Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
出版年份 2011 全文链接
标题
Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
作者
关键词
-
出版物
Orphanet Journal of Rare Diseases
Volume 6, Issue 1, Pages 41
出版商
Springer Nature
发表日期
2011-06-18
DOI
10.1186/1750-1172-6-41
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
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- 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
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- Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions
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- Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
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- CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
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- Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype
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- (2009) Julie Sarfati et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
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- Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
- (2008) Hyung-Goo Kim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Kallmann syndrome
- (2008) Catherine Dodé et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome
- (2008) Ana Paula Abreu et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
- (2008) John Falardeau et al. JOURNAL OF CLINICAL INVESTIGATION
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