Lista de obras - Sofia Helena Valente Lemos-Marini

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

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

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2001

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

artículo científico publicado en 2008

Labioscrotal island flap in feminizing genitoplasty.

artículo científico publicado en 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

artículo científico publicado en 2010

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

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

artículo científico publicado el 1 de noviembre de 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2006

Spontaneous puberty in girls with early diagnosis of Turner syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

article

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

[Turner syndrome: the patients' view]

artículo científico publicado en 2004

Lista de obras de 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.

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

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]