Search Results - "Coviello, A"

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe by Skirton, Heather, Lewis, Celine, Kent, Alastair, Coviello, Domenico A

“…The use of genetics and genomics within a wide range of health-care settings requires health professionals to develop expertise to practise appropriately…”
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Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter in a single case of uveal melanoma by Dono, M, Angelini, G, Cecconi, M, Amaro, A, Esposito, A I, Mirisola, V, Maric, I, Lanza, F, Nasciuti, F, Viaggi, S, Gualco, M, Bandelloni, R, Truini, M, Coviello, D A, Zupo, S, Mosci, C, Pfeffer, U

“…Background: Uveal melanoma is the most frequent primary tumour of the eye. It is molecularly clearly distinct from cutaneous melanoma and shows a different…”
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ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 by Di Gregorio, Eleonora, Borroni, Barbara, Giorgio, Elisa, Lacerenza, Daniela, Ferrero, Marta, Lo Buono, Nicola, Ragusa, Neftj, Mancini, Cecilia, Gaussen, Marion, Calcia, Alessandro, Mitro, Nico, Hoxha, Eriola, Mura, Isabella, Coviello, Domenico A., Moon, Young-Ah, Tesson, Christelle, Vaula, Giovanna, Couarch, Philippe, Orsi, Laura, Duregon, Eleonora, Papotti, Mauro Giulio, Deleuze, Jean-François, Imbert, Jean, Costanzi, Chiara, Padovani, Alessandro, Giunti, Paola, Maillet-Vioud, Marcel, Durr, Alexandra, Brice, Alexis, Tempia, Filippo, Funaro, Ada, Boccone, Loredana, Caruso, Donatella, Stevanin, Giovanni, Brusco, Alfredo

“…Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We…”
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Sexual dysfunction in men and women with endocrine disorders by Bhasin, Shalender, Prof, Enzlin, Paul, PhD, Coviello, Andrea, MD, Basson, Rosemary, Prof

“…Summary Endocrine disease frequently interrupts sexual function, and sexual dysfunction may signal serious endocrine disease. Diabetic autonomic neuropathy and…”
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On the measurement of the tensile strength of soft rocks by COVIELLO, A, LAGIOIA, R, NOVA, R

“…This paper reports on a comparative study of various types of experimental tests for measuring the tensile strength of rocks and rock-like materials. A…”
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The heritability of circulating testosterone, oestradiol, oestrone and sex hormone binding globulin concentrations in men: the Framingham Heart Study by Travison, T. G., Zhuang, W. V., Lunetta, K. L., Karasik, D., Bhasin, S., Kiel, D. P., Coviello, A. D., Murabito, J. M.

“…Summary Objective Circulating testosterone, oestradiol and oestrone concentrations vary considerably between men. Although a substantial proportion of this…”
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NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint by Conteduca, Giuseppina, Cangelosi, Davide, Coco, Simona, Malacarne, Michela, Baldo, Chiara, Arado, Alessia, Pinto, Rute, Testa, Barbara, Coviello, Domenico A

“…An increasing amount of evidence indicates the critical role of the NSD1 gene in Sotos syndrome (SoS), a rare genetic disease, and in tumors. Molecular…”
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ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression by Degiorgio, Dario, Crosignani, Andrea, Colombo, Carla, Bordo, Domenico, Zuin, Massimo, Vassallo, Emanuela, Syrén, Marie-Louise, Coviello, Domenico A., Battezzati, Pier Maria

“…Background The ABCB4 gene encodes the MDR3 protein. Mutations of this gene cause progressive familial intrahepatic cholestasis type 3 (PFIC3) in children, but…”
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Age trends in estradiol and estrone levels measured using liquid chromatography tandem mass spectrometry in community-dwelling men of the Framingham Heart Study by Jasuja, Guneet Kaur, Travison, Thomas G, Davda, Maithili, Murabito, Joanne M, Basaria, Shehzad, Zhang, Anqi, Kushnir, Mark M, Rockwood, Alan L, Meikle, Wayne, Pencina, Michael J, Coviello, Andrea, Rose, Adam J, D'Agostino, Ralph, Vasan, Ramachandran S, Bhasin, Shalender

“…Age trends in estradiol and estrone levels in men and how lifestyle factors, comorbid conditions, testosterone, and sex hormone-binding globulin affect these…”
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Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy by Cecconi, Massimiliano, Parodi, Maria I, Formisano, Francesco, Spirito, Paolo, Autore, Camillo, Musumeci, Maria B, Favale, Stefano, Forleo, Cinzia, Rapezzi, Claudio, Biagini, Elena, Davì, Sabrina, Canepa, Elisabetta, Pennese, Loredana, Castagnetta, Mauro, Degiorgio, Dario, Coviello, Domenico A

“…Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to…”
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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature by Bunyan, David J., Baffico, Maria, Capone, Lucia, Vannelli, Silvia, Iughetti, Lorenzo, Schmitt, Sébastien, Taylor, Emma-Jane, Herridge, Adam A., Shears, Deborah, Forabosco, Antonino, Coviello, Domenico A.

