Associated Papers
Isolated Congenital Anosmia: Case Report and Literature Review.
Alotaibi NH et al.
Ear, Nose, & Throat Journal, 2025
Genetic Variants in KNDy Pathway Lack Association with Premature Ovarian Insufficiency in Mexican Women: A Sequencing-Based Cohort Study.
Ruiz A et al.
Genes, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight.
Reshetnikova Y et al.
Life (basel, Switzerland), 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
Candidate genes for age at menarche are associated with endometrial hyperplasia.
Ponomarenko I et al.
Gene, 2020
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.
Sproll P et al.
Molecular Genetics & Genomic Medicine, 2018
rs4889 polymorphism in KISS1 gene, its effect on polycystic ovary syndrome development and anthropometric and hormonal parameters in Saudi women.
Albalawi FS et al.
Journal of Biomedical Science, 2018
Computational study of putative functional variants in human kisspeptin.
Samadian E et al.
Journal, Genetic Engineering & Biotechnology, 2017
Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty.
Ortiz-Cabrera NV et al.
Hormone Research in Paediatrics, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.
Gu WJ et al.
Experimental Biology and Medicine (maywood, N.j.), 2015
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Mutations in KISS1 are not responsible for idiopathic hypogonadotropic hypogonadism in Chinese patients.
Zhang Y et al.
Journal of Assisted Reproduction and Genetics, 2015
KISS1 gene polymorphisms in Korean girls with central precocious puberty.
Rhie YJ et al.
Journal of Korean Medical Science, 2014
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
DNA polymorphisms of the KiSS1 3' untranslated region interfere with the folding of a G-rich sequence into G-quadruplex.
Huijbregts L et al.
Molecular and Cellular Endocrinology, 2012
KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.
Ko JM et al.
Endocrine Journal, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Systemic dissemination in cancer of unknown primary is independent of mutational inactivation of the KiSS-1 metastasis-suppressor gene.
Dova L et al.
Pathology Oncology Research : Por, 2008
Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls.
Luan X et al.
European Journal of Endocrinology, 2007
Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.
Semple RK et al.
The Journal of Clinical Endocrinology and Metabolism, 2005