Associated Papers
A rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature.
Alexandraki KI et al.
Endocrine, 2025
Sequencing of cerebrospinal fluid cell-free DNA facilitated early differential diagnosis of intramedullary spinal cord tumors.
Chai R et al.
Npj Precision Oncology, 2024
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical 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
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.
Kałużna M et al.
Genes, 2021
Distinct genomic profile in h. pylori-associated gastric cancer.
Zhang X et al.
Cancer Medicine, 2021
EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.
Jin R et al.
Frontiers in Oncology, 2021
Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly.
Stone SI et al.
Journal of the Endocrine Society, 2020
Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.
Chen Z et al.
Molecular Genetics & Genomic Medicine, 2020
Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.
Men M et al.
Fertility and Sterility, 2020
Live birth in male de novo Kallmann syndrome after cross-generational genetic sequencing.
Chan C et al.
Journal of Assisted Reproduction and Genetics, 2019
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
ARID1B alterations identify aggressive tumors in neuroblastoma.
Lee SH et al.
Oncotarget, 2017
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
Hong S et al.
Human Molecular Genetics, 2016
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Correa FA et al.
Endocrine Connections, 2015
Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
Izumi Y et al.
Fertility and Sterility, 2014
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.
Fukami M et al.
Endocrine Journal, 2013
Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis.
Doss CG et al.
Applied & Translational Genomics, 2012
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Molecular pathogenesis of Kallmann's syndrome.
Cadman SM et al.
Hormone Research, 2007
Genetic insights into human isolated gonadotropin deficiency.
Trarbach EB et al.
Pituitary, 2007
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N et al.
Molecular and Cellular Endocrinology, 2006
Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.
Tsai PS et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
Albuisson J et al.
Human Mutation, 2005
Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis.
de Roux N
Hormone Research, 2005