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Recent Submissions

1. Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias

   SEXUAL DEVELOPMENT, v.16, n.1, p.27-33, 2022

   Hypospadias is a common congenital disorder of male genital formation. Children born small for gestational age (SGA) present a high frequency of hypospadias of undetermined etiology. No previous study investigated the molecular etiology of hypospadias in boys born SGA using massively parallel seq...

2. RESPONSE TO RHGH THERAPY IN SHORT CHILDREN BORN AT VERY LOW BIRTH WEIGHT

   HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.1, p.30-31, 2023

3. A systematic review of core outcomes reported in clinical trials of growth hormone therapy in children with growth hormone deficiency

   HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.4, p.323-323, 2023

4. Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes

   HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.4, p.71-71, 2023

5. Clinical predictors of good/poor response to growth hormone treatment (GHT) in children with idiopathic short stature (ISS)

   HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.4, p.285-285, 2023

6. Outcomes in growth hormone (GH)-treated Noonan syndrome (NS) children: impact of PTPN11 mutation status

   EUROPEAN JOURNAL OF HUMAN GENETICS, v.31, suppl.1, p.235-235, 2023

7. Retrospective Analysis of Individuals with Differences in Sex Development (DSD) in a Brazilian Single-Center Study Across the Lifespan

   HORMONE RESEARCH IN PAEDIATRICS, v.96, suppl.4, p.405-406, 2023

8. International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood

   ENDOCRINE REVIEWS, v.44, n.3, p.539-565, 2023

   This International Consensus Guideline was developed by experts in the field of small for gestational age (SGA) of 10 pediatric endocrine societies worldwide. A consensus meeting was held and 1300 articles formed the basis for discussions. All experts voted about the strengths of the recommendati...

9. Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability

   EUROPEAN JOURNAL OF ENDOCRINOLOGY, v.189, n.3, p.387-395, 2023

   Objective Our study aimed to assess the impact of genetic modifiers on the significant variation in phenotype that is observed in individuals with SHOX deficiency, which is the most prevalent monogenic cause of short stature.Design and methods We performed a genetic analysis in 98 individuals fro...

10. The Effect of Gene Editing by CRISPR-Cas9 of miR-21 and the Indirect Target MMP9 in Metastatic Prostate Cancer

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v.24, n.19, article ID 14847, 15p, 2023

    Prostate cancer (PCa) has a high prevalence and represents an important health problem, with an increased risk of metastasis. With the advance of CRISPR-Cas9 genome editing, new possibilities have been created for investigating PCa. The technique is effective in knockout oncogenes, reducing tumor...