Associated Papers
Genetics of Idiopathic Hypogonadotropic Hypogonadism.
Topaloğlu AK et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.
Ibrahim R et al.
Reproductive Biology, 2025
Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.
Kałużna M et al.
Endocrine Connections, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.
Poch A et al.
Molecular and Cellular Endocrinology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
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
Gene-environment interaction in functional hypothalamic amenorrhea.
Barbagallo F et al.
Frontiers in Endocrinology, 2024
A novel compound variant in GNRHR causing congenital idiopathic hypogonadotropic hypogonadism in a young male Korean patient.
Lee G et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
Applications of genomic research in pediatric endocrine diseases.
Kim JH et al.
Clinical and Experimental Pediatrics, 2023
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Fanis P et al.
International Journal of Molecular Sciences, 2023
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.
Srivastava P et al.
Frontiers in Genetics, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
GNRHR-related central hypogonadism with spontaneous recovery - case report.
Šmigoc Schweiger D et al.
Italian Journal of Pediatrics, 2022
Erratum to a partial loss-of-function variant in GNRNR gene in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Unknown Author
Translational Andrology and Urology, 2022
High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis.
Tesolin P et al.
Journal of Personalized Medicine, 2022
Review of human genetic and clinical studies directly relevant to GnRH signalling.
Seminara SB et al.
Journal of Neuroendocrinology, 2022
Genetics of cryptorchidism and testicular regression.
Elamo HP et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2022
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.
Wang Y et al.
Frontiers in Endocrinology, 2022
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA et al.
Frontiers in Endocrinology, 2022
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.
Ulloa-Aguirre A et al.
International Journal of Molecular Sciences, 2021
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
Saengkaew T et al.
European Journal of Endocrinology, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M et al.
Genes, 2021
[Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].
Makretskaya NA et al.
Problemy Endokrinologii, 2021
A partial loss-of-function variant in GNRNR gene in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Chen Y et al.
Translational Andrology and Urology, 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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA et al.
European Journal of Medical Genetics, 2019
Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.
Stamou MI et al.
Endocrine Connections, 2019
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
Cioppi F et al.
Andrology, 2019
Autosomal single-gene disorders involved in human infertility.
Jedidi I et al.
Saudi Journal of Biological Sciences, 2018
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D et al.
European Journal of Endocrinology, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.
Gonçalves CI et al.
Endocrine Connections, 2017
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.
Hietamäki J et al.
Plos One, 2017
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016