(Q33960779)

30 July 2017

Genetics and genomics in Brazil: a promising future (English)

1 reference

30 July 2017

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0 references

Maria Rita Passos-Bueno

1

object named as

Maria Rita Passos-Bueno

1 reference

Dafne Dain Gandelman Horovitz

30 July 2017

3

object named as

Dafne Dain Gandelman Horovitz

1 reference

30 July 2017

Debora Bertola

2

1 reference

30 July 2017

Victor Evangelista de Faria Ferraz

4

1 reference

30 July 2017

Luciano Abreu Brito

5

1 reference

30 July 2017

1 July 2014

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Molecular genetics & genomic medicine

30 July 2017

1 reference

30 July 2017

2

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30 July 2017

4

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30 July 2017

280-291

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Brazilian quilombos: A repository of Amerindian alleles

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Pharmacogenomic implications of population admixture: Brazil as a model case

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Nonsyndromic types of ichthyoses - an update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Genomic ancestry of rural African-derived populations from Southeastern Brazil.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Multilocus family-based association analysis of seven candidate polymorphisms with essential hypertension in an african-derived semi-isolated brazilian population.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Genetic services and testing in Brazil

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

A global perspective on sickle cell disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Epidemiological surveillance of birth defects compatible with thalidomide embryopathy in Brazil

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

DNA tests probe the genomic ancestry of Brazilians

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Newborn screening: what pediatricians should know

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: utility and applications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Prenatal exposure to misoprostol and congenital anomalies: systematic review and meta-analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

The ancestry of Brazilian mtDNA lineages

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Prevalence of lysosomal storage disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Ethnic-affiliation estimation by use of population-specific DNA markers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Genetic effects in Brazilian populations due to consanguineous marriages

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Worldwide survey of neonatal screening for biotinidase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

Clinical epidemiology of skeletal dysplasias in South America.

5 July 2018

1 reference

The genetic structure of human populations studied through short insertion-deletion polymorphisms

21 January 2018

1 reference

Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency

21 January 2018

1 reference

Newborn screening: a national public health programme in Brazil.

21 January 2018

1 reference

Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil

21 January 2018

1 reference

Exposure to misoprostol and hormones during pregnancy and risk of congenital anomalies

21 January 2018

1 reference

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

21 January 2018

1 reference

Birth defects and health strategies in Brazil: an overview

21 January 2018

1 reference

Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil.

21 January 2018

1 reference

Afro-derived Amazonian populations: inferring continental ancestry and population substructure

21 January 2018

1 reference

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

21 January 2018

1 reference

Analysis of genetic ancestry in the admixed Brazilian population from Rio de Janeiro using 46 autosomal ancestry-informative indel markers

21 January 2018

1 reference

A three-year follow-up of congenital adrenal hyperplasia newborn screening

21 January 2018

1 reference

Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients

21 January 2018

1 reference

Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel.

21 January 2018

1 reference

The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás

21 January 2018

1 reference

Consanguineous unions and the burden of disability: a population-based study in communities of Northeastern Brazil.

21 January 2018

1 reference

Delivering genetic education and genetic counseling for rare diseases in rural Brazil

21 January 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4113268

29 October 2018

Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies

21 January 2018

1 reference

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

21 January 2018

1 reference

Estimates of interethnic admixture in the Brazilian population using a panel of 24 X-linked insertion/deletion markers

21 January 2018

1 reference

12 December 2020

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

1 reference

12 December 2020

Types of marriages, population structure and genetic disease

1 reference

12 December 2020

Polymorphisms at regions 1p22.1 (rs560426) and 8q24 (rs1530300) are risk markers for nonsyndromic cleft lip and/or palate in the Brazilian population

1 reference

12 December 2020

[Evaluation of the Neonatal Screening Program for congenital hypothyroidism and phenylketonuria in the State of Mato Grosso, Brazil]

1 reference

12 December 2020

[Birth defects in Rio de Janeiro, Brazil: an evaluation through birth certificates (2000-2004)]

1 reference

12 December 2020

1 reference

12 December 2020

Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry

1 reference

12 December 2020

Clinical genetics in developing countries: the case of Brazil

1 reference

12 December 2020

[Prevalence of disorders detected by newborn screening in Santa Catarina]

1 reference

12 December 2020

Identifiers

DOI

10.1002/MGG3.95

1 reference

30 July 2017

1 reference

30 July 2017

1 reference