Kallmann Syndrome 5
What's New
Last Posted: Oct 01, 2024
- Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.
Josianne Nunes Carriço, et al. Human reproduction open 2024 0 (3) hoae053 - A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report.
Rong Jiang, et al. Clinical case reports 2024 0 (5) e8860 - Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.
Jianmei Zhang, et al. Frontiers in endocrinology 2024 0 1343977 - CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Isabelle Roux, et al. Human genetics 2023 0 - Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
Rossella Cannarella, et al. International journal of molecular sciences 2023 0 (8) - DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Bouilly Justine, et al. Human molecular genetics 2017 0 (2) 359-372 - Next-generation sequencing of patients with congenital anosmia.
Alkelai Anna, et al. European journal of human genetics : EJHG 2017 0 (12) 1377-1387 - Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations.
Nie Min, et al. European journal of endocrinology 2017 0 (4) 389-398 - Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome.
Hacquart Thomas, et al. Annales d'endocrinologie 2017 0 (5) 455-461 - Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism.
Zhou Chengming, et al. Fertility and sterility 2018 0 (3) 486-495.e5 - Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Kim Ja Hye, et al. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2018 0 (8) 538-544 - Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome.
Dai Wenting, et al. Gene 2019 0 99-106 - Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.
Yu Xiaoyu, et al. Neural plasticity 2020 0 8860837 - CHD7 missense variants and clinical characteristics of Chinese males with infertility.
Li Leilei, et al. Molecular genetics & genomic medicine 2020 0 (9) e1372 - Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.
Men Meichao, et al. Journal of medical genetics 2020 0 (1) 66-72 - Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience.
Cho Chih-Yi, et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2021 0 (1 Pt 1) 218-226 - Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series.
Danda Vijay Sheker Reddy, et al. Journal of reproduction & infertility 2021 0 (1) 38-46 - [Analysis of a patient with Kallmann syndrome and a 45,X/46,XY karyotype].
Ma Fuhui, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 0 (11) 1275-1278 - Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil Virendra A, et al. Clinical endocrinology 2022 0 (6) 804-813 - Reproductive phenotypes and genotypes in men with IHH.
Dwyer Andrew A, et al. The Journal of clinical endocrinology and metabolism 2022 0
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- Page last reviewed:Feb 1, 2024
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