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List of works by Juan Llerena Jr.

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

scientific article published in Scientific Reports

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

scientific article published on April 17, 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.

scientific article published in November 2005

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

scientific article published on 01 January 2011

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

scientific article published on July 2003

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

scientific article published on 01 August 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.

scientific article

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

scientific article

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

scientific article published in March 2007

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

scientific article published on 7 October 2009

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

scientific article published on 8 June 2017

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

scientific article published on 5 March 2013

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

scientific article

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.

scientific article

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

scientific article published on 5 December 2009

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

scientific article published on 01 January 2004

Microdeletion and microduplication syndromes

scientific article published on 06 March 2012

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

scientific article published in September 2001

Molecular analysis of holoprosencephaly in South America

scientific article published on March 2014

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

scientific article

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

scientific article published on 2 February 2018

Novel mutations and polymorphisms in the Fanconi anemia group C gene

scientific article

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

scientific article published on 12 July 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

scientific article

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

scientific article published on November 28, 1997

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

scientific article

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

scientific article published in January 2017

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

scientific article published on June 11, 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.

scientific article published on October 2009

Spinal cord compression in young children with type VI mucopolysaccharidosis ⬇️

scientific article published on July 23, 2011

The Brazilian consensus on the management of Pompe disease.

scientific article published on October 2009

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

scientific article published on 01 February 2012

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