Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.
Kałużna M et al.
Frontiers in Endocrinology, 2024
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Roux I et al.
Human Genetics, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.
Hietamäki J et al.
Eclinicalmedicine, 2022
[Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism].
Xie Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M et al.
Genes, 2021
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.
Stuchlý J et al.
Scientific Reports, 2017
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
Balasubramanian R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Bergman JE et al.
Human Mutation, 2012
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
Wincent J et al.
Clinical Genetics, 2008