Search Results - "Piras, I S"

A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus by Dunn, P., Prigatano, G. P., Szelinger, S., Roth, J., Siniard, A. L., Claasen, A. M., Richholt, R. F., De Both, M., Corneveaux, J. J., Moskowitz, A. M., Balak, C., Piras, I. S., Russell, M., Courtright, A. L., Belnap, N., Rangasamy, S., Ramsey, K., Opitz, J. M., Craig, D. W., Narayanan, V., Huentelman, M. J., Schrauwen, I.

“…Mutations in CASK cause X‐linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties,…”
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BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT by Piras, I S, Angius, A, Andreani, M, Testi, M, Lucarelli, G, Floris, M, Marktel, S, Ciceri, F, Nasa, G La, Fleischhauer, K, Roncarolo, M G, Bulfone, A, Gregori, S, Bacchetta, R

“…The genetic background of donor and recipient is an important factor determining the outcome of allogeneic hematopoietic SCT (allo-HSCT). We applied…”
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Transcriptomic insights into multiple system atrophy from a PLP-α-synuclein transgenic mouse model by Nicholson, L., Piras, I.S., DeBoth, M.D., Siniard, A., Heras-Garvin, A., Stefanova, N., Huentelman, M.J.

“…[Display omitted] •Multiple system atrophy (MSA) is a rare neurodegenerative disorder with rapid symptom progression.•In this study, we investigated the RNA…”
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Anti-brain antibodies are associated with more severe cognitive and behavioral profiles in Italian children with Autism Spectrum Disorder by Piras, I.S, Haapanen, L, Napolioni, V, Sacco, R, Van de Water, J, Persico, A.M

“…Highlight • Further evidence of pathomorphic roles for patient- and mother-produced antibrain antibodies in Autism Spectrum Disorder…”
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Prevalence and trend of overweight and obesity among Sardinian conscripts (Italy) of 1969 and 1998 by Loviselli, A, Ghiani, M E, Velluzzi, F, Piras, I S, Minerba, L, Vona, G, Calò, C M

“…This study evaluated the prevalence of overweight and obesity in the male Sardinian population (Italy), and verifies that it has increased over the last 30…”
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Prevalence of genetic risk factors for coronary artery disease in Corsica island (France) by Falchi, A., Giovannoni, L., Piras, I.S., Calo, C.M., Moral, P., Vona, G., Varesi, L.

“…We have investigated the frequencies of seven markers among 100 unrelated individuals with angiographically documented CAD (Coronary Artery Disease) and among…”
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High frequencies of short alleles of NOS1 (CA)n polymorphism in β°39 carriers from Corsica Island (France) by PIRAS, I. S, FALCHI, A, MELIS, A, DE CIAN, M. C, CALO, C. M, VONA, G, VARESI, L

“…In this work we investigated about the presence of a correlation between a (CA)n repeat located in exon 29 of NOS1 gene and the beta-thalassemia trait in…”
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Cholesteryl ester transfer protein gene polymorphisms are associated with coronary artery disease in Corsican population (France) by Falchi, A., Piras, I.S., Vona, G., Amoros, J.P., Calo', C.M., Giovannoni, L., Varesi, L.

“…The aim of the present study was to investigate the association between coronary artery disease (CAD) and Cholesterol Ester Transfer Protein (CETP) (gaaa)n…”
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BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT by Piras, I.S, Angius, A, Andreani, M, Testi, M, Lucarelli, G, Floris, M, Marktel, S, Ciceri, F, La Nasa, G, Fleischhauer, K, Roncarolo, M.G, Bulfone, A, Gregori, S, Bacchetta, R

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Erratum: BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT by Piras, I S, Angius, A, Andreani, M, Testi, M, Lucarelli, G, Floris, M, Marktel, S, Ciceri, F, La Nasa, G, Fleischhauer, K, Roncarolo, M G, Bulfone, A, Gregori, S, Bacchetta, R

“…Correction to: Bone Marrow Transplantation (2014) 49, 1400–1404;doi:10.1038/bmt.2014.177; published online 11 August 2014 Since the publication of this article…”
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Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathway by Piras, Ignazio S, Krate, Jonida, Schrauwen, Isabelle, Corneveaux, Jason J, Serrano, Geidy E, Sue, Lucia, Beach, Thomas G, Huentelman, Matthew J

“…The rs17070145‐T variant of the WWC1 gene, coding for the KIBRA protein, has been associated with both increased episodic memory performance and lowered risk…”
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Genetic history of some western Mediterranean human isolates through mtDNA HVR1 polymorphisms by Falchi, Alessandra, Giovannoni, Laurianne, Calo, Carla Maria, Piras, Ignazio Stefano, Moral, Pedro, Paoli, Giorgio, Vona, Giuseppe, Varesi, Laurent

“…The existence of a genetic gradient across continents has often been highlighted. Comparisons among several genetic markers have suggested that most genes of…”
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Review Synthetic Article: Sardinian Population (Italy): a Genetic Review by Calò, CM, Melis, A, Vona, G, Piras, IS

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Diversity of ß-Globin Haplotypes Associated with P-Thalassemia in Corsica (France) by Giovannoni, L., Falchi, A., Piras, I.-S., Amoros, J.P., Paoli, G., Toffanelli, S., Vona, G., Varesi, L.

“…In recent work the genetic structure of beta-thalassaemia diseases have been published and showed the particular incidence of the betadeg-39 mutation in…”
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Mid-infrared (MIR) spectroscopy for the detection of cow's milk in buffalo milk by Anna Antonella, Spina, Carlotta, Ceniti, Cristian, Piras, Bruno, Tilocca, Domenico, Britti, Valeria Maria, Morittu

“…In Italy, buffalo mozzarella is a largely sold and consumed dairy product. The fraudulent adulteration of buffalo milk with cheaper and more available milk of…”
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The Burden of Agoraphobia in Worsening Quality of Life in a Community Survey in Italy by Antonio Preti, Martina Piras, Giulia Cossu, Elisa Pintus, Mirra Pintus, Goce Kalcev, Federico Cabras, Maria

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