Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
出版年份 2018 全文链接
标题
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2018-06-12
DOI
10.1038/s41431-018-0202-7
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。- New NR5A1 mutations and phenotypic variations of gonadal dysgenesis
- (2017) Ralf Werner et al. PLoS One
- NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
- (2016) Dorien Baetens et al. GENETICS IN MEDICINE
- A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
- (2016) Anu Bashamboo et al. HUMAN MOLECULAR GENETICS
- dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
- (2016) Xiaoming Liu et al. HUMAN MUTATION
- 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
- (2016) Joaquín Dopazo et al. MOLECULAR BIOLOGY AND EVOLUTION
- Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis
- (2016) Inas Mazen et al. Sexual Development
- Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development
- (2015) Ruth M. Baxter et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
- (2015) Ulrich Boehm et al. Nature Reviews Endocrinology
- LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study
- (2015) Núria Camats et al. Sexual Development
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Epigenetic Regulation of Sox30 Is Associated with Testis Development in Mice
- (2014) Fei Han et al. PLoS One
- Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis
- (2014) Jana Malikova et al. PLoS One
- Integrative analysis of SF-1 transcription factor dosage impact on genome-wide binding and gene expression regulation
- (2013) Mabrouka Doghman et al. NUCLEIC ACIDS RESEARCH
- Ten Novel Mutations in theNR5A1Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals
- (2012) N. Camats et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland
- (2010) Bruno Ferraz-de-Souza et al. FASEB JOURNAL
- LRH-1 and Nanog regulate Dax1 transcription in mouse embryonic stem cells
- (2010) Victoria R. Kelly et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Steroidogenic factor-1 (SF-1, NR5A1) and human disease
- (2010) Bruno Ferraz-de-Souza et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Minireview: Steroidogenic Factor 1: Its Roles in Differentiation, Development, and Disease
- (2010) Bernard P. Schimmer et al. MOLECULAR ENDOCRINOLOGY
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Dax-1 and Steroid Receptor RNA Activator (SRA) Function as Transcriptional Coactivators for Steroidogenic Factor 1 in Steroidogenesis
- (2009) B. Xu et al. MOLECULAR AND CELLULAR BIOLOGY
- Molecular aspects of steroidogenic factor 1 (SF-1)
- (2009) Erling A. Hoivik et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Mutations inNR5A1Associated with Ovarian Insufficiency
- (2009) Diana Lourenço et al. NEW ENGLAND JOURNAL OF MEDICINE
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