Associated Papers
Growth hormone treatment outcomes in children with genetic isolated growth hormone deficiency.
Aouchiche K et al.
European Journal of Pediatrics, 2025
A Novel Variant in an Intron Splicing Enhancer Associated with Familial Growth Hormone Deficiency.
Radovick S et al.
Hormone Research in Paediatrics, 2025
Genetic variations, clinical presentation and treatment outcome of isolated growth hormone deficiency type I and II: case series and review of the literature.
Li R et al.
Endocrine, 2025
Growth hormone deficiency due to a GH1 pathogenic variant.
Moszczyńska E et al.
Endokrynologia Polska, 2025
Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency.
Öztürk AP et al.
Hormone Research in Paediatrics, 2024
The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II.
Huang X et al.
Frontiers in Endocrinology, 2024
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.
Ahmad S et al.
Frontiers in Endocrinology, 2023
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.
Li X et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.
Labello JH et al.
Archives of Endocrinology and Metabolism, 2022
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
Blum WF et al.
Ebiomedicine, 2018
Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.
Kempers MJ et al.
Hormone Research in Paediatrics, 2013
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
de Graaff LC et al.
Clinical Endocrinology, 2009
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.
Shariat N et al.
Clinical Genetics, 2008
GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children.
Fofanova OV et al.
Bulletin of Experimental Biology and Medicine, 2006
Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.
Ryther RC et al.
Human Genetics, 2003
A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.
Fofanova OV et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002
A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.
Fofanova OV et al.
Hormones (athens, Greece), 0