Associated Papers
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD et al.
Hormone Research in Paediatrics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).
Cottrell E et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.
Cottrell E et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.
Li R et al.
Frontiers in Endocrinology, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients.
Chatterjee S et al.
Endocrine Connections, 2020
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
Shapiro L et al.
European Journal of Endocrinology, 2017
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.
Vairamani K et al.
Journal of the Endocrine Society, 2017
Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.
Grosse G et al.
Hormone Research in Paediatrics, 2017
IGF-I in human growth: lessons from defects in the GH-IGF-I axis.
Hwa V et al.
Nestle Nutrition Institute Workshop Series, 2013
A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.
Feigerlova E et al.
Hormone Research in Paediatrics, 2013
Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions.
Walenkamp MJ et al.
Hormone Research in Paediatrics, 2013
Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.
Marín S et al.
Hormone Research in Paediatrics, 2012
The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
Derr MA et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A et al.
Endocrine Reviews, 2011