Disorders of Sex Determination

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[2]  A. Lerário,et al.  A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 (WT1) pathogenic variant , 2018, Clinical genetics.

[3]  J. Conde,et al.  Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD) , 2018, Anales de Pediatría.

[4]  B. Mendonca,et al.  Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development , 2018, Molecular genetics & genomic medicine.

[5]  A. Sinclair,et al.  GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes , 2018, Front. Endocrinol..

[6]  G. Lin,et al.  Novel FOXL2 mutations cause blepharophimosis‐ptosis‐epicanthus inversus syndrome with premature ovarian insufficiency , 2018, Molecular genetics & genomic medicine.

[7]  P. Validire,et al.  Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies , 2018, Human molecular genetics.

[8]  M. Tachibana,et al.  Epigenetic regulation of mammalian sex determination , 2017, Molecular and Cellular Endocrinology.

[9]  A. Sinclair,et al.  Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development , 2017, Human mutation.

[10]  M. Ferguson-Smith,et al.  A collection of XY female cell lines , 2018, Human Cell.

[11]  H. Charoute,et al.  A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD , 2017, Sexual Development.

[12]  A. Larsen,et al.  Temporal expression pattern of genes during the period of sex differentiation in human embryonic gonads , 2017, Scientific Reports.

[13]  R. Veitia,et al.  A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations , 2017, Clinical endocrinology.

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[15]  H. Ostrer,et al.  MAP3K1‐related gonadal dysgenesis: Six new cases and review of the literature , 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

[16]  J. Lupski,et al.  22q11.2q13 duplication including SOX10 causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease , 2017, American journal of medical genetics. Part A.

[17]  Wan-Xi Yang,et al.  Sry and SoxE genes: How they participate in mammalian sex determination and gonadal development? , 2017, Seminars in cell & developmental biology.

[18]  K. McElreavey,et al.  Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development , 2017, Clinical genetics.

[19]  R. Veitia,et al.  The genetic make‐up of ovarian development and function: the focus on the transcription factor FOXL2 , 2017, Clinical genetics.

[20]  A. Majzoub,et al.  46 XX karyotype during male fertility evaluation; case series and literature review , 2016, Asian journal of andrology.

[21]  Wufang Fan,et al.  A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis , 2016, PloS one.

[22]  Zi-jiang Chen,et al.  Novel mutations in the TP63 gene are potentially associated with Müllerian duct anomalies. , 2016, Human reproduction.

[23]  A. Agarwal,et al.  Genetic and epigenetic effects in sex determination. , 2016, Birth defects research. Part C, Embryo today : reviews.

[24]  A. Biason-Lauber,et al.  Why boys will be boys and girls will be girls: Human sex development and its defects. , 2016, Birth defects research. Part C, Embryo today : reviews.

[25]  K. McElreavey,et al.  Familial forms of disorders of sex development may be common if infertility is considered a comorbidity , 2016, BMC Pediatrics.

[26]  S. Khaliq,et al.  Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients , 2016, Andrologia.

[27]  A. Pastuszak,et al.  Testosterone therapy in the new era of Food and Drug Administration oversight , 2016, Translational andrology and urology.

[28]  Eric Vilain,et al.  Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care , 2016, Hormone Research in Paediatrics.

[29]  S. Ahmed,et al.  UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development ( Revised 2015 ) , 2015 .

[30]  J. Graves.  In retrospect: Twenty-five years of the sex-determining gene , 2015, Nature.

[31]  D. Conrad,et al.  Rare double sex and mab‐3‐related transcription factor 1 regulatory variants in severe spermatogenic failure , 2015, Andrology.

[32]  Z. Cai,et al.  A Novel Mutation of DAX-1 Associated with Secretory Azoospermia , 2015, PloS one.

[33]  A. Duncan,et al.  DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease , 2015, Best practice & research. Clinical endocrinology & metabolism.

[34]  S. Takada,et al.  Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9 , 2015, Molecular genetics & genomic medicine.

[35]  H. Merz,et al.  46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing. , 2015, The Journal of clinical endocrinology and metabolism.

[36]  H. Arnold,et al.  Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development , 2015, Journal of Medical Genetics.

[37]  L. Opitz,et al.  Genome-wide identification of CBX2 targets: insights in the human sex development network. , 2015, Molecular endocrinology.

[38]  M. Tachibana.  Epigenetic regulation of mammalian sex determination. , 2015, The journal of medical investigation : JMI.

[39]  Y. Cui,et al.  46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature , 2014, BMC Urology.

[40]  P. Jonveaux,et al.  Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2 , 2014, American journal of medical genetics. Part A.

[41]  Yun-Fai Chris Lau,et al.  The sex-determining factors SRY and SOX9 regulate similar target genes and promote testis cord formation during testicular differentiation. , 2014, Cell reports.

