Associated Papers
Molecular Characterization of Adult-Type Lower-Grade Glioma (WHO Grade 1-3) with Targeted Next-Generation Sequencing: A Retrospective, Single-Institution Experience.
Pinamonti M et al.
Journal of Clinical Medicine, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Ancestry-Specific DNA Damage Repair Gene Mutations and Prostate Cancer.
Borbiev T et al.
Cancers, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Association of rare, recurrent nonsynonymous variants in the germline of prostate cancer patients of African ancestry.
Wei J et al.
The Prostate, 2023
Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor.
Walenkamp MJE et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
Buckingham L et al.
Hereditary Cancer in Clinical Practice, 2019
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
Cabrera-Salcedo C et al.
Hormone Research in Paediatrics, 2019
Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.
Rotwein P
The Journal of Biological Chemistry, 2017
Germline mutations of the DNA repair pathways in uterine serous carcinoma.
Frimer M et al.
Gynecologic Oncology, 2016
Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
Wang SR et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp).
Leal AC et al.
Clinical Endocrinology, 2013
Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
Walenkamp MJ et al.
Endocrine Development, 2013
[Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation].
Leal Ade C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2011
From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.
Pfäffle R et al.
Pediatric Endocrinology Reviews : Per, 2011
IGF1R mutations as cause of SGA.
Klammt J et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
IGF1R variants associated with isolated single suture craniosynostosis.
Cunningham ML et al.
American Journal of Medical Genetics. Part A, 2011