Elisangela S. Quedas

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 11 publications

Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.

Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.

Journal: Journal of clinical lipidology

Published: February 01, 2025

Clinical Characteristics of Children with THRA Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy.

Clinical Characteristics of Children with THRA Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy.

Journal: Hormone research in paediatrics

Published: January 26, 2024

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.

Journal: Hormone research in paediatrics

Published: October 29, 2021

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

Journal: American journal of medical genetics. Part A

Published: September 02, 2020

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

Journal: Hormone research in paediatrics

Published: October 09, 2018

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Journal: European journal of endocrinology

Published: May 19, 2018

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 14, 2016

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.

Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society

Published: May 09, 2014

Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

Journal: Pediatric neurology

Published: October 01, 2013

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 05, 2013

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Journal: Clinics (Sao Paulo, Brazil)

Published: May 16, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026