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List of works by Gil Guerra-Junior

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

scientific article

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

scientific article

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

scientific article published on 06 April 2010

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

scientific article published on 01 August 2011

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

scientific article published on 05 May 2016

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

scientific article published on 17 April 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.

scientific article

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

scientific article published on 29 June 2016

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

scientific article published on 13 March 2009

Bone quantity and quality in Brazilian female schoolchildren and adolescents

scientific article published on 27 March 2009

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

scientific article published on 4 June 2015

Cardiovascular and renal anomalies in Turner syndrome

scientific article

Central precocious puberty: revisiting the diagnosis and therapeutic management.

scientific article published on April 2016

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

scientific article published on 12 December 2011

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

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

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency ⬇️

scientific article published on November 1, 2012

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

scientific article published on 8 January 2018

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

scientific article published on 27 August 2010

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

scientific article published on 5 January 2016

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

scientific article published in February 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

scientific article published on 6 October 2011

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

Congenital perineal lipoma presenting as ambiguous genitalia.

scientific article published on 14 August 2008

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

scientific article published on 3 May 2017

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

scientific article published on 21 February 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.

scientific article

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

scientific article published on January 2008

Diabetic ketoacidosis in children: treatment profile at a university hospital

scientific article published in November 2008

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

scientific article

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

scientific article published on 09 August 2018

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

scientific article published on 13 October 2014

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

Evaluation of insulin resistance and lipid profile in turner syndrome

scientific article published in April 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.

scientific article published in July 2006

Frasier syndrome: four new cases with unusual presentations.

scientific article published in November 2012

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

scientific article

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.

scientific article published on 6 June 2014

Growth and body composition in Brazilian female rhythmic gymnastics athletes

scientific article published on 17 June 2014

Growth curves for girls with Turner syndrome

scientific article

Growth curves in Down syndrome: implications for clinical practice.

scientific article

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

scientific article published on 01 December 2001

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

scientific article

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 ⬇️

scientific article published on 01 November 2011

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

scientific article published on 12 September 2019

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

scientific article

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

scientific article published in April 2008

Klinefelter syndrome: an unusual diagnosis in pediatric patients.

scientific article

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

scientific article published on 3 September 2015

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

scientific article

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

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

scientific article

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.

scientific article

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

scientific article

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

scientific article published on 11 November 2015

NPHS2 Mutations: A Closer Look to Latin American Countries.

scientific article published on 12 July 2017

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

scientific article published on 29 September 2015

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

scientific article

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

scientific article published on 14 January 2016

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Ovotesticular disorder of sex development with unusual karyotype: patient report

scientific article published on 01 May 2015

Parents' experiences of having a baby with ambiguous genitalia

scientific article published on 01 July 2015

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

scientific article published on November 1, 2010

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

scientific article published in September 2014

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

scientific article published on 08 June 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

scientific article published on 01 November 2012

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

scientific article published on 06 November 2020

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

scientific article published on 13 September 2019

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

scientific article

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

scientific article

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

scientific article published on November 2010

Social skills in women with Turner Syndrome

scientific article published on 28 April 2011

Spontaneous puberty in girls with early diagnosis of Turner syndrome

scientific article published on 01 December 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 inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome

scientific article published in December 2009

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

scientific article published on 26 November 2013

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

scientific article

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

scientific article published in December 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.

scientific article

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

scientific article published on 11 March 2016

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

scientific article

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

scientific article published on 4 December 2007

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

scientific article published on 01 February 2005

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

scientific article published on 01 May 2009

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

scientific article

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

scientific article published on 01 December 2005

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

scientific article published on 01 December 2005

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

scientific article

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

scientific article published on 01 February 2005

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

scientific article

[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]

scientific article published on 01 June 2005

[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]

scientific article published on 01 June 2014

[True hermaphroditism: experience with 36 patients]

scientific article published on 01 February 2005

[XX male: 3 case reports during childhood]

scientific article published on 01 February 2005

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