Eric Vilain
Researcher
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Biology Philosophy
Why Is Eric Vilain Influential?
(Suggest an Edit or Addition)According to Wikipedia, Eric Vilain is a physician-scientist and professor in the fields of Disorders/Differences of Sex Development and precision medicine. He has been the director of the Center for Genetic Medicine Research at Children's National Medical Center and the chair of the Department of Genomics and Precision Medicine at the George Washington University School of Medicine & Health Sciences in Washington, D.C. since 2017. Vilain is a fellow of the American College of Medical Genetics, serves on the International Olympic Committee's Medical Commission, and sits on the Board of Scientific Counselors for the National Institute of Child Health and Human Development .
Eric Vilain's Published Works
Published Works
- Clinical exome sequencing for genetic identification of rare Mendelian disorders. (2014) (848)
- Epigenetic Predictor of Age (2011) (739)
- Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care (2016) (525)
- Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation (2008) (427)
- Sexual Orientation, Controversy, and Science (2016) (380)
- The genetics of sex differences in brain and behavior (2011) (358)
- A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. (1993) (356)
- Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. (2001) (333)
- Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. (2003) (329)
- Direct Regulation of Adult Brain Function by the Male-Specific Factor SRY (2006) (325)
- Identification of SOX3 as an XX male sex reversal gene in mice and humans. (2011) (231)
- Mutant cohesin in premature ovarian failure. (2014) (229)
- Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. (2014) (216)
- Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/β-catenin synergy (2003) (192)
- Androgen Receptor Repeat Length Polymorphism Associated with Male-to-Female Transsexualism (2009) (183)
- XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region. (1992) (178)
- Exome sequencing for the diagnosis of 46,XY disorders of sex development. (2015) (162)
- Collective Self-Esteem as a Coping Resource for Male-to-Female Transsexuals. (2009) (162)
- Regional gray matter variation in male-to-female transsexualism (2009) (162)
- Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. (2003) (161)
- Reported Effects of Masculine Ideals on Gay Men. (2009) (155)
- Mutations in the PCNA-binding domain of CDKN1C cause IMAGE Syndrome (2012) (155)
- “Straight-Acting Gays”: The Relationship Between Masculine Consciousness, Anti-Effeminacy, and Negative Gay Identity (2012) (147)
- Assessing the necessity of confirmatory testing for exome sequencing results in a clinical molecular diagnostic laboratory (2014) (130)
- Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis (2011) (125)
- Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA‐sequences (1994) (115)
- IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. (1999) (113)
- Masculine Gender Role Conflict and Negative Feelings about Being Gay. (2010) (111)
- Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. (2006) (106)
- De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. (2015) (102)
- Acceleration of Age-Associated Methylation Patterns in HIV-1-Infected Adults (2015) (101)
- The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging (2014) (99)
- Mammalian sex determination: from gonads to brain. (1998) (99)
- DAX1 mutations map to putative structural domains in a deduced three-dimensional model. (1998) (98)
- The importance of having two X chromosomes (2016) (92)
- DSDs: genetics, underlying pathologies and psychosexual differentiation (2014) (89)
- Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia (2009) (89)
- A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development (2016) (88)
- Sequence variant in the laminin γ1 (LAMC1) gene associated with familial pelvic organ prolapse (2007) (85)
- The human testis‐determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism (2012) (85)
- DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies (2015) (82)
- Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. (1992) (81)
- The endless quest for sex determination genes (2004) (80)
- Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis (2017) (76)
- Wnt4 inhibits β‐catenin/TCF signalling by redirecting β‐catenin to the cell membrane (2008) (75)
- Familial tranmission of genitovaginal prolapse (2006) (73)
- Sex differences in brain and behavior: hormones versus genes. (2007) (72)
- A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. (2016) (71)
- Human SRY inhibits beta-catenin-mediated transcription. (2008) (70)
- Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. (2002) (70)
- XY sex reversal associated with a nonsense mutation in SRY. (1992) (67)
- Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. (1996) (66)
- Increased Cortical Thickness in Male-to-Female Transsexualism. (2012) (64)
- Extreme skewing of X chromosome inactivation in mothers of homosexual men (2006) (62)
- Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. (2007) (61)
- Familial transmission of genitovaginal prolapse. (2006) (60)
- Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane. (2008) (58)
- Translational genetics for diagnosis of human disorders of sex development. (2013) (58)
- A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY (1992) (57)
- DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line. (1997) (56)
- Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients. (2004) (55)
- Parental Reports of Stigma Associated with Child's Disorder of Sex Development (2015) (53)
- The Genetics of Disorders of Sex Development in Humans (2014) (53)
- The biological basis of human sexual orientation: is there a role for epigenetics? (2014) (52)
- De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing (2014) (52)
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder (2018) (51)
- Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor. (1993) (50)
- Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. (2002) (49)
- Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. (1993) (49)
- Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson’s disease (2019) (49)
- Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. (2009) (47)
- Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice. (2006) (46)
- Genetics of Disorders of Sex Development: The DSD-TRN Experience. (2017) (45)
- SRY-negative XX fetus with complete male phenotype (1994) (45)
- A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network (2017) (44)
- A practical approach to ambiguous genitalia in the newborn period. (2010) (43)
- AluY insertion (IVS4‐52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency (2000) (41)
- Genetic Link Between Gender Dysphoria and Sex Hormone Signaling (2018) (41)
- De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders (2014) (40)
- Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients (2020) (39)
- Nonsyndromic 46,XX Testicular Disorders of Sex Development (2015) (39)
- Genetics of Sexual Development (2000) (38)
- Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics (2018) (38)
- Masculine consciousness and anti-effeminacy among latino and white gay men. (2016) (36)
- SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals (2019) (35)
- We used to call them hermaphrodites (2007) (35)
- Long-read single-molecule maps of the functional methylome (2019) (34)
- Prolactin Expression in the Sheep Brain (2008) (34)
- Multisystem Inflammatory Syndrome of Children: Sub-phenotypes, Risk Factors, Biomarkers, Cytokine Profiles and Viral Sequencing. (2021) (34)
- Lack of vasoactive intestinal peptide reduces testosterone levels and reproductive aging in mouse testis. (2007) (33)
- The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance (2013) (33)
- Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells (2016) (33)
- Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development (2013) (32)
- MAP3K1‐related gonadal dysgenesis: Six new cases and review of the literature (2017) (32)
- Characterization and sequence of the 5' flanking region of the human testis-determining factor SRY (1992) (31)
- ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients (2016) (31)
- Disorders of sex development (DSD): Clinical service delivery in the United States (2017) (30)
- The Subjective Experience of Social Class and Upward Mobility Among African American Men in Graduate School. (2011) (30)
- New technologies to uncover the molecular basis of disorders of sex development (2018) (29)
- Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway. (2001) (29)
- Mechanisms of Disease: transcription factors in sex determination—relevance to human disorders of sex development (2006) (28)
- New Genomic Technologies: An Aid for Diagnosis of Disorders of Sex Development (2015) (27)
- A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. (2006) (27)
- Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males (2018) (26)
- Identification of SOX 3 as an XX male sex reversal gene in mice and humans (2010) (25)
- Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. (2019) (25)
- Towards improved genetic diagnosis of human differences of sex development (2021) (25)
- Gender Role Conflict, Interest in Casual Sex, and Relationship Satisfaction Among Gay Men. (2009) (24)
- Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction (2020) (24)
- Genes and brain sex differences. (2010) (23)
- Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata. (1995) (23)
- Elements of morphology: Standard terminology for the external genitalia (2013) (23)
- Control of sex determination in animals. (1993) (23)
- Sex steroid hormone modulation of neural stem cells: a critical review (2019) (22)
- The genetics of ovotesticular disorders of sex development. (2011) (22)
- The Neuroanatomy of Transgender Identity: Mega-Analytic Findings From the ENIGMA Transgender Persons Working Group. (2021) (22)
- Translating genomics to the clinical diagnosis of disorders/differences of sex development. (2019) (21)
