Results 101 to 110 of about 52,117 (235)
Estrone and estradiol concentrations in human ovaries, testes, and adrenals during the first two years of life [PDF]
, 1987 To determine the origin of estrogens in infant blood, we measured estrone (E1) and estradiol (E2) in the gonads of 50 girls and 64 boys who died suddenly between birth and 2 yr of age as well as in the adrenals of 18 of these infant girls and 16 of the ...
Bidlingmaier, F. +4 more
core +1 more source
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +1 more source
Can recombinant growth hormone effectively treat idiopathic short stature? [PDF]
, 2008 Yes--treatment can increase a child's final height. Injections of recombinant human growth hormone (rGH) at least 3 times a week for 4 to 6 years add 3.7 to 7.5 cm to final height in children between 8 and 16 years of age with idiopathic short stature ...
Mackler, Leslie +2 more
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Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment [PDF]
Estudos realizados em pacientes portadores de deleções parciais dos cromossomos sexuais permitiram a caracterização do SHOX, gene localizado na região pseudoautossômica no braço curto dos cromossomos sexuais, fundamental na determinação da altura normal.
ARNHOLD, Ivo J. P. +5 more
core +1 more source
Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon [PDF]
, 2010 Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Clark, AJL +4 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus +5 more
wiley +1 more source
Behavioral evaluation of GH treatment in short statured children and adolescents: Findings from a pilot study [PDF]
, 2018 A cohort of 93 short-statured children and adolescents undergoing GH treatment were evaluated with respect to behavior, emotions, and attitudes. The sample consisted of patients suffering from either idiopathic GH deficiency or neurosecretory dysfunction
Dörr, H., Malin, Z., Steinhausen, H.
core
Craniofacial morphology in Turner syndrome patients treated with growth hormone [PDF]
, 2015 Introduction: In addition to well-established physical characteristics, Turner syndrome patients have distinct craniofacial morphology. Since short stature is the most typical characteristic, Turner syndrome patients are commonly treated with growth ...
Branislav Glisic +5 more
core +3 more sources
Comparative efficacy of mono- and combined therapy for idiopathic short stature with delayed puberty
Mìžnarodnij Endokrinologìčnij Žurnal, 2018 Background. Growth hormone therapy for idiopathic short stature (ISS) is a subject of debate, because of the heterogeneous endocrine profile in these children.
G.N. Rakhimova, K.N. Gilyazetdinov
doaj +1 more source
Journal of Pediatrics Review, 2022 Background: Short stature is a common problem encountered by endocrinologists. Short stature may be due to normal variations of growth or pathologic process.
Vahid Sheikhi +2 more
doaj