Lista de obras - Maricilda Palandi de Mello

46,XX male - testicular disorder of sexual differentiation (DSD): hormonal, molecular and cytogenetic studies

artículo científico publicado en 2010

A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis

artículo científico publicado en 2016

A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.

artículo científico publicado en 2016

A de novo mutation in CYP21A2 gene in a case of in vitro fertilization

artículo científico publicado en 2015

A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins

artículo científico publicado en 2015

A study of splicing mutations in disorders of sex development

artículo científico publicado en 2017

Association between the MTHFR A1298C polymorphism and increased risk of acute myeloid leukemia in Brazilian children.

artículo científico publicado en 2006

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

artículo científico publicado en 2003

Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations

artículo científico publicado en 2004

Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases

artículo científico publicado en 2011

Corrigendum to "Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents"

artículo científico publicado en 2017

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia

artículo científico publicado en 2017

Differential gene expression in response to copper in Acidithiobacillus ferrooxidans analyzed by RNA arbitrarily primed polymerase chain reaction

artículo científico publicado en 2002

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

scientific article published on 19 September 2016

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

artículo científico publicado en 2017

Hyperprolactinemia in Children and Adolescents with Use of Risperidone: Clinical and Molecular Genetics Aspects

artículo científico publicado en 2015

Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence

artículo científico publicado en 2002

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

artículo científico publicado en 2014

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males.

artículo científico publicado en 2014

Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development

artículo científico publicado en 2011

Mutation update for the NR5A1 gene involved in DSD and infertility

scientific article published on 27 September 2019

NPHS2 Mutations: A Closer Look to Latin American Countries.

artículo científico publicado en 2017

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

artículo científico publicado en 2016

Performance of phalangeal quantitative ultrasound parameters in the evaluation of reduced bone mineral density assessed by DX in patients with 21 hydroxylase deficiency.

artículo científico publicado en 2014

Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents

artículo científico publicado en 2016

Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation ⬇️

artículo científico publicado el 1 de noviembre de 2010

Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor

scientific article published on 15 November 2014

Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family

artículo científico publicado en 2019

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

artículo científico publicado en 2013

The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome

artículo científico publicado en 2010

Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria

artículo científico publicado en 2013

XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin

artículo científico publicado en 2007

Lista de obras de Maricilda Palandi de Mello

46,XX male - testicular disorder of sexual differentiation (DSD): hormonal, molecular and cytogenetic studies

A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis

A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency.

A de novo mutation in CYP21A2 gene in a case of in vitro fertilization

A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins

A study of splicing mutations in disorders of sex development

Association between the MTHFR A1298C polymorphism and increased risk of acute myeloid leukemia in Brazilian children.

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

Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations

Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases

Corrigendum to "Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents"

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia

Differential gene expression in response to copper in Acidithiobacillus ferrooxidans analyzed by RNA arbitrarily primed polymerase chain reaction

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

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

Hyperprolactinemia in Children and Adolescents with Use of Risperidone: Clinical and Molecular Genetics Aspects

Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence

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

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males.

Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development

Mutation update for the NR5A1 gene involved in DSD and infertility

NPHS2 Mutations: A Closer Look to Latin American Countries.

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

Performance of phalangeal quantitative ultrasound parameters in the evaluation of reduced bone mineral density assessed by DX in patients with 21 hydroxylase deficiency.

Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents

Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation ⬇️

Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor

Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome

Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria

XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin