Search Results - "Zanardo, A"

Fast liquid chromatography-tandem mass spectrometry method for the simultaneous determination of phytocannabinoids in oily based preparations by Merone, G.M., Tartaglia, A., Rossi, S., Santavenere, F., Bassotti, E., D’Ovidio, C., Bonelli, M., Rosato, E., de Grazia, U., Zanardo, A., Locatelli, M., Savini, F.

“…•Fast LC–MS/MS method for 7 phytocannabinoids in oily based formulations.•Quality control on magistrali preparations.•First method for oily based cannabis…”
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A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability by Ceroni, J. R. M., Dutra, R. L., Honjo, R. S., Llerena, J. C., Acosta, A. X., Medeiros, P. F. V., Galera, M. F., Zanardo, É. A., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Montenegro, M. M., Madia, F. A. R., Bertola, D. R., de Melo, J. B., Kulikowski, L. D., Kim, C. A.

“…Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number…”
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The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil by Castro, L.P., Sahbatou, M., Kehdy, F.S.G., Farias, A.A., Yurchenko, A.A., de Souza, T.A., Rosa, R.C.A., Mendes-Junior, C.T., Borda, V., Munford, V., Zanardo, É.A., Chehimi, S.N., Kulikowski, L.D., Aquino, M.M., Leal, T.P., Tarazona-Santos, E., Chaibub, S.C., Gener, B., Calmels, N., Laugel, V., Sarasin, A., Menck, C.F.M.

“…•Identifying a common genomic segment between Brazilian and Spanish XP patients.•The POLH intron 6 mutation in Brazil is originally from Europe.•The founder…”
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Body mass index, lifestyles, physical performance and cognitive decline: The “Treviso Longeva (Trelong)” study by Gallucci, Maurizio, Mazzuco, S., Ongaro, F., Di Giorgi, E., Mecocci, P., Cesari, M., Albani, D., Forloni, G. L., Durante, E., Gajo, G. B., Zanardo, A., Siculi, M., Caberlotto, L., Regini, C.

“…Objectives The relative contributions of risk factors, as body mass index (BMI), depression, chronic diseases, smoking, and lifestyles (as physical and…”
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Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry by Chehimi, Samar N., Zanardo, Évelin A., Ceroni, José R. M., Nascimento, Amom M., Madia, Fabrícia A. R., Dias, Alexandre T., Filho, Gil M. N., Montenegro, Marília M., Damasceno, Jullian, Costa, Thaís V. M. M., Gasparini, Yanca, Kim, Chong A., Kulikowski, Leslie D.

“…Background Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p‐). The main clinical…”
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Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior by Dutra, Roberta L., Piazzon, Flavia B., Zanardo, Évelin A., Costa, Thais Virginia Moura Machado, Montenegro, Marília M., Novo-Filho, Gil M., Dias, Alexandre T., Nascimento, Amom M., Kim, Chong Ae, Kulikowski, Leslie D.

“…Williams–Beuren syndrome (WBS) is caused by a hemizygous contiguous gene microdeletion of 1.55–1.84 Mb at 7q11.23 region. Approximately, 28 genes have been…”
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Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability by Novo-Filho, Gil M, Montenegro, Marília M, Zanardo, Évelin A, Dutra, Roberta L, Dias, Alexandre T, Piazzon, Flavia B, Costa, Taís V M M, Nascimento, Amom M, Honjo, Rachel S, Kim, Chong A, Kulikowski, Leslie D

“…The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions…”
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Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases by Montenegro, Marilia M., Quaio, Caio R., Palmeira, Patricia, Gasparini, Yanca, Rangel‐Santos, Andreia, Damasceno, Julian, Novak, Estela M., Gimenez, Thamires M., Yamamoto, Guilherme L., Ronjo, Rachel S., Novo‐Filho, Gil M., Chehimi, Samar N., Zanardo, Evelin A., Dias, Alexandre T., Nascimento, Amom M., Costa, Thais V. M. M., Duarte, Alberto J. da S., Coutinho, Luiz L., Kim, Chong A., Kulikowski, Leslie D.

“…Background Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency,…”
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Factors related to disability: Evidence from the “Treviso Longeva (TRELONG) Study” by Gallucci, M, Ongaro, F, Meggiolaro, S, Antuono, P, Gustafson, D.R, Forloni, G.L, Albani, D, Gajo, G.B, Durante, E, Caberlotto, L, Zanardo, A, Siculi, M, Muffato, G, Regini, C

“…Abstract Prolongation of life is an important public health goal as long as there is an emphasis on the quality of life (QoL) and independent living…”
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HOMOCYSTEINE IN ALZHEIMER DISEASE AND VASCULAR DEMENTIA by GALLUCCI, M., ZANARDO, A., DE VALENTIN, L., VIANELLO, A.