- Anomalies of human sexual development: clinical aspects and genetic analysis. (2002) (21)
- In Addition to Stigma: Cognitive and Autism-Related Predictors of Mental Health in Transgender Adolescents (2021) (20)
- Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase (2015) (20)
- Disorders of gonadal development. (2002) (20)
- WNT4 mediates the autocrine effects of growth hormone in mammary carcinoma cells. (2016) (19)
- Characteristics of undiagnosed diseases network applicants: implications for referring providers (2018) (19)
- Genetics of Intersexuality (2006) (19)
- Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum. (2019) (19)
- Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development (2017) (19)
- Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome (2014) (18)
- The New Policy on Hyperandrogenism in Elite Female Athletes is Not About “Sex Testing” (2013) (17)
- Consensus Parameter: Research Methodologies to Evaluate Neurodevelopmental Effects of Pubertal Suppression in Transgender Youth (2020) (17)
- Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States (2020) (17)
- Hurdling Over Sex? Sport, Science, and Equity (2014) (16)
- Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors (2018) (16)
- A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development (2016) (16)
- Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? (2017) (16)
- Membrane β‐catenin and adherens junctions in early gonadal patterning (2012) (16)
- IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. (2006) (16)
- Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature. (1994) (16)
- Development of a decision support tool in pediatric Differences/Disorders of Sex Development. (2019) (15)
- The relationship between help-seeking attitudes and masculine norms among monozygotic male twins discordant for sexual orientation. (2013) (15)
- Advances in diagnosis and care of persons with DSD over the last decade (2014) (15)
- Sry and the genetics of sex determination. (2002) (15)
- Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool (2019) (15)
- X-Linked Adrenal Hypoplasia Congenita (2013) (14)
- Regulation of Sex Determination in Mice by a Non-coding Genomic Region (2014) (14)
- Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-YPOS mouse model (2018) (13)
- Transgender Identities: Research and Controversies (2012) (13)
- Women with hyperandrogenism in elite sports: scientific and ethical rationales for regulating. (2015) (13)
- The Chromosome 11 Region From Strain 129 Provides Protection From Sex Reversal in XYPOS Mice (2008) (12)
- [Brief antiseptic application of iodine in neonatal intensive care units: effects on thyroid function]. (1994) (12)
- The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability. (1992) (11)
- The regulations about eligibility for women with hyperandrogenism to compete in women′s category are well founded. A rebuttal to the conclusions by Healy et al. (2015) (11)
- Disruption of POF 1 B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure (2006) (11)
- Emerging issues in disorders/differences of sex development (DSD) (2017) (10)
- Effects of COVID-19 Home Confinement on Behavior, Perception of Threat, Stress and Training Patterns of Olympic and Paralympic Athletes (2021) (10)
- NR0B1- Related Adrenal Hypoplasia Congenita (1993) (10)
- Reproductive endocrinology: Athletes' bodies, sexed bodies—intersexuality in athletics (2012) (9)
- On the Validity of Popular Masculinity Rating Scales with Gay Men (2014) (9)
- Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal (2004) (9)
- Newborn screening for inborn errors of metabolism is going to expand: are we ready? (1999) (8)
- Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey (2021) (8)
- Midkine is expressed early in rat fetal adrenal development. (2000) (8)
- The Biology of Sexual Orientation and Gender Identity (2009) (8)
- Disorders of Sex Development (2019) (8)
- Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation (2005) (8)
- The evolution of the search for novel genes in mammalian sex determination: from mice to men. (2011) (7)
- Transwomen and the Metabolic Syndrome: Is Orchiectomy Protective? (2016) (7)
- CYPs, SNPs, and molecular diagnosis in the postgenomic era. (1998) (7)
- Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. (2016) (6)
- CHAPTER 16 – Disorders of Sex Development (2009) (6)
- Transgender Youth Executive Functioning: Relationships with Anxiety Symptoms, Autism Spectrum Disorder, and Gender-Affirming Medical Treatment Status (2021) (6)
- Genetic Basis of Gonadal and Genital Development (2010) (6)
- [STAG3 in premature ovarian failure]. (2015) (6)
- Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion (1995) (6)
- Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene. (2002) (5)
- Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics. (2019) (5)
- Long Reads Capture Simultaneous Enhancer-Promoter Methylation Status for Cell-type Deconvolution (2021) (5)
- Defects in energy metabolism: coming of age, slowly. (2000) (4)
- The gut microbiome in konzo (2021) (4)
