Associated Papers
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.
Piai CB et al.
American Journal of Medical Genetics. Part A, 2025
Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.
Rezende RC et al.
European Journal of Endocrinology, 2025
Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.
Wit JM et al.
Hormone Research in Paediatrics, 2021
Heterozygous rare genetic variants in non-syndromic early-onset obesity.
Serra-Juhé C et al.
International Journal of Obesity (2005), 2020
30926952 (PubMed )
Supplement: 41366_2019_357_MOESM6_ESM.xlsx › Suppl_2_Controls_RSVs
Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.
Barroso PS et al.
Neuroendocrinology, 2020
The growth hormone secretagogue receptor: its intracellular signaling and regulation.
Yin Y et al.
International Journal of Molecular Sciences, 2014
Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population.
Hess O et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
Spectrum of insulin-like growth factor deficiency.
Wit JM et al.
Endocrine Development, 2012
Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.
Pugliese-Pires PN et al.
European Journal of Endocrinology, 2011
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