Associated Papers
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.
Stamou MI et al.
Human Genetics, 2025
Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.
Kałużna M et al.
Endocrine Connections, 2025
Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.
Lattanzi R et al.
Life (basel, Switzerland), 2024
Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.
Villacis RAR et al.
International Journal of Molecular Sciences, 2024
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
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
Toward clinical exomes in diagnostics and management of male infertility.
Lillepea K et al.
American Journal of Human Genetics, 2024
The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study.
Gündüz R et al.
Women & Health, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Gene-environment interaction in functional hypothalamic amenorrhea.
Barbagallo F et al.
Frontiers in Endocrinology, 2024
Applications of genomic research in pediatric endocrine diseases.
Kim JH et al.
Clinical and Experimental Pediatrics, 2023
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
Kardelen AD et al.
Journal of Clinical Research in Pediatric Endocrinology, 2023
A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Wang X et al.
Human Molecular Genetics, 2023
Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.
Martinez-Mayer J et al.
Frontiers in Endocrinology, 2023
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G et al.
Plos One, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Tung ML et al.
Genes, 2022
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Sugisawa C et al.
Endocrine Journal, 2022
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.
Wang Y 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
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
Maron JL et al.
Jama Pediatrics, 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
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N et al.
Clinical Endocrinology, 2021
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
Stamou M et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.
Stamou MI et al.
Endocrine Connections, 2019
Memory T cells targeting oncogenic mutations detected in peripheral blood of epithelial cancer patients.
Cafri G et al.
Nature Communications, 2019
Evidence for a Common Genetic Origin of Classic and Milder Adult-Onset Forms of Isolated Hypogonadotropic Hypogonadism.
Cangiano B et al.
Journal of Clinical Medicine, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism.
Lippincott MF et al.
Journal of the Endocrine Society, 2018
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.
Cox KH et al.
Human Molecular Genetics, 2018
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.
McCormack SE et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.
Castinetti F et al.
European Journal of Endocrinology, 2016
Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.
Min L et al.
Neuroendocrinology, 2016
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
Choi JH et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Correa FA et al.
Endocrine Connections, 2015
Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.
Sbai O et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014
A novel KAL1 mutation is associated with combined pituitary hormone deficiency.
Takagi M et al.
Human Genome Variation, 2014
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
Sarfati J et al.
European Journal of Endocrinology, 2013
PROKR2 mutations in autosomal recessive Kallmann syndrome.
Tommiska J et al.
Fertility and Sterility, 2013