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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

Clinical biochemistry, 2019-11, Vol.73, p.50-56

2019

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In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2015-01, Vol.82 (1), p.37-44

2015

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Association between serotonin 2C receptor gene (HTR2C) polymorphisms and psychopathological symptoms in children and adolescents

Brazilian journal of medical and biological research, 2018-01, Vol.51 (8), p.e7252-e7252

2018

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Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients

The journal of clinical endocrinology and metabolism, 2008-06, Vol.93 (6), p.2416-2420

2008

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OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences

Human reproduction (Oxford), 2011-12, Vol.26 (12), p.3450-3455

2011

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The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia

Clinical genetics, 2013-11, Vol.84 (5), p.482-488

2013

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THE BRAZILIAN PAYROLL LENDING EXPERIMENT

The review of economics and statistics, 2012-11, Vol.94 (4), p.925-934

2012

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Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

Clinical endocrinology (Oxford), 2012-05, Vol.76 (5), p.766-768

2012

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Do Public Banks Compete with Private Banks? Evidence from Concentrated Local Markets in Brazil

Journal of money, credit and banking, 2013-12, Vol.45 (8), p.1581-1615

2013

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The effects of exposure to hyperinflation on occupational choice

Journal of economic behavior & organization, 2014-10, Vol.106, p.109-123

2014

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Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

International Journal of Endocrinology, 2016-01, Vol.2016, p.4209670-10

2016

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Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

Journal of applied genetics, 2010, Vol.51 (2), p.223-224

2010

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The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46, XY disorder of sex development

Brazilian journal of medical and biological research, 2011-04, Vol.44 (4), p.361-365

2011

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Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes

Journal of molecular medicine (Berlin, Germany), 2002-12, Vol.80 (12), p.782-790

2002

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Revisiting the Brazilian scenario of registry and protection of cultivars: an analysis of the period from 1998 to 2010, its dynamics and leqai observations

Genetics and molecular research, 2011-01, Vol.10 (2), p.792-809

2011

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Q289P Mutation in FGFR2 Gene Causes Saethre-Chotzen Syndrome: Some Considerations About Familial Heterogeneity

The Cleft palate-craniofacial journal, 2006-03, Vol.43 (2), p.142-147

2006

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Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density

Journal of bone and mineral metabolism, 2003-01, Vol.21 (6), p.396-401

2003

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Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis

Brazilian journal of medical and biological research, 2005-01, Vol.38 (1), p.17-25

2005

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A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal

Journal of endocrinological investigation, 2005-07, Vol.28 (7), p.651-656

2005

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Iron-regulated proteins in Phanerochaete chrysosporium and Lentinula edodes: Differential analysis by sodium dodecyl sulfate polyacrylamide gel electrophoresis and two-dimensional polyacrylamide gel electrophoresis profiles

Electrophoresis, 2002-02, Vol.23 (4), p.655-661

2002

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Molecular characterization of Acidithiobacillus ferrooxidans and A. thiooxidans strains isolated from mine wastes in Brazil

Antonie van Leeuwenhoek, 2001-10, Vol.80 (1), p.65-75

2001

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Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism

Archives of pathology & laboratory medicine (1976), 2001-05, Vol.125 (5), p.652-656

2001

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Genetic variation and relationships at six VNTR loci in two distinct sample populations in Brazil

Annals of human biology, 2004-11, Vol.31 (6), p.660-668

2004

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Clinical Findings in Four Brazilian Families Affected by Saethre-Chotzen Syndrome without TWIST Mutations

The Cleft palate-craniofacial journal, 2004-05, Vol.41 (3), p.250-255

2004

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Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis

Journal of pediatric endocrinology & metabolism : JPEM, 1999-05, Vol.12 (3), p.455

1999

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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Association between serotonin 2C receptor gene (HTR2C) polymorphisms and psychopathological symptoms in children and adolescents

Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients

OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences

The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia

THE BRAZILIAN PAYROLL LENDING EXPERIMENT

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

Do Public Banks Compete with Private Banks? Evidence from Concentrated Local Markets in Brazil

The effects of exposure to hyperinflation on occupational choice

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46, XY disorder of sex development

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes

Revisiting the Brazilian scenario of registry and protection of cultivars: an analysis of the period from 1998 to 2010, its dynamics and leqai observations

Q289P Mutation in FGFR2 Gene Causes Saethre-Chotzen Syndrome: Some Considerations About Familial Heterogeneity

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis

A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal

Iron-regulated proteins in Phanerochaete chrysosporium and Lentinula edodes: Differential analysis by sodium dodecyl sulfate polyacrylamide gel electrophoresis and two-dimensional polyacrylamide gel electrophoresis profiles

Molecular characterization of Acidithiobacillus ferrooxidans and A. thiooxidans strains isolated from mine wastes in Brazil

Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism

Genetic variation and relationships at six VNTR loci in two distinct sample populations in Brazil

Clinical Findings in Four Brazilian Families Affected by Saethre-Chotzen Syndrome without TWIST Mutations

Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis

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