List of works - Sofia Helena Valente Lemos-Marini

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.

scientific article

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

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency

article

Accuracy of anthropometric measurements in estimating fat mass in individuals with 21-hydroxylase deficiency

scientific article published on 17 April 2012

Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.

scientific article published in November 2008

Clinical and laboratory profile of pediatric and adolescent patients with type 1 diabetes.

scientific article published on 9 November 2009

Composição corporal em mulheres com deficiência da 21-hidroxilase: comparação dos métodos antropométricos e de impedância bioelétrica em relação a um grupo controle

scientific article published on 01 March 2010

Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

scientific article published on 29 May 2012

Fat Distribution and Lipid Profile of Young Adults with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Enzyme Deficiency

scientific article published on 14 September 2020

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

scientific article published on 19 September 2016

H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency

scientific article published on 01 December 2001

Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.

scientific article published in November 2008

Labioscrotal island flap in feminizing genitoplasty.

scientific article published in July 2004

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

scientific article published on 01 November 2010

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

Prader-Willi syndrome: a case report with atypical developmental features.

scientific article published in September 2014

Prevalência e aspectos clínicos da associação de diabetes melito tipo 1 e doença celíaca

scientific article published on 01 June 2008

Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-Deoxycortisol in Classic Congenital Adrenal Hyperplasia: Clinical and Hormonal Correlations and Identification of Patients with 11β-Hydroxylase Deficiency among a Large Group with Alleged 21-Hyd

scientific article published on 21 March 2006

Spontaneous puberty in girls with early diagnosis of Turner syndrome

scientific article published on 01 December 2012

Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.

scientific article published on November 2010

Turner syndrome: a pediatric diagnosis frequently made by non-pediatricians

article

[Body proportions in a group of Brazilian patients with Turner Syndrome].

scientific article

[Evidences for subclinic chronic autoimmune thyroid disease in girls with Turner Syndrome].

scientific article

[Growth and body composition of a cohort of children and adolescents with type 1 diabetes].

scientific article published in November 2013

[The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome].

scientific article published in December 2009

[Turner syndrome: the patients' view]

scientific article published on 01 July 2004

List of works by Sofia Helena Valente Lemos-Marini

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.

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

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency

Accuracy of anthropometric measurements in estimating fat mass in individuals with 21-hydroxylase deficiency

Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene.

Clinical and laboratory profile of pediatric and adolescent patients with type 1 diabetes.

Composição corporal em mulheres com deficiência da 21-hidroxilase: comparação dos métodos antropométricos e de impedância bioelétrica em relação a um grupo controle

Estimation of percent body fat based on anthropometric measurements in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Fat Distribution and Lipid Profile of Young Adults with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Enzyme Deficiency

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

H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency

Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening.

Labioscrotal island flap in feminizing genitoplasty.

Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1

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

Prader-Willi syndrome: a case report with atypical developmental features.

Prevalência e aspectos clínicos da associação de diabetes melito tipo 1 e doença celíaca

Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-Deoxycortisol in Classic Congenital Adrenal Hyperplasia: Clinical and Hormonal Correlations and Identification of Patients with 11β-Hydroxylase Deficiency among a Large Group with Alleged 21-Hyd

Spontaneous puberty in girls with early diagnosis of Turner syndrome

Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.

Turner syndrome: a pediatric diagnosis frequently made by non-pediatricians

[Body proportions in a group of Brazilian patients with Turner Syndrome].

[Evidences for subclinic chronic autoimmune thyroid disease in girls with Turner Syndrome].

[Growth and body composition of a cohort of children and adolescents with type 1 diabetes].

[The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome].

[Turner syndrome: the patients' view]