Lista de obras -

A selective clinical cytogenetic study in prenatal and pediatric pathology: a comparison with unselected studies

scientific article published on 01 June 2008

Ablepharon-macrostomia syndrome: first report of familial occurrence

artículo científico publicado en 2000

Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations

artículo científico publicado en 2006

COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients

artículo científico publicado en 2014

Case Report Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

artículo científico publicado en 2014

DNA extraction and quantification from touch and scrape preparations obtained from autopsy liver cells.

artículo científico publicado en 2004

De novo complex chromosome rearrangement: a study of two patients.

artículo científico publicado en 2004

Discordant phenotypes in first cousins with UBE3A frameshift mutation

scientific article published on 01 June 2004

Etiologic investigations on male infertility before intracytoplasmatic sperm injection (ICSI)

artículo científico publicado en 2006

Genetic counseling

scientific article published on 01 August 2008

Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype.

artículo científico publicado en 2008

Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.

artículo científico publicado en 2009

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

article

Neuroimaging and echocardiographic findings in Sotos syndrome

artículo científico publicado en 2000

Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation

artículo científico publicado en 2003

Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015

artículo científico publicado en 2016

Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men.

artículo científico publicado en 2006

Sotos syndrome (cerebral gigantism): analysis of 8 cases.

artículo científico publicado en 2002

Lista de obras de

A selective clinical cytogenetic study in prenatal and pediatric pathology: a comparison with unselected studies

Ablepharon-macrostomia syndrome: first report of familial occurrence

Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations

COL1A1 and miR-29b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients

Case Report Familial balanced translocation leading to an offspring with phenotypic manifestations of 9p syndrome

DNA extraction and quantification from touch and scrape preparations obtained from autopsy liver cells.

De novo complex chromosome rearrangement: a study of two patients.

Discordant phenotypes in first cousins with UBE3A frameshift mutation

Etiologic investigations on male infertility before intracytoplasmatic sperm injection (ICSI)

Genetic counseling

Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype.

Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

Neuroimaging and echocardiographic findings in Sotos syndrome

Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation

Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015

Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men.

Sotos syndrome (cerebral gigantism): analysis of 8 cases.