Search Results - "Valentina, Dessì"

High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs by Antonietta, Zappu, Olympia, Magli, Lepori, Maria Barbara, Valentina, Dessì, Stefania, Diana, Simona, Incollu, Emmanuel, Kanavakis, Polyxeni, Nicolaidou, Nina, Manolaki, Andreas, Fretzayas, Stefano, De Virgiliis, Antonio, Cao, Georgios, Loudianos

“…ABSTRACT Objectives: Herein we report the results of mutation‐based screening for Wilson disease (WD) in 2 isolated populations of Sardinia and the Greek…”
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Cognitive and Personality Factors Implicated in Pain Experience in Women With Endometriosis: A Mixed-Method Study by Zarbo, Cristina, Brugnera, Agostino, Dessì, Valentina, Barbetta, Pietro, Candeloro, Ilario, Secomandi, Rita, Betto, Enrico, Malandrino, Chiara, Bellia, Adriano, Trezzi, Gaetano, Rabboni, Massimo, Compare, Angelo, Frigerio, Luigi

“…OBJECTIVE:The impact of pain on quality of life and mental health of women with endometriosis is well known. However, the role that personality traits and…”
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Quality vs quantity. Is it possible to quantify the quality of public space? by Valentina Dessì, Lisa Astolfi

“…Despite the common practice and the regulatory requirements related to the urban planning of our cities continues to define environmental quality through…”
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The impact of green space structure on physiological equivalent temperature index in open space by Davtalab, Jamshid, Deyhimi, Shahram Poor, Dessi, Valentina, Hafezi, Mohammad Reza, Adib, Morteza

“…Planting vegetation in urban areas can tilt the heat balance in favor of cooler temperatures. For this reason, studying the extension and intensity of the…”
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Cancer Anxiety Mediates the Association Between Satisfaction With Medical Communication and Psychological Quality of Life After Prophylactic Bilateral Salpingo-Oophorectomy by Zarbo, Cristina, Brugnera, Agostino, Frigerio, Luigi, Celi, Chiara, Compare, Angelo, Dessì, Valentina, Giordano, Rosalba, Malandrino, Chiara, Sina, Federica Paola, Strepparava, Maria Grazia, Tessitore, Isadora Vaglio, Ventura, Mariangela, Fruscio, Robert

“…Prophylactic Bilateral Salpingo-Oophorectomy (PBSO) reduces the risk of developing ovarian cancer. However, the psychological mechanisms that may affect…”
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An exploration of body image distress in women who underwent a prophylactic bilateral salpingo-oophorectomy (PBSO) by Zarbo, Cristina, Fruscio, Robert, Brugnera, Agostino, Strepparava, Maria Grazia, Secomandi, Rita, Malandrino, Chiara, Celi, Chiara, Sina, Federica Paola, Tessitore, Isadora Vaglio, Dessì, Valentina, Ventura, Mariangela, Compare, Angelo, Frigerio, Luigi

“…Prophylactic Bilateral Salpingo-Oophorectomy (PBSO) may be associated with body image distress (BID). However, the risk factors of BID after PBSO and its…”
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Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features: The Coexistence of Two Diseases? by Loudianos, Georgios, Zappu, Antonietta, Lepori, Maria B, Dessì, Valentina, Mameli, Eva, Orrù, Sandra, Podda, Rosa A, De Virgiliis, Stefano

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Environmental sustainability vs livability of the compact city? by Valentina Dessì

“…Improvements of energy efficiency and ecosystem services, as well as the revitalization of the city, are often conflicting goals. However, through the…”
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Sostenibilità ambientale vs vivibilità della città compatta?/Environmental sustainability vs liveability of the compact city? by Dessì, Valentina

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Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH by Boccone, Loredana, Mariotti, Stefano, Dessì, Valentina, Pruna, Dario, Meloni, Antonella, Loudianos, Georgios

“…Abstract Thyroid hormones are known to be essential for growth, development and metabolism. Recently mutations in the SLC16A2 gene coding for the…”
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Wilson's disease in two consecutive generations: The detection of three mutated alleles in the ATP7B gene in two Sardinian families by Loudianos, Georgios, Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Mameli, Eva, Garrucciu, Giovanni, De Virgiliis, Stefano, Cao, Antonio

“…Abstract Background Wilson's disease diagnosis is still a challenge for clinicians. Aim To underline the importance of genetic testing in carrier detection and…”
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Qualità vs quantità. È possibile quantificare la qualità dello spazio pubblico? by Dessì, Valentina, Astolfi, Lisa

“…Misurare la qualita: lo stato dell'arte Nei primi anni Novanta, in seguito al diffuso riconoscimento del concetto di sviluppo sostenibile, si diffondono…”
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Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis by Lepori, Maria-Barbara, Zappu, Antonietta, Incollu, Simona, Dessì, Valentina, Mameli, Eva, Demelia, Luigi, Nurchi, Anna Maria, Gheorghe, Liana, Maggiore, Giuseppe, Sciveres, Marco, Leuzzi, Vincenzo, Indolfi, Giuseppe, Bonafé, Luisa, Casali, Carlo, Angeli, Paolo, Barone, Patrizia, Cao, Antonio, Loudianos, Georgios

“…Wilson's disease (WD), an autosomal recessive disorder of copper transport with a broad range of genotypic and phenotypic characteristics, results from…”
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Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels by Boccone, Loredana, Dessì, Valentina, Meloni, Antonella, Loudianos, Georgios

“…Abstract Allan–Herndon–Dudley syndrome (AHDS), an X linked condition, is characterized by severe intellectual disability, dysarthria, athetoid movements,…”
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DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient by Incollu, Simona, Lepori, Maria Barbara, Zappu, Antonietta, Dessì, Valentina, Noli, Maria Cristina, Mameli, Eva, Iorio, Raffaele, Ranucci, Giusy, Cao, Antonio, Loudianos, Georgios

“…Wilson disease is an autosomal recessive disorder caused by defective function of the copper transporting protein ATP7B. Approximately 520 Wilson…”
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Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features by Loudianos, Georgios, Zappu, Antonietta, Lepori, Maria B., Dessì, Valentina, Mameli, Eva, Orrù, Sandra, Podda, Rosa A., De Virgiliis, Stefano

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Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation by Boccone, Loredana, Dessì, Valentina, Zappu, Antonietta, Piga, Silvia, Piludu, Maria Bonaria, Rais, Marco, Massidda, Carlo, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

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Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report by Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Noli, Maria Cristina, Mameli, Eva, Bonafé, Luisa, Garcia Dépraz, Nuria, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

“…Approximately 520 Wilson disease-causing mutations in the ATP7B gene have been described to date. In this study we report DNA and RNA analyses carried out for…”
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Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation by Boccone, Loredana, Dessì, Valentina, Serra, Gigliola, Zibordi, Federica, Loudianos, Georgios

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RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease by Lovicu, Mario, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Zappu, Antonietta, Iorio, Raffaele, D'Ambrosi, Mariangela, Pellecchia, Maria Teresa, Barone, Paolo, Maggiore, Giuseppe, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

“…Wilson disease (WD) is an autosomal recessive disorder caused by a defective function of the copper-transporting ATP7B protein. This results in progressive…”
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