Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.
Wang Y et al.
Frontiers in Endocrinology, 2022
Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.
Ray M et al.
Bioscience Reports, 2021
34714320 (PubMed )
Supplement: BSR-2021-1865_supp.zip › BSR-2021-1865_suppS4.xlsx › PredictSNP1
Childhood growth of females with Kallmann syndrome and FGFR1 mutations.
Hero M et al.
Clinical Endocrinology, 2015
Fibroblast growth factor receptors, developmental corruption and malignant disease.
Kelleher FC et al.
Carcinogenesis, 2013
Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis.
Doss CG et al.
Applied & Translational Genomics, 2012
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
Laitinen EM et al.
Orphanet Journal of Rare Diseases, 2011
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
Genetic insights into human isolated gonadotropin deficiency.
Trarbach EB et al.
Pituitary, 2007
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
Trarbach EB et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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