EDMAR ZANOTELI

(Fonte: Lattes)
Índice h a partir de 2011
24
Lattes
ORCID
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Neurologia, Faculdade de Medicina - Docente
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina

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  • article 1 Citação(ões) na Scopus
    Duchenne muscular dystrophy and Duane's syndrome: a rare association
    (2013) PASQUALIN, Livia M. A.; ZANOTELI, Edmar; VELOSO, Marco A. M.; FRIZZO, Silvana K.; RESENDE, Maria B. D.; ABUCHAM-NETO, Julio Z.; POLATI, Mariza; CHADI, Gerson; REED, Umbertina C.
  • article 1 Citação(ões) na Scopus
    Spinal muscular atrophy due to a ""de novo"" 1.3 Mb deletion: Implication for genetic counseling
    (2013) SILVA, Luciana Rodrigues Jacy da; COLOVATI, Mileny Esbravatti Stephano; COPRERSKI, Bruno; ANDRADE, Carlos Eugenio Fernandez de; ZANOTELI, Edmar; RASKIN, Salmo; OLIVEIRA, Mariana Moyses; MELARAGNO, Maria Isabel; PEREZ, Ana Beatriz Alvarez
    We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation of the tongue, and severe respiratory muscle involvement. She remained in an intensive care unit with an assisted ventilation system from the fourth month of life. She died at 3 years of age from pulmonary infection. Molecular analysis confirmed the diagnosis of SMA but revealed that only the father was an asymptomatic carrier. Because SMN1 is mapped in a complex region containing repetitive elements due to an inverted duplication of approximately 500 kb, we carry out an SNP array and detected a 1.3 Mb deletion including the SMN1 and SMN2 genes that explain the disease.