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The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort by Fernandes, A.M., Rocha-Braz, M.G.M., França, M.M., Lerario, A.M., Simões, V.R.F., Zanardo, E.A., Kulikowski, L.D., Martin, R.M., Mendonca, B.B., Ferraz-de-Souza, B.

“…Summary We have sought the molecular diagnosis of OI in 38 Brazilian cases through targeted sequencing of 15 candidate genes. While 71% had type 1…”
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Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations by Zanardo, Évelin A., Monteiro, Fabíola P., Chehimi, Samar N., Oliveira, Yanca G., Dias, Alexandre T., Costa, Larissa A., Ramos, Luiza L., Novo-Filho, Gil M., Montenegro, Marília M., Nascimento, Amom M., Kitajima, João P., Kok, Fernando, Kulikowski, Leslie D.

“…Overcoming challenges for the unambiguous detection of copy number variations is essential to broaden our understanding of the role of genomic variants in the…”
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Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients by Franchim, C. S., Soares-Junior, J. M., Serafini, P. C., Monteleone, P. A. A., Coccuzza, M. S., Zanardo, E. A., Montenegro, M. M., Dias, A. T., Kulikowski, L. D., Baracat, E. C.

“…Purpose Worldwide publications follow the gold standard method—the polymerase chain reaction (PCR)—for detecting Y-chromosome microdeletions; however, markers…”
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The Treviso Longeva (Trelong) study: A biomedical, demographic, economic and social investigation on people 70 years and over in a typical town of North-East of Italy by Gallucci, M, Ongaro, F, Bresolin, F, Bernardi, U, Salvato, C, Minello, A, Amici, G.P, Barasciutti, E, Mazzuco, S, Gajo, G.B, De Angeli, S, Forloni, G.L, Albani, D, Zanardo, A, Regini, C

“…Abstract Longevity is a complex process resulting from genetic and environmental factors, as well as their interaction. These factors are poorly understood,…”
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Associations of the plasma interleukin 6 (IL-6) levels with disability and mortality in the elderly in the Treviso Longeva (Trelong) study by Gallucci, M, Amici, G.P, Ongaro, F, Gajo, G.B, De Angeli, S, Forloni, G.L, Albani, D, Prato, F, Polito, L, Zanardo, A, Regini, C

“…Abstract IL-6 expression is regulated by the interplay of several transcriptional and hormonal factors, including sex steroids and glucocorticoids. In late…”
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Radiological signs of pulmonary congestion do not predict failed spontaneous breathing trial by Antonio, ACP, Zanardo, AP, Castro, PS, Gazzana, MB, Teixeira, C, Knorst, M

“…Issue Title: ESICM LIVES 2015…”
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Exhumation of high-pressure granulites of the Guaxupé Complex, southeastern Brazil by Del Lama, E. A., Zanardo, A., Oliveira, M. A. F., Morales, N.

“…This paper describes tectonic and metamorphic features of Precambrian rocks from the Guaxupé Complex and Varginha Shear Zone (VSZ) near the city of Guaxupé in…”
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Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis by Rocha-Braz, Manuela G M, França, Monica M, Fernandes, Adriana M, Lerario, Antonio M, Zanardo, Evelin A, de Santana, Lucas S, Kulikowski, Leslie D, Martin, Regina M, Mendonca, Berenice B, Ferraz-de-Souza, Bruno

“…Abstract Context The genetic bases of osteoporosis (OP), a disorder with high heritability, are poorly understood at an individual level. Cases of idiopathic…”
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Geochemistry Of The GuaxupÉ Granulites, Minas Gerais, Brazil by Lama, E.A. Del, Oliveira, M.A.F. de, Zanardo, A.

“…Geochemical data for granulite terrain are presented in the northernmost portion of the Guaxupé Massif, at Mantiqueira Province, SE Brazil. Several types of…”
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Litter characteristics and pododermatitis incidence in broilers fed a sorghum-based diet by Carvalho, CMC, Litz, FH, Fernandes, EA, Silveira, MM, Martins, JM da S, Fonseca, LA, Zanardo, JA

“…The aim of this study was to evaluate the incidence of footpad dermatitis and quality of broilers litter fed with sorghum grain and diets based in corn. It was…”
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