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疾病百科 > Kallmann综合征 > 相关文献
   临床研究 更多...
2014-11-19
Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants
Although some genes that cause Kallmann syndrome (KS) have been identified by traditional linkage analy...
男性 K a l l m a n n综合征的临床诊断与治疗分析 2014-11-19
目的: 探讨男性 K a l l m a n n综合征的诊断及治疗方法。  方法: 对1 2例 K a l l m a n n综合征患者的临床资料做回顾性分析。以...
2014-11-19
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
Objective: To determine if mutations in NELF, a gene isolated from migratory GnRH neurons, cause n...
   基础研究 更多...
2014-11-19
Evidence that FGFRl loss-of-fiinction mutations may cause variable skeletal malformations in patients with Kallmann syndrome
Purpose: Loss-of-function mutations in FGFRl have been identified in approximately 10% of the Kal...
2014-11-19
Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
Background: Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) a...
2014-11-19
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
background: Kallmann syndrome (KS) is a genetic disorder associating pubertal failure with congen...
   临床病例 更多...
2014-11-19
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1
Fibroblast growth factor receptor 1 (FGFR1) is one of the causative genes for Kallmann syndrome (KS), ...
2014-11-19
Abnormal CT temporal bone findings in a case of Kallmann syndrome presenting with conductive hearing loss
Kallmann syndrome is characterised by hypogonadotrophic hypogonadism and hyposmia. Sensorineural hearin...
2014-11-19
Clinical Features and Testicular Morphology in Patients with Kallmann Syndrome
Kallmann syndrome (KS) is a genetic disorder characterized by the simultaneous occurrence of idiopathic ...
   综述 更多...
2014-11-19
Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory
Idiopathic hypogonadotropic hypogonadism (IHH) is defined by absent or incomplete puberty and characteri...
Kallmann综合征分子遗传学研究进展 2014-11-19
MoleculargeneticsofKallmannsyndrome :Anupdate
Kallmann综合征( KS )是一种临床和遗传异质性疾病,呈家族性或散发性发病。KS是由胚胎时期嗅球、嗅束的异常发育致使 GnRH1神经细胞不能完成从鼻基板迁移至下丘脑这一过程所引起。GnRH分泌不足...
2014-11-19
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome
Disrupted fibroblast growth factor receptor (FGFR)1 signalling has been shown to cause Kallmann syndrome...
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