ROBERTA LELIS DUTRA
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
6 resultados
Resultados de Busca
Agora exibindo 1 - 6 de 6
bookPart Síndromes de microdeleção e microduplicação na era dos arrays(2013) JEHEE, Fernanda Maria Sarquis; DUTRA, Roberta LelisconferenceObject Detection of 22q11.2 Deletion in Infants with Congenital Heart Disease (Preliminary Data)(2013) CARNEIRO-SAMPAIO, M.; GRASSI, M. Sierro; KULIKOWSKI, L. Domenici; JACOB, C. Miuki Abe; DUTRA, R. Lelis; MIURA, N.; CECCON, M. E. Jurfest Rivero; KREBS, V. L. Jornada; CARVALHO, W. Brunow; JATENE, M.conferenceObject Cytogenomic Diagnosis of Congenital Heart Diseases(2013) KULIKOWSKI, Leslie; ZANARDO, Evelin; DUTRA, Roberta; PIAZZON, Flavia; DIAS, Alexandre; MONTENEGRO, Marilia; NOVO-FILHO, Gil; BASSO, Mariana; COSTA, Thais; NASCIMENTO, Amom; GRASSI, Marcilia; CARNEIRO-SAMPAIO, Magda; KIM, ChongconferenceObject The role of CNVs in molecular mechanisms for rearrangements in 22q11.2 region diseases(2013) DUTRA, Roberta; ZANARDO, Evelin; PIAZZON, Flavia; DIAS, Alexandre; MONTENEGRO, Marilia; NOVO-FILHO, Gil; BASSO, Mariana; COSTA, Thais; NASCIMENTO, Amon; KIM, Chong; KULIKOWSKI, Leslie; MELARAGNO, Maria Isabel; MELO, Joana BarbosabookPart Interpretação da variação do número de cópias genômicas identificadas por técnicas citogenômicas(2013) JEHEE, Fernanda Maria Sarquis; DUTRA, Roberta Lelis- Assessment of Intellectual and Visuo-Spatial Abilities in Children and Adults with Williams Syndrome(2013) NUNES, M. M.; HONJO, R. S.; DUTRA, R. L.; AMARAL, V. S.; AMARAL, V. A. S.; OH, H. K.; BERTOLA, D. R.; ALBANO, L. M. J.; JR, F. B. Assumpcao; KIM, C. A.; V, M. C. T. TeixeiraThe Williams-Beuren syndrome (SWB), also known as Williams syndrome, is a contiguous gene deletion of the region 7q.11.23. The main clinical characteristics are typical faces, supravalvular aortic stenosis, failure to thrive, short stature, transient neonatal hypercalcemia, delayed language, friendly personality, hyperacusis and intellectual disability. The diagnosis of SWB is confirmed by the detection of micro deletion by different techniques of molecular cytogenetics, FISH, MLPA or polymorphic markers. This study assessed the verbal intelligence quotient (IQ) and performance and visuo-spatial skills in children and adults with WBS. The composed group was of 31 WBS patients (19 M and 12 F), whose ages ranged from 9 to 26 years (M 14.45 y). All patients had the diagnosis confirmed molecularly. The tests used were the WISC-III, WAIS-III and Rey-Osterrieth Complex Figure Test. The results indicated a total IQ ranged from 51 to 86 (M 63): 22 with mild intellectual disability, 4 with moderate intellectual disability, 4 borderlines and 1 below the normal media. All patients had marked visual-spatial deficits. The results suggest nonverbal reasoning, visuo-spatial perception, spatial representation, working memory, motor planning and executive functions are very affected in this group.