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Lista de obras de Gil Guerra-Junior

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

artículo científico publicado en 2016

46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis.

artículo científico publicado en 2010

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

artículo científico publicado en 2010

Abnormalities in body composition and nutritional status in HIV-infected children and adolescents on antiretroviral therapy

artículo científico publicado en 2011

Accuracy of Body Mass Index Cutoffs for Classifying Obesity in Chilean Children and Adolescents

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Adrenal function in 23 children with paracoccidioidomycosis

scientific article published on 01 November 2006

Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.

artículo científico publicado en 2012

Body mass index reference charts for individuals with Down syndrome aged 2-18 years

artículo científico publicado en 2016

Bone mass in schoolchildren in Brazil: the effect of racial miscegenation, pubertal stage, and socioeconomic differences

artículo científico publicado en 2009

Bone quantity and quality in Brazilian female schoolchildren and adolescents

artículo científico publicado en 2009

Brazilian pediatric reference data for quantitative ultrasound of phalanges according to gender, age, height and weight.

artículo científico publicado en 2015

Cardiovascular and renal anomalies in Turner syndrome

artículo científico publicado en 2010

Central precocious puberty: revisiting the diagnosis and therapeutic management.

artículo científico publicado en 2016

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency.

artículo científico publicado en 2011

Clinical and genetic findings of five patients with WT1-related disorders

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.

artículo científico publicado en 2018

Comparison of bone quantity by ultrasound measurements of phalanges between white and black children living in Paraná, Brazil, with Europeans

artículo científico publicado en 2010

Competitive Swimming and Handball Participation Have a Positive Influence on Bone Parameters as Assessed by Phalangeal Quantitative Ultrasound in Female Adolescents

artículo científico publicado en 2016

Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency

artículo científico publicado en 2009

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study

article

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

artículo científico publicado en 2011

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

Congenital perineal lipoma presenting as ambiguous genitalia.

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Cranial radiotherapy predisposes to abdominal adiposity in survivors of childhood acute lymphocytic leukemia

artículo científico publicado en 2013

Cross-sectional study of the association of body composition and physical fitness with bone status in children and adolescents from 11 to 16 years old.

artículo científico publicado en 2013

Detection of metabolic syndrome features among childhood cancer survivors: a target to prevent disease.

artículo científico publicado en 2008

Diabetic ketoacidosis in children: treatment profile at a university hospital

artículo científico publicado en 2008

Disorders of sex development and hypogonadism: genetics, mechanism, and therapies.

artículo científico publicado en 2012

EFFECTIVENESS OF OBESITY INTERVENTION PROGRAMS BASED ON GUIDELINES FOR ADOLESCENT STUDENTS: SYSTEMATIC REVIEW

artículo científico publicado en 2018

Effects of programmed physical activity on body composition in post-pubertal schoolchildren

artículo científico publicado en 2014

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

Evaluation of insulin resistance and lipid profile in turner syndrome

artículo científico publicado en 2005

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

Female counterpart of shawl scrotum in Aarskog-Scott syndrome.

artículo científico publicado en 2006

Frasier syndrome: four new cases with unusual presentations.

artículo científico publicado en 2012

Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism.

artículo científico publicado en 2014

Growth and body composition in Brazilian female rhythmic gymnastics athletes

artículo científico publicado en 2014

Growth curves for girls with Turner syndrome

artículo científico publicado en 2014

Growth curves in Down syndrome: implications for clinical practice.

artículo científico publicado en 2013

Growth hormone effect on body composition in Turner syndrome

article

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

Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency.

artículo científico publicado en 2014

Idiopathic male pseudohermaphroditism is associated with prenatal growth retardation

scientific article published on 12 February 2005

Influence of body composition on bone mass in children and adolescents ⬇️

artículo científico publicado el 1 de noviembre de 2011

Influence of physical training on bone mineral density in healthy young adults: a systematic review

artículo científico publicado en 2019

Influence of programmed physical activity on body composition among adolescent students.

artículo científico publicado en 2009

Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients

artículo científico publicado en 2008

Klinefelter syndrome: an unusual diagnosis in pediatric patients.

artículo científico publicado en 2012

Lipomatous nevus and urethral caruncle mistaken for ambiguous genitalia in a female infant.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole.