“…Leri–Weill dyschondrosteosis is a pseudoautosomal dominantly‐inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions,…”
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Circulating Testosterone and SHBG Concentrations Are Heritable in Women: The Framingham Heart Study by Coviello, A. D, Zhuang, W. V, Lunetta, K. L, Bhasin, S, Ulloor, J, Zhang, A, Karasik, D, Kiel, D. P, Vasan, R. S, Murabito, J. M

“…Context: Many factors influence the concentration of circulating testosterone and its primary binding protein, SHBG. However, little is known about the genetic…”
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First-trimester euploid miscarriages analysed by array-CGH by Viaggi, Chiara Donatella, Cavani, S, Malacarne, M, Floriddia, F, Zerega, G, Baldo, C, Mogni, M, Castagnetta, M, Piombo, G, Coviello, D. A, Camandona, F, Lijoi, D, Insegno, W, Traversa, M, Pierluigi, M

“…It is estimated that 10–15 % of all clinically recognised pregnancies results in a miscarriage, most of which occur during the first trimester. Large-scale…”
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Lipomatosis-associated inflammation and excess collagen may contribute to lower relative resting energy expenditure in women with adiposis dolorosa by Herbst, K.L, Coviello, A.D, Chang, A, Boyle, D.L

“…Background: Adiposis dolorosa (AD) is a syndrome of obese and non-obese individuals whose hallmark is lipomatosis: unencapsulated painful fatty masses in…”
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Positioning the Catheter Tip Anterior or Posterior to the Saphenous Nerve in Continuous Adductor Canal Block: A Mono-Centric Retrospective Comparative Study by Coviello, Antonio, Bernasconi, Alessio, Balato, Giovanni, Spasari, Ezio, Ianniello, Marilena, Mariconda, Massimo, Vargas, Maria, Iacovazzo, Carmine, Smeraglia, Francesco, Tognù, Andrea, Servillo, Giuseppe

“…Ultrasound-guided continuous adductor canal block (cACB) is a conventional choice in patients undergoing total knee arthroplasty (TKA) for the management of…”
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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study by Koido, Kati, Malmgren, Charlotta Ingvoldstad, Pojskic, Lejla, Almos, Peter Z., Bergen, Sarah E., Borg, Isabella, Božina, Nada, Coviello, Domenico A., Degenhardt, Franziska, Ganoci, Lana, Jensen, Uffe B., Durand-Lennad, Louise, Laurent-Levinson, Claudine, McQuillin, Andrew, Navickas, Alvydas, Pace, Nikolai P., Paneque, Milena, Rietschel, Marcella, Grigoroiu-Serbanescu, Maria, Soller, Maria Johansson, Suvisaari, Jaana, Utkus, Algirdas, Van Assche, Evelien, Vissouze, Lily, Zuckerman, Shachar, Chaumette, Boris, Tammimies, Kristiina

“…Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric…”
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The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues by SOINI, Sirpa, IBARRETA, Dolores, HARPER, Joyce, KOSZTOLANYI, György, LUNDIN, Kersti, RODRIGUES-CEREZO, Emilio, SERMON, Karen, SEQUEIROS, Jorge, TRANEBJAERG, Lisbeth, KÄÄRIÄINEN, Helena, ANASTASIADOU, Violetta, AYME, Ségolène, BRAGA, Suzanne, CORNEL, Martina, COVIELLO, Domenico A, EVERS-KIEBOOMS, Gerry, GERAEDTS, Joep, GIANAROLI, Luca

“…The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples,…”
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Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects by Conteduca, Giuseppina, Testa, Barbara, Baldo, Chiara, Arado, Alessia, Malacarne, Michela, Candiano, Giovanni, Garbarino, Andrea, Coviello, Domenico A., Cantoni, Claudia

“…•Identification of alternative splicing events for NSD1 gene.•Protein isoform structure prediction with multiple algorithms.•In silico prediction of known NSD1…”
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Clinical correlates of sex steroids and gonadotropins in men over the late adulthood: the Framingham Heart Study by Haring, R., Xanthakis, V., Coviello, A., Sullivan, L., Bhasin, S., Wallaschofski, H., Murabito, J. M., Vasan, R. S.

“…Summary Low serum concentrations of sex steroids and gonadotropins in men have been associated with increased cardiometabolic risk and mortality, but the…”
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Clinical Features of Hypertrophic Cardiomyopathy Caused by Mutation of a “Hot Spot” in the Alpha-Tropomyosin Gene by Coviello, Domenico A, Maron, Barry J, Spirito, Paolo, Watkins, Hugh, Vosberg, Hans-Peter, Thierfelder, Ludwig, Schoen, Frederick J, Seidman, J.G, Seidman, Christine E

“…Objectives. We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropomyosin…”
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