List of works - Maricilda Palandi de Mello

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

scientific article published on November 2010

A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis

scientific article published on 24 March 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.

scientific article

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

scientific article published on 9 November 2015

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

scientific article published on 18 November 2015

A study of splicing mutations in disorders of sex development

scientific article published on 24 November 2017

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

scientific article

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

scientific article published in January 2003

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

scientific article published on May 2004

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

scientific article published on 6 October 2011

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

scientific article published on 3 May 2017

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

scientific article published on 17 August 2017

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

scientific article published in February 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

scientific article published on 13 October 2017

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

scientific article published on December 2015

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

scientific article published on 01 December 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

scientific article published on 7 July 2014

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

scientific article

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

scientific article published on 19 December 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.

scientific article published on 12 July 2017

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

scientific article

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

scientific article published on 13 April 2014

Pharmacogenetics of Risperidone and Cardiovascular Risk in Children and Adolescents

scientific article published on 6 January 2016

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

scientific article published on November 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

scientific article published on 13 September 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

scientific article

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

scientific article

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

scientific article published on 22 October 2013

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

scientific article published on 4 December 2007

List of works by 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