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1281por Ti, Lianping, Hayashi, Kanna, Kaplan, Karyn, Suwannawong, Paisan, Fu, Eric, Wood, Evan, Kerr, Thomas“…Multivariate logistic regression was used to examine factors associated with willingness to access HIV testing at the drug-user-run Mitsampan Harm Reduction Centre (MSHRC). …”
Publicado 2012
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1283por Djamiatun, Kis, van der Ven, Andre J. A. M., de Groot, Philip G., Faradz, Sultana M. H., Hapsari, D., Dolmans, Wil M. V., Sebastian, Silvie, Fijnheer, Rob, de Mast, Quirijn“…In 4 out of 15 selected children with low ADAMTS-13 levels on admission, we found a remarkable reduction in the large and intermediate VWF multimers in the discharge blood samples, consistent with an acquired von Willebrand disease. CONCLUSION: These findings suggest that severe dengue is associated with exocytosis of WPBs with increased circulating levels of VWF:Ag, VWF propeptide and OPG. …”
Publicado 2012
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1284“…Persistent thrombocytosis, bone marrow findings, JAK2 gene mutation, and markedly decreased ristocetin-cofactor activity were consistent with the diagnosis of ET and acquired von Willebrand disease. Elevated antiphospholipid antibodies were also found. …”
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1285“…To our surprise, the modified Monier-Williams method (also known as aspiration method) showed to be very inaccurate for free-sulfite, although suitable for bound-sulfite determination. …”
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1286“…Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. …”
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1287por Bombeccari, Gian P., Guzzi, Gianpaolo, Bucciarelli, Paolo, Pallotti, Francesco, Spadari, FrancescoEnlace del recurso
Publicado 2012
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1288“…William's syndrome is a chromosomal disorder characterized by multisystem, congenital and panethnic occurrence, characterized by a number of developmental and physical abnormalities. …”
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1289por Badirou, Idinath, Kurdi, Mohamad, Legendre, Paulette, Rayes, Julie, Bryckaert, Marijke, Casari, Caterina, Lenting, Peter J., Christophe, Olivier D., Denis, Cecile V.“…The objective of this project was to study the function of O-glycosylations in von Willebrand factor (VWF) life cycle. In total, 14 different murine Vwf cDNAs mutated on one or several O-glycosylations sites were generated: 9 individual mutants, 2 doublets, 2 clusters and 1 mutant with all 9 murine glycosylation sites mutated (Del-O-Gly). …”
Publicado 2012
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1290por Karmiloff-Smith, Annette, Broadbent, Hannah, Farran, Emily K., Longhi, Elena, D’Souza, Dean, Metcalfe, Kay, Tassabehji, May, Wu, Rachel, Senju, Atsushi, Happé, Francesca, Turnpenny, Peter, Sansbury, Francis“…Identifying genotype/phenotype relations in human social cognition has been enhanced by the study of Williams syndrome (WS). Indeed, individuals with WS present with a particularly strong social drive, and researchers have sought to link deleted genes in the WS critical region (WSCR) of chromosome 7q11.23 to this unusual social profile. …”
Publicado 2012
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1291por Barnett, Daniel J, Thompson, Carol B, Errett, Nicole A, Semon, Natalie L, Anderson, Marilyn K, Ferrell, Justin L, Freiheit, Jennifer M, Hudson, Robert, Koch, Michelle M, McKee, Mary, Mejia-Echeverry, Alvaro, Spitzer, James, Balicer, Ran D, Links, Jonathan M“…BACKGROUND: The all-hazards willingness to respond (WTR) of local public health personnel is critical to emergency preparedness. …”
Publicado 2012
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1292por Martens, Marilee A., Hasinski, Adam E., Andridge, Rebecca R., Cunningham, William A.“…The decision to approach or avoid an unfamiliar person is based in part on one’s evaluation of facial expressions. Individuals with Williams syndrome (WS) are characterized in part by an excessive desire to approach people, but they display deficits in identifying facial emotional expressions. …”
Publicado 2012
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1295Social Brain Development in Williams Syndrome: The Current Status and Directions for Future Research“…Williams syndrome (WS) is a neurodevelopmental condition that occurs as a result of a contiguous deletion of ∼26–28 genes on chromosome 7q11.23. …”
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1298por Dai, Li, Carter, C. Sue, Ying, Jian, Bellugi, Ursula, Pournajafi-Nazarloo, Hossein, Korenberg, Julie R.“…The molecular and neural mechanisms regulating human social-emotional behaviors are fundamentally important but largely unknown; unraveling these requires a genetic systems neuroscience analysis of human models. Williams Syndrome (WS), a condition caused by deletion of ∼28 genes, is associated with a gregarious personality, strong drive to approach strangers, difficult peer interactions, and attraction to music. …”
Publicado 2012
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1299por Rossi, Elena, Giorda, Roberto, Bonaglia, Maria Clara, Candia, Stefania Di, Grechi, Elena, Franzese, Adriana, Soli, Fiorenza, Rivieri, Francesca, Patricelli, Maria Grazia, Saccilotto, Donatella, Bonfante, Aldo, Giglio, Sabrina, Beri, Silvana, Rocchi, Mariano, Zuffardi, Orsetta“…Imbalances were associated either with Prader-Willi or Angelman syndrome. Array-CGH demonstrated the absence of any copy number changes in the recipient chromosome in three cases, while one carried a cryptic terminal deletion and another a large terminal deletion, already diagnosed by classical cytogenetics. …”
Publicado 2012
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1300“…Prior research has indicated that pragmatics is an area of particular weakness for individuals with Williams syndrome (WS). To further address this aspect of the WS social phenotype, we used an individual differences approach to consider both cross-sectional and longitudinal relations among different pragmatic abilities for 14 children with WS, taking into account individual differences in non-verbal reasoning abilities. …”
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