artículo científico publicado en 2008

Methods for data analysis of resting energy expenditure measured using indirect calorimetry

scientific article published on 31 July 2018

Minimum Time to Achieve the Steady State and Optimum Abbreviated Period to Estimate the Resting Energy Expenditure by Indirect Calorimetry in Healthy Young Adults.

artículo científico publicado en 2016

Mutation update for the NR5A1 gene involved in DSD and infertility

scientific article published on 27 September 2019

Mutations in NR5A1 associated with ovarian insufficiency

artículo científico publicado en 2009

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described

artículo científico publicado en 2015

NPHS2 Mutations: A Closer Look to Latin American Countries.

artículo científico publicado en 2017

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome

artículo científico publicado en 2016

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

artículo científico publicado en 2005

Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency

artículo científico publicado en 2011

Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

scientific article published on 01 November 2010

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency

artículo científico publicado en 2010

Overweight and obesity in children and adolescents with Down syndrome-prevalence, determinants, consequences, and interventions: A literature review

artículo científico publicado en 2016

Ovotesticular disorder of sex development with unusual karyotype: patient report

artículo científico publicado en 2015

Parents' experiences of having a baby with ambiguous genitalia

artículo científico publicado en 2015

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

Predicting the rate of oxygen uptake from step counts using ActiGraph waist-worn accelerometers in adults with Down syndrome

artículo científico publicado en 2020

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

scientific article published on 15 November 2014

Prevalence of genital abnormalities in neonates

artículo científico publicado en 2012

Prevalence of overweight in adolescents from a Southern Brazilian city according to different anthropometric indexes

artículo científico publicado en 2020

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

artículo científico publicado en 2019

Secular trends of height, weight and BMI in young adult Brazilian military students in the 20th century

artículo científico publicado en 2013

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family.

artículo científico publicado en 2011

Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil.

artículo científico publicado en 2010

Social skills in women with Turner Syndrome

artículo científico publicado en 2011

Spontaneous puberty in girls with early diagnosis of Turner syndrome

artículo científico publicado en 2012

The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers

article

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

scientific journal article

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis

artículo científico publicado en 2013

The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies.

artículo científico publicado en 2012

True agonadism: report of a case analyzed with Y-specific DNA probes.

artículo científico publicado en 1991

Turner syndrome and metabolic derangements: Another example of fetal programming

scientific article published on 29 July 2011

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

article

Two Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β): Clinical, Biochemical, and Molecular Data.

artículo científico publicado en 2015

Validity of Bioelectrical Impedance Analysis to Estimation Fat-Free Mass in the Army Cadets.

artículo científico publicado en 2016

Visfatin is a positive predictor of bone mineral density in young survivors of acute lymphocytic leukemia.

artículo científico publicado en 2015

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

artículo científico publicado en 2007

[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)]

artículo científico publicado en 2005

[Antropometry, sexual maturation and menarcheal age according to socioeconomic status of schoolgirls from Cascavel (PR)]

artículo científico publicado en 2009

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

artículo científico publicado en 2005

[Chronic renal failure and growth hormone: effects on GH-IGF axis and leptin]

artículo científico publicado en 2005

[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: final height in 27 patients with the classical form]

artículo científico publicado en 2005

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

artículo científico publicado en 2007

[Feminizing genitoplasty and congenital adrenal hyperplasia: analysis of anatomical results]

artículo científico publicado en 2005

[GH/IGF-1 and cancer: what's new in this association].

artículo científico publicado en 2005

[New christians in the Northeast area and the dwarfs of Orobó, Pernambuco, Brazil: a the molecular genetic linked to History of Brazil].

artículo científico publicado en 2005

[Nutritional status of white and black schoolchildren in the south of Brazil]

scientific article published on 01 March 2009

[Pubertal growth and final height in 40 patients with type 1 diabetes mellitus]

artículo científico publicado en 2005

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

artículo científico publicado en 2009

[The use of FISH on buccal smear to investigate mosaicism with a 45,X cell line: study on healthy men and patients with disorders of sex development]

artículo científico publicado en 2014

[True hermaphroditism: experience with 36 patients]

artículo científico publicado en 2005

[XX male: 3 case reports during childhood]

artículo científico publicado en 2005

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