OBESITY SCIENCE & PRACTICE - 2019
Bailetti D, Bertoccini L, Mancina R M, Barchetta I, Capoccia D, Cossu E, Pujia A, Lenzi A, Leonetti F, Cavallo Mg, Romeo S, Baroni Mg

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

A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor

pubblicato su: HLA - 2019
Catalano Manuela, Preziosi Nicoletta, Iaquinta Giovanni, Testi Manuela, Grammatico Paola

LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2019
Morlino Silvia, Alesi Viola, Calì Federica, Lepri Francesca Romana, Secinaro Aurelio, Grammatico Paola, Novelli Antonio, Drago Fabrizio, Castori Marco, Baban Anwar

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 (8th–7th 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

An Antarctic flock under the Thorson's rule: Diversity and larval development of Antarctic Velutinidae (Mollusca: Gastropoda)

pubblicato su: MOLECULAR PHYLOGENETICS AND EVOLUTION - 2019
Fassio Giulia, Modica Maria Vittoria, Alvaro Maria Chiara, Buge Barbara, Salvi Daniele, Oliverio Marco, Schiaparelli Stefano

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

First archaeological investigations in the Chott El Jerid area, Southern Tunisia

pubblicato su: SCIENZE DELL'ANTICHITÀ - 2017
DI LERNIA Savino, Anagnostou Paolo, Fraj Tarek Ben, Nasr Jaâfar Ben, Boukhchim Nouri, Boussoffara Ridha, Brahim Hedi Bel Haj, Cancellieri Emanuele, Carpentieri Marco, Castorina Francesca, DESTRO-BISOL Giovanni, Lucci Enrico, Manzi Giorgio, Marnaoui Marwa, Monaco Andrea, Ouaja Mohamed, Jaouadi Sahbi, Tafuri MARY ANNE

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

Three pectin methylesterase inhibitors protect cell wall integrity for arabidopsis immunity to Botrytis

pubblicato su: PLANT PHYSIOLOGY - 2017
Lionetti Vincenzo, Fabri Eleonora, De Caroli Monica, Hansen Aleksander R., Willats William G. T., Piro Gabriella, Bellincampi Daniela

Drosophila male meiosis

pubblicato su: Methods in Molecular Biology - 2017
Bonaccorsi Silvia, Gatti Maurizio

The hybrid incompatibility genes Lhr and Hmr are required for sister chromatid detachment during anaphase but not for centromere function

pubblicato su: GENETICS - 2017
Blum Jacob A., Bonaccorsi Silvia, Marzullo Marta, Palumbo Valeria, Yamashita Yukiko M., Barbash Daniel A., Gatti Maurizio

Common variants of human TERT and TERC genes and susceptibility to sporadic Alzheimers disease

pubblicato su: EXPERIMENTAL GERONTOLOGY - 2017
Scarabino D., Broggio E., Gambina G., Pelliccia Franca, Corbo Rosa Maria

Leukocyte telomere length in mild cognitive impairment and Alzheimer's disease patients

pubblicato su: EXPERIMENTAL GERONTOLOGY - 2017
Scarabino Daniela, Broggio Elisabetta, Gambina Giuseppe, Corbo Rosa Maria

The neuroligins and the synaptic pathway in Autism Spectrum Disorder

pubblicato su: NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS - 2020
Trobiani L., Meringolo M., Diamanti T., Bourne Y., Marchot P., Martella G., Dini L., Pisani A., De Jaco A., Bonsi P.

Cell wall traits that influence plant development, immunity, and bioconversion

pubblicato su: PLANT JOURNAL - 2019
De Lorenzo Giulia, Ferrari Simone, Giovannoni Moira, Mattei Benedetta, Cervone Felice

A new portrait of constitutive heterochromatin: lessons from Drosophila melanogaster

pubblicato su: TRENDS IN GENETICS - 2019
Marsano R. M., Giordano E., Messina G., Dimitri P.

Methods of isolation and characterization of oligogalacturonide elicitors

pubblicato su: Plant Pattern Recognition Receptors: Methods and Protocols - 2017
Benedetti Manuel, Mattei Benedetta, Pontiggia Daniela, Salvi Gianni, Savatin Daniel Valentin, Ferrari Simone

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

Application of a nanostructured enzymatic biosensor based on fullerene and gold nanoparticles to polyphenol detection

pubblicato su: Methods in Molecular Biology - 2017
Tortolini Cristina, Sanzo' Gabriella, Antiochia Riccarda, Mazzei Franco, Favero Gabriele

