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
Identification of Novel Genetic Variants in a Cohort of Congenital Hypogonadotropic Hypogonadism: Computational Analysis of Pathogenicity Predictions.
Chiarello P et al.
International Journal of Molecular Sciences, 2025
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Gene-environment interaction in functional hypothalamic amenorrhea.
Barbagallo F et al.
Frontiers in Endocrinology, 2024
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.
Globa E et al.
Frontiers in Endocrinology, 2022
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M et al.
Genes, 2021
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
Delaney A et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.
Stamou MI et al.
Endocrine Connections, 2019
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
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Xu C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Hebert E et al.
Genes, 2017
Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.
Stamou MI et al.
European Journal of Endocrinology, 2017
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro LC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
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
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.
Bilan F et al.
The Journal of Molecular Diagnostics : Jmd, 2012
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
Vuorela P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.
Gao X et al.
American Journal of Human Genetics, 2007