Lista de obras -

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

artículo científico publicado en 2018

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin ⬇️

artículo científico publicado el 17 de abril de 2012

Abdominal ultrasound scan in Down syndrome patients: high frequency of nonsymptomatic biliary tract disease

scientific article published on 01 June 1993

Apoptosis and expression of anti- and pro-apoptotic proteins in peripheral blood mononuclear cells of Fanconi anaemia patients: a study of 73 cases.

artículo científico publicado en 2005

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations

artículo científico publicado en 2011

Association of Turner's syndrome and hypopituitarism: a patient report.

artículo científico publicado en 2003

Bax expression and apoptotic cell death in Fanconi anaemia peripheral blood lymphocytes

artículo científico publicado en 2007

CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report

scientific article published on 01 January 1995

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.

artículo científico publicado en 2015

Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.

artículo científico publicado en 2008

Descriptive cross-sectional study of hearing-disabled children at the National Institute for Education of the Deaf in Rio de Janeiro, Brazil

artículo científico publicado en 2007

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

artículo científico publicado en 2009

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.

artículo científico publicado en 2017

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.

artículo científico publicado en 2013

FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia

artículo científico publicado en 1993

FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation

scientific article published on 01 January 2000

Fumaric aciduria: an overview and the first Brazilian case report.

scientific article published on 15 June 2010

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

scientific article published on 07 August 2019

Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil.

artículo científico publicado en 2014

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

artículo científico publicado en 2009

Medical genetic services in the state of Rio de Janeiro, Brazil

scientific article published on 01 January 2004

Microdeletion and microduplication syndromes

artículo científico publicado en 2012

Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome.

artículo científico publicado en 2001

Molecular analysis of holoprosencephaly in South America

artículo científico publicado en 2014

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

artículo científico publicado en 2010

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

artículo científico publicado en 2018

Novel mutations and polymorphisms in the Fanconi anemia group C gene

artículo científico publicado en 1996

Polymorphic markers suggest a gene flow of CFTR gene from Sub-Saharan/Arabian and Mediterranean to Brazilian Population.

artículo científico publicado en 2006

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

article

Prenatal exposure to misoprostol and vascular disruption defects: a case-control study

artículo científico publicado en 2000

Regarding the Smith-Magenis syndrome multidisciplinary clinical study by Greenberg et al. [1996] ⬇️

artículo científico publicado el 28 de noviembre de 1997

Reliability of birth defect data on birth certificates of Rio de Janeiro, Brazil, 2004

artículo científico publicado en 2008

Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.

artículo científico publicado en 2017

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report ⬇️

artículo científico publicado el 11 de junio de 2012

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

article

Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation.

artículo científico publicado en 2009

Spinal cord compression in young children with type VI mucopolysaccharidosis ⬇️

artículo científico publicado el 23 de julio de 2011

The Brazilian consensus on the management of Pompe disease.

artículo científico publicado en 2009

[Family and religious traditions present in medical discourses by medical professionals about children with genetic diseases]

artículo científico publicado en 2012

Lista de obras de

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin ⬇️

Abdominal ultrasound scan in Down syndrome patients: high frequency of nonsymptomatic biliary tract disease

Apoptosis and expression of anti- and pro-apoptotic proteins in peripheral blood mononuclear cells of Fanconi anaemia patients: a study of 73 cases.

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations

Association of Turner's syndrome and hypopituitarism: a patient report.

Bax expression and apoptotic cell death in Fanconi anaemia peripheral blood lymphocytes

CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.

Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.

Descriptive cross-sectional study of hearing-disabled children at the National Institute for Education of the Deaf in Rio de Janeiro, Brazil

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI.

FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia

FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation

Fumaric aciduria: an overview and the first Brazilian case report.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil.

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

Medical genetic services in the state of Rio de Janeiro, Brazil

Microdeletion and microduplication syndromes

Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome.

Molecular analysis of holoprosencephaly in South America

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Novel mutations and polymorphisms in the Fanconi anemia group C gene

Polymorphic markers suggest a gene flow of CFTR gene from Sub-Saharan/Arabian and Mediterranean to Brazilian Population.

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

Prenatal exposure to misoprostol and vascular disruption defects: a case-control study

Regarding the Smith-Magenis syndrome multidisciplinary clinical study by Greenberg et al. [1996] ⬇️

Reliability of birth defect data on birth certificates of Rio de Janeiro, Brazil, 2004

Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report ⬇️

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation.

Spinal cord compression in young children with type VI mucopolysaccharidosis ⬇️

The Brazilian consensus on the management of Pompe disease.

[Family and religious traditions present in medical discourses by medical professionals about children with genetic diseases]