?-arrestin1-mediated acetylation of Gli1 regulates Hedgehog/Gli signaling and modulates self-renewal of SHH medulloblastoma cancer stem cells

pubblicato su: BMC CANCER - 2017
Miele Evelina, Po Agnese, Begalli Federica, Antonucci Laura, Mastronuzzi Angela, Marras Carlo Efisio, Carai Andrea, Cucchi Danilo, Abballe Luana, Besharat Zein Mersini, Catanzaro Giuseppina, Infante Paola, Di Marcotullio Lucia, Canettieri Gianluca, De Smaele Enrico, Screpanti Isabella, Locatelli Franco, Ferretti Elisabetta

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

Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

pubblicato su: SCIENTIFIC REPORTS - 2021
Pontecorvi P., Bernardini L., Capalbo A., Ceccarelli S., Megiorni F., Vescarelli E., Bottillo I., Preziosi N., Fabbretti M., Perniola G., Benedetti Panici P., Pizzuti A., Grammatico P., Marchese C.

Recent advances in precision medicine for the treatment of anaplastic thyroid cancer

pubblicato su: EXPERT REVIEW OF PRECISION MEDICINE AND DRUG DEVELOPMENT - 2019
Ferrari Silvia Martina, Fallahi Poupak, La Motta Concettina, Elia Giusy, Ragusa Francesca, Ruffilli Ilaria, Patrizio Armando, Baldini Enke, Ulisse Salvatore, Antonelli Alessandro

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

T2238C atrial natriuretic peptide gene variant and cardiovascular events in patients with atrial fibrillation: A substudy from the ATHERO-AF cohort

pubblicato su: INTERNATIONAL JOURNAL OF CARDIOLOGY - 2020
Pastori D., Carnevale R., Stanzione R., Nocella C., Cotugno M., Marchitti S., Bianchi F., Forte M., Valenti V., Biondi-Zoccai G., Schiavon S., Vecchio D., Versaci F., Frati G., Violi F., Volpe M., Pignatelli P., Rubattu S., Sciarretta S.

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

Non-invasive prediction of genotype positive–phenotype negative in hypertrophic cardiomyopathy by 3D modern shape analysis

pubblicato su: EXPERIMENTAL PHYSIOLOGY - 2019
Piras P., Torromeo C., Evangelista A., Esposito G., Nardinocchi P., Teresi L., Madeo A., Re F., Chialastri C., Schiariti M., Varano V., Puddu P. E.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

pubblicato su: MOLECULAR PSYCHIATRY - 2020
Cleynen I., Engchuan W., Hestand M. S., Heung T., Holleman A. M., Johnston H. R., Monfeuga T., McDonald-McGinn D. M., Gur R. E., Morrow B. E., Swillen A., Vorstman J. A. S., Bearden C. E., Chow E. W. C., van den Bree M., Emanuel B. S., Vermeesch J. R., Warren S. T., Owen M. J., Chopra P., Cutler D. J., Duncan R., Kotlar A. V., Mulle J. G., Voss A. J., Zwick M. E., Diacou A., Golden A., Guo T., Lin J. -R., Wang T., Zhang Z., Zhao Y., Marshall C., Merico D., Jin A., Lilley B., Salmons H. I., Tran O., Holmans P., Pardinas A., Walters J. T. R., Demaerel W., Boot E., Butcher N. J., Costain G. A., Lowther C., Evers R., van Amelsvoort T. A. M. J., van Duin E., Vingerhoets C., Breckpot J., Devriendt K., Vergaelen E., Vogels A., Crowley T. B., McGinn D. E., Moss E. M., Sharkus R. J., Unolt M., Zackai E. H., Calkins M. E., Gallagher R. S., Gur R. C., Tang S. X., Fritsch R., Ornstein C., Repetto G. M., Breetvelt E., Duijff S. N., Fiksinski A., Moss H., Niarchou M., Murphy K. C., Prasad S. E., Daly E. M., Gudbrandsen M., Murphy C. M., Murphy D. G., Buzzanca A., Fabio F. D., Digilio M. C., Pontillo M., Marino B., Vicari S., Coleman K., Cubells J. F., Ousley O. Y., Carmel M., Gothelf D., Mekori-Domachevsky E., Michaelovsky E., Weinberger R., Weizman A., Kushan L., Jalbrzikowski M., Armando M., Eliez S., Sandini C., Schneider M., Bena F. S., Antshel K. M., Fremont W., Kates W. R., Belzeaux R., Busa T., Philip N., Campbell L. E., McCabe K. L., Hooper S. R., Schoch K., Shashi V., Simon T. J., Tassone F., Arango C., Fraguas D., Garcia-Minaur S., Morey-Canyelles J., Rosell J., Suner D. H., Raventos-Simic J., Epstein M. P., Williams N. M., Bassett A. S.

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