Associated Papers
Mapping the Functional Epitopes of Human Growth Hormone: Integrating Structural and Evolutionary Data with Clinical Variants.
Verma S et al.
Current Issues in Molecular Biology, 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
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
Short Stature due to Bioinactive Growth Hormone (Kowarski Syndrome).
Karaoglan M
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma.
Tang J et al.
Genome Medicine, 2021
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.
Wit JM et al.
Hormone Research in Paediatrics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Polymorphism of the growth hormone gene GH1 in Polish children and adolescents with short stature.
Majewska KA et al.
Endocrine, 2020
p.R209H GH1 variant challenges short stature assessment.
Sanguineti N et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2020
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.
Pérez Millán MI et al.
Molecular Genetics & Genomic Medicine, 2018
The New Genomics: What Molecular Databases Can Tell Us About Human Population Variation and Endocrine Disease.
Rotwein P
Endocrinology, 2017
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
Alatzoglou KS et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
de Graaff LC et al.
Clinical Endocrinology, 2009
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