[42]  Yiping Shen,et al.  Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene , 2014, Molecular and Cellular Endocrinology.

[43]  K. McElreavey,et al.  Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. , 2014, Human molecular genetics.

[44]  G. Shaw,et al.  Wolffian Duct Development , 2014, Sexual Development.

[45]  J. Ko,et al.  A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication , 2014, Annals of pediatric endocrinology & metabolism.

[46]  M. Wosnitzer.  Genetic evaluation of male infertility , 2014, Translational andrology and urology.

[47]  A. Sinclair,et al.  The Genetics of Disorders of Sex Development in Humans , 2014, Sexual Development.

[48]  G. Guerra‐Júnior,et al.  The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency , 2014, BMC Medical Genetics.

[49]  X. Ji,et al.  A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9. , 2013, European journal of medical genetics.

[50]  O. Hiort.  The differential role of androgens in early human sex development , 2013, BMC Medicine.

[51]  Liping Yang,et al.  Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports , 2013, Journal of Assisted Reproduction and Genetics.

[52]  Jiann‐Loung Hwang,et al.  Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin. , 2013, Journal of the Formosan Medical Association = Taiwan yi zhi.

[53]  Makoto Ono,et al.  Disorders of sex development: new genes, new concepts , 2013, Nature Reviews Endocrinology.

[54]  Ahmet Gudeloglu,et al.  Update in the evaluation of the azoospermic male , 2013, Clinics.

[55]  Anju P Sukumaran,et al.  Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal , 2013, Journal of pediatric endocrinology & metabolism : JPEM.

[56]  G. Guerra‐Júnior,et al.  Frasier syndrome: four new cases with unusual presentations. , 2012, Arquivos brasileiros de endocrinologia e metabologia.

[57]  A. Biason-Lauber.  WNT4, RSPO1, and FOXL2 in Sex Development , 2012, Seminars in Reproductive Medicine.

[58]  D. Chitayat,et al.  XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication , 2012, American journal of medical genetics. Part A.

[59]  I. Abdel-Hamid,et al.  Further evidence of the clinical, hormonal, and genetic heterogeneity of Klinefelter syndrome: a study of 216 infertile Egyptian patients. , 2012, Journal of andrology.

[60]  C. Gravholt,et al.  Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation. , 2011, International journal of andrology.

[61]  P. Philibert,et al.  Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome). , 2011, Fertility and sterility.

[62]  C. Woods,et al.  A SOX9 duplication and familial 46,XX developmental testicular disorder. , 2011, New England Journal of Medicine.

[63]  G. Guerra‐Júnior,et al.  Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis. , 2010, Arquivos brasileiros de endocrinologia e metabologia.

[64]  R. Sekido.  SRY: A transcriptional activator of mammalian testis determination. , 2010, The international journal of biochemistry & cell biology.

[65]  G. Scherer,et al.  SOX E genes: SOX9 and SOX8 in mammalian testis development. , 2010, The international journal of biochemistry & cell biology.

[66]  E. Schoenle,et al.  Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. , 2009, American journal of human genetics.

[67]  K. McElreavey,et al.  Mutations in NR5A1 associated with ovarian insufficiency. , 2009, The New England journal of medicine.

[68]  V. Chow,et al.  Genetic characterization of two 46,XX males without gonadal ambiguities , 2008, Journal of Assisted Reproduction and Genetics.

[69]  R. Lovell-Badge,et al.  Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer , 2008, Nature.

[70]  M. Mazzilli,et al.  Syndromic true hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation , 2008, Human mutation.

[71]  R. Lovell-Badge,et al.  Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer , 2008, Nature.

[72]  H. Yao,et al.  The road to maleness: from testis to Wolffian duct , 2006, Trends in Endocrinology & Metabolism.

[73]  P. A. Lee,et al.  Consensus statement on management of intersex disorders , 2006, Archives of Disease in Childhood.

[74]  S. Ahmed,et al.  Consensus Statement on Management of Intersex Disorders , 2006, Pediatrics.

[75]  L. Singh,et al.  SRY-negative 46,XX male with normal genitals, complete masculinization and infertility. , 2006, Molecular human reproduction.

[76]  K. McElreavey,et al.  Clinical, Hormonal and Cytogenetic Evaluation of 46,XX Males and Review of the Literature , 2005, Journal of pediatric endocrinology & metabolism : JPEM.

[77]  G. Berkovitz,et al.  46,XX sex reversal with partial duplication of chromosome arm 22q , 2004, American journal of medical genetics. Part A.

[78]  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.

[79]  M. Toublanc,et al.  Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA‐sequences , 1994, Clinical endocrinology.

[80]  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.

[81]  A. Delachapelle,et al.  Analytic review: nature and origin of males with XX sex chromosomes. , 1972, American journal of human genetics.