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。The Role of Copy Number Variants in Disorders of Sex Development
Brittany Croft et al.
SEXUAL DEVELOPMENT (2018)
Duplication of SOX9 associated with 46, XX ovotesticular disorder of sex development
Berenice Lopez-Hernandez et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2018)
Sex reversal following deletion of a single distal enhancer of Sox9
Nitzan Gonen et al.
SCIENCE (2018)
Enhancer redundancy provides phenotypic robustness in mammalian development
Marco Osterwalder et al.
NATURE (2018)
SOX9: A genomic view of tissue specific expression and action
Aleisha Symon et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2017)
Normal Levels of Sox9 Expression in the Developing Mouse Testis Depend on the TES/TESCO Enhancer, but This Does Not Act Alone
Nitzan Gonen et al.
PLOS GENETICS (2017)
A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb
T. Ohnesorg et al.
CLINICAL GENETICS (2017)
Genome-wide identification of regulatory elements in Sertoli cells
Danielle M. Maatouk et al.
DEVELOPMENT (2017)
Shadow Enhancers Are Pervasive Features of Developmental Regulatory Networks
Enrico Cannavo et al.
CURRENT BIOLOGY (2016)
Using ROADMAP Data to Identify Enhancers Associated with Disorders of Sex Development
Thomas Ohnesorg et al.
SEXUAL DEVELOPMENT (2016)
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Stefanie Eggers et al.
GENOME BIOLOGY (2016)
Refining the Regulatory Region Upstream of SOX9 Associated with 46, XX Testicular Disorders of Sex Development (DSD)
Capucine Hyon et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development
Gwang-Jin Kim et al.
JOURNAL OF MEDICAL GENETICS (2015)
Integrative analysis of 111 reference human epigenomes
Anshul Kundaje et al.
NATURE (2015)
The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers
Baojin Yao et al.
NUCLEIC ACIDS RESEARCH (2015)
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
Annalisa Vetro et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
GT-Scan: identifying unique genomic targets
Aidan O'Brien et al.
BIOINFORMATICS (2014)
A piggyBac Transposon- and Gateway-enhanced System for Efficient BAC Transgenesis
Liang Zhao et al.
DEVELOPMENTAL DYNAMICS (2014)
JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles
Anthony Mathelier et al.
NUCLEIC ACIDS RESEARCH (2014)
A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9
Bing Xiao et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
Multiplex Genome Engineering Using CRISPR/Cas Systems
Le Cong et al.
SCIENCE (2013)
Novel PCR Assay for Determining the Genetic Sex of Mice
L. McFarlane et al.
SEXUAL DEVELOPMENT (2013)
Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction
Jian Ye et al.
BMC BIOINFORMATICS (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
XX males SRY negative: a confirmed cause of infertility
Annalisa Vetro et al.
JOURNAL OF MEDICAL GENETICS (2011)
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
Sabina Benko et al.
JOURNAL OF MEDICAL GENETICS (2011)
Mapping and analysis of chromatin state dynamics in nine human cell types
Jason Ernst et al.
NATURE (2011)
A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder.
James J. Cox et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
FGF9 Suppresses Meiosis and Promotes Male Germ Cell Fate in Mice
Josephine Bowles et al.
DEVELOPMENTAL CELL (2010)
Histone H3K27ac separates active from poised enhancers and predicts developmental state
Menno P. Creyghton et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Mutations of the SRY-Responsive Enhancer of SOX9 Are Uncommon in XY Gonadal Dysgenesis
I. Georg et al.
SEXUAL DEVELOPMENT (2010)
Global Gene Expression in the Human Fetal Testis and Ovary
Brenda Houmard et al.
BIOLOGY OF REPRODUCTION (2009)
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
Ryohei Sekido et al.
NATURE (2008)
The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance
D Schmidt et al.
DEVELOPMENT (2004)
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
M Uda et al.
HUMAN MOLECULAR GENETICS (2004)
The human genome browser at UCSC
WJ Kent et al.
GENOME RESEARCH (2002)
Sox9 induces testis development in XX transgenic mice
VPI Vidal et al.
NATURE GENETICS (2001)
A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse
CE Bishop et al.
NATURE GENETICS (2000)
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development
NA Hanley et al.
MECHANISMS OF DEVELOPMENT (2000)