Results 21 to 30 of about 3,629,719 (185)
Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report [PDF]
Italian Journal of Pediatrics, 2017 Background Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation.
Stefania Moia +6 more
doaj +3 more sources
[PROVISIONAL] Growth Hormone Insensitivity (Laron syndrome): report of a new family and review of Brazilian patients [PDF]
Genetics and Molecular Biology, 2020 Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1 ...
Thais R. Villela +6 more
doaj +3 more sources
Effectiveness and safety of rhIGF1 therapy in patients with or without Laron syndrome. [PDF]
Eur J Endocrinol, 2021 Objective The European Increlex® Growth Forum Database Registry monitors the effectiveness and safety of recombinant human insulin-like growth factor-1 (rhIGF1; mecasermin, Increlex®) therapy in patients with severe primary IGF1 deficiency (SPIGFD).
Bang P +4 more
europepmc +2 more sources
Treatment for Infertility in Laron Syndrome: A Case Report. [PDF]
Cureus, 2022 Laron syndrome is a rare, genetic, growth hormone insensitivity disorder caused by mutations in the growth hormone receptor gene. Affected patients have severe postnatal growth failure, characteristic facial features, and metabolic abnormalities ...
Alhazidou E +4 more
europepmc +2 more sources
Focal Epilepsy in Individuals with Laron Syndrome.
Horm Res Paediatr, 2022 Objective: The aim of the study was to describe focal epilepsy in patients with Laron syndrome (LS). Methods: Data were retrieved from medical records of a single-center cohort of 75 patients with LS.
Goldberg L +5 more
europepmc +2 more sources
Marjolin’s Ulcer in Laron Syndrome - an Unexpected Combination: A Case Report [PDF]
Malaysian Orthopaedic Journal, 2020 Marjolin’s ulcer is an atypical malignancy that develops from deep scars of chronically traumatised skin. Laron syndrome (LS) is a rare autosomal recessive growth retardation from a mutation in the growth hormone receptor (GHR) gene leading to ...
de la Paz EM
doaj +2 more sources
Horm Res PaediatrIntroduction: Laron syndrome (LS) is a rare autosomal recessive disorder caused by mutations in the growth hormone (GH) receptor gene, resulting in GH resistance and reduced levels of insulin-like growth factor 1 (IGF-1).
Alashwal AA +4 more
europepmc +2 more sources
MicroRNA 132-3p Is Upregulated in Laron Syndrome Patients and Controls Longevity Gene Expression. [PDF]
Int J Mol Sci, 2021 The growth hormone (GH)–insulin-like growth factor-1 (IGF1) endocrine axis is a central player in normal growth and metabolism as well as in a number of pathologies, including cancer.
Yaron-Saminsky D +5 more
europepmc +2 more sources
Journal of Postgraduate Medicine, 2014 Laron syndrome is a rare form of short stature that results from the body's inability to use growth hormone, a substance produced by the brain's pituitary gland that helps promote growth.
S, Guleria, J, Sharma, S L, Kaushik
openaire +3 more sources
Laron syndrome: clinic, diagnostics (а clinical case)
Mìžnarodnij Endokrinologìčnij Žurnal, 2022 The combination of normal/high levels of somatotropic hormone with low levels of insulin-like growth factor-1 is characteristic of impaired receptor sensitivity to somatotropic hormone, a rare genetically determined syndrome described by Israeli ...
P.M. Lіashuk +3 more
doaj +2 more sources