Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
暂无分享,去创建一个
A. Sinclair | H. Bengtsson | S. White | E. Vilain | P. Koopman | L. Gordon | J. Hutson | P. Western | C. Smith | V. Harley | S. Gustin | J. van den Bergen | D. Miles | V. Arboleda | E. Turbitt | J. Hewitt | G. Warne | T. Ohnesorg | V. Schumacher | Valerie A. Arboleda | K. Bell | H. Daggag | A. Notini | K. Roeszler | Terry Speed | T. Speed
[1] K. McElreavey,et al. Loss-of-function mutation in GATA4 causes anomalies of human testicular development , 2011, Proceedings of the National Academy of Sciences.
[2] James N. Hughes,et al. Identification of SOX3 as an XX male sex reversal gene in mice and humans. , 2011, Journal of Clinical Investigation.
[3] H. Ostrer,et al. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. , 2010, American journal of human genetics.
[4] S. Kang,et al. Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development , 2010, PloS one.
[5] P. Wieacker,et al. Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. , 2010, Human reproduction.
[6] P. Wieacker,et al. Mutations of the SRY-Responsive Enhancer of SOX9 Are Uncommon in XY Gonadal Dysgenesis , 2010, Sexual Development.
[7] A. Sinclair,et al. Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach , 2009, BMC Genomics.
[8] Terence P. Speed,et al. A single-array preprocessing method for estimating full-resolution raw copy numbers from all Affymetrix genotyping arrays including GenomeWideSNP 5 & 6 , 2009, Bioinform..
[9] J. Hewitt,et al. Disorders of sex development: current understanding and continuing controversy , 2009, The Medical journal of Australia.
[10] C. Le Caignec,et al. Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9 , 2009, American journal of medical genetics. Part A.
[11] A. Munnich,et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence , 2009, Nature Genetics.
[12] Nathaniel D. Heintzman,et al. Histone modifications at human enhancers reflect global cell-type-specific gene expression , 2009, Nature.
[13] A. Sharp. Emerging themes and new challenges in defining the role of structural variation in human disease , 2009, Human mutation.
[14] L. Looijenga,et al. Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome , 2008, Molecular reproduction and development.
[15] K. Massé,et al. A functional screen for genes involved in Xenopus pronephros development , 2008, Mechanisms of Development.
[16] R. Lovell-Badge,et al. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer , 2008, Nature.
[17] H. Taniguchi,et al. A GATA4/WT1 cooperation regulates transcription of genes required for mammalian sex determination and differentiation , 2008, BMC Molecular Biology.
[18] M. Oscarson,et al. Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in‐house‐designed synthetic probe set for multiplex ligation‐dependent probe amplification analysis , 2008, Clinical genetics.
[19] M. McCarthy,et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes , 2008, Nature Genetics.
[20] Terence P. Speed,et al. Estimation and assessment of raw copy numbers at the single locus level , 2008, Bioinform..
[21] A. Sinclair,et al. Dynamic Regulation of Mitotic Arrest in Fetal Male Germ Cells , 2008, Stem cells.
[22] K. H. Albrecht,et al. Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice , 2007, Proceedings of the National Academy of Sciences.
[23] J. Staaf,et al. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. , 2007, The Journal of clinical endocrinology and metabolism.
[24] P. Stankiewicz,et al. Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father , 2007, American journal of medical genetics. Part A.
[25] R. Hennekam,et al. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. , 2006, American journal of human genetics.
[26] D. Wilhelm,et al. The makings of maleness: towards an integrated view of male sexual development , 2006, Nature Reviews Genetics.
[27] S. Ahmed,et al. Consensus Statement on Management of Intersex Disorders , 2006, Pediatrics.
[28] U. Dohrmann,et al. Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern. , 2006, Developmental biology.
[29] Peter Koopman,et al. Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes. , 2006, Human molecular genetics.
[30] M. Daly,et al. Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). , 2005, Genome research.
[31] M. Dubois‐Dauphin,et al. Gene expression during sex determination reveals a robust female genetic program at the onset of ovarian development. , 2005, Developmental biology.
[32] K. H. Albrecht,et al. Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells , 2005, Development.
[33] Katherine L Hill-Harfe,et al. Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. , 2005, American journal of human genetics.
[34] P. Stankiewicz,et al. Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia , 2005 .
[35] P. Canto,et al. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. , 2004, The Journal of clinical endocrinology and metabolism.
[36] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.
[37] Han G Brunner,et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome , 2004, Nature Genetics.
[38] J. Schouten,et al. Two‐color multiplex ligation‐dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses , 2004, Human mutation.
[39] Colin E Bishop,et al. Long-range activation of Sox9 in Odd Sex (Ods) mice. , 2004, Human molecular genetics.
[40] V. Harley,et al. Sex determination: a ‘window’ of DAX1 activity , 2004, Trends in Endocrinology & Metabolism.
[41] K. Lindenberg,et al. Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal , 2004, Journal of Medical Genetics.
[42] J. Jameson,et al. Dax1 is required for testis determination , 2003, Nature Genetics.
[43] D. Zwijnenburg,et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.
[44] C. Ferraz,et al. Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions. , 2001, Genomics.
[45] V. Vidal,et al. Sox9 induces testis development in XX transgenic mice , 2001, Nature Genetics.
[46] X. Chen,et al. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. , 2001, American journal of human genetics.
[47] Paul A. Overbeek,et al. A transgenic insertion upstream of Sox9 is associated with dominant XX sex reversal in the mouse , 2000, Nature Genetics.
[48] Y. Ning,et al. Autosomal XX sex reversal caused by duplication of SOX9. , 1999, American journal of medical genetics.
[49] B. Birren,et al. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. , 1999, American journal of human genetics.
[50] P. Koopman,et al. Structural and functional characterization of the mouse Sox9 promoter: implications for campomelic dysplasia. , 1999, Human molecular genetics.
[51] P N Goodfellow,et al. Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[52] R. Lovell-Badge,et al. Dax1 antagonizes Sry action in mammalian sex determination , 1998, Nature.
[53] R. Lovell-Badge,et al. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function , 1996, Nature Genetics.
[54] J. W. Foster,et al. Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. , 1995, American journal of human genetics.
[55] N. Tommerup,et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 , 1994, Cell.
[56] Sahar Mansour,et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene , 1994, Nature.
[57] K. Parker,et al. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation , 1994, Cell.
[58] Robin Lovell-Badge,et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif , 1990, Nature.
[59] D. Wilhelm,et al. Sex determination and gonadal development in mammals. , 2007, Physiological reviews.
[60] S Faisal Ahmed,et al. CONSENSUS STATEMENT ON MANAGEMENT OF INTERSEX DISORDERS. INTERNATIONAL CONSENSUS CONFERENCE ON INTERSEX ORGANIZED BY THE LAWSON WILKINS PEDIATRIC ENDOCRINE SOCIETY AND THE EUROPEAN SOCIETY FOR PAEDIATRIC ENDOCRINOLOGY , 2006 .
[61] P. Stankiewicz,et al. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. , 2005, American journal of human genetics.
[62] J. D. den Dunnen,et al. Detecting copy number changes in genomic DNA: MAPH and MLPA. , 2004, Methods in cell biology.
[63] E. Vilain,et al. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients. , 2004, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.
[64] A. Sinclair,et al. Mutations in SRY and SOX9: Testis‐determining genes , 1997, Human mutation.
[65] Andy Greenfield,et al. The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos , 1995, Nature Genetics.