- Motor Control And Cognition Deficits Associated With Protein Carbamoylation In Food (Cassava) Cyanogenic Poisoning: Neurodegeneration And Genomic Perspectives. (2020) (4)
- DAX1 and Related Orphan Receptors (2001) (4)
- Novel SARS-CoV-2 spike variant identified through viral genome sequencing of the pediatric Washington D.C. COVID-19 outbreak (2021) (4)
- nanotatoR: a tool for enhanced annotation of genomic structural variants (2020) (4)
- Addendum to “Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency” [Mol. Genet. Metab. 77 (2002) 195–201] (2003) (4)
- Chapter 7 – The Genetics of Ovotesticular Disorders of Sex Development (2014) (3)
- Genetics of Sexual Development and Differentiation (2012) (3)
- Emergence of SARS-CoV-2 variants of concern in the pediatric population of the United States (2021) (3)
- Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts (2019) (3)
- An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study (2016) (3)
- The unfinished race: 30 years of gender verification in sport (2016) (3)
- [The analysis of SRY doesn't explain all the pathology of sex determination]. (1991) (3)
- [A neuropeptide at the origin of testicular aging?]. (2006) (3)
- Chapter 17 – Disorders of Sex Development (2014) (3)
- The Role of Sex Research Organizations in Eliminating Sexual Harassment (2020) (2)
- Chapter 118 – Genetic Basis of Gonadal and Genital Development∗ (2016) (2)
- Science's place in shaping gender-based policies in athletics (2019) (2)
- Dead Chromosome Walking (2004) (2)
- Facial analysis technology for the detection of down syndrome in the Democratic Republic of the Congo. (2021) (2)
- nanotatoR: a tool for enhanced annotation of genomic structural variants (2021) (1)
- The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance (2013) (1)
- Hurdling Over Sex? Sport, Science, and Equity (2014) (1)
- [Isolation of the sex-determining gene in men]. (1992) (1)
- Microdeletion of ZBTB20 Results in a Phenotype Overlapping With That of the Microdeletion 3q13.31 Syndrome (2016) (1)
- Transgender athletes in elite sport competitions (2017) (1)
- Disorders of Sex Development: Of Mice and Men.Eric Vilain, M.D., Ph.D. (2009) (1)
- [Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis]. (1994) (1)
- Synthesis of Pyridinobenzotetraazapentalenes. (1987) (1)
- Decision making in differences of sex development/intersex care in the USA: bridging advocacy and family-centred care. (2022) (1)
- Effects of COVID-19 Pandemic on Behavior, Perception of Threat, Stress and Training Patterns of Olympic and Paralympic Athletes (2021) (1)
- Long reads capture simultaneous enhancer–promoter methylation status for cell-type deconvolution (2021) (1)
- Interpreting whole-genome sequencing. (2014) (1)
- A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases (2021) (1)
- DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum (2018) (1)
- Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings (2020) (1)
- Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-YPOS mouse model (2018) (1)
- "Sexual orientation, controversy, and science": Corrigendum. (2016) (1)
- Psychological Effects of Sex Differentiation (2014) (0)
- P148: Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing* (2023) (0)
- SYNTHESIS AND REACTIVITY OF PYRIDO(3,2-B)BENZO(4,5)(1,3A,6,6A)-TETRAAZAPENTALENE (1983) (0)
- Response to Letter to the Editor: "Genetic Link Between Gender Dysphoria and Sex Hormone Signalling". (2019) (0)
- COVID-19 and the International Academy of Sex Research: We Will Be Back (2020) (0)
- 1280: Increased Susceptibility to Genitovaginal Prolapse Associated with a Polymorphism in the Promoter of the Extracellular Matrix Protein LAMC1 (2007) (0)
- Transgender Athletes in Elite Sport Competitions: Equity and Inclusivity (2017) (0)
- Exome Sequencing Improves Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia (S32.003) (2015) (0)
- DEAH-Box Helicase 37defects (DXH37) Deffects are a Novel Cause of 46,XY Gonadal Dysgenesis (2018) (0)
- DNA methylation patterns associated with konzo in Sub-Saharan Africa (2022) (0)
- Sex steroid hormone modulation of neural stem cells: a critical review (2019) (0)
- SAT-LB050 Congenital Adrenal Hyperplasia Newborn Screening Protocols Differ Widely in the US: A Survey by the Differences/Disorders of Sex Development Translational Research Network (DSD-TRN) (2019) (0)
- GENETIC: IDENTIFICATION OF SOX3 AS AN XX MALE SEX REVERSAL GENE IN MICE AND JUMANS (2011) (0)
- Deletions of Yq11 associated with short stature and the Turner syndrome. Tentative mapping of a region associated with specific Turner stigmata to proximal interval 5. (1994) (0)
- Benchmarking long-read genome sequence alignment tools for human genomics applications (2021) (0)
- Contents Vol. 11, 2017 (2018) (0)
- P227: De novo GATA4 deletion in a 46,XX boy with hypospadias and pulmonic valve stenosis (2023) (0)
- New syndromic association of male pseudohermaphroditism with female external genitalia and adrenal hypoplasia congenita suggests additional sex determining gene(s) (1999) (0)
- Title The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging Permalink (2014) (0)
- [Table, GeneReview Scope]. (2013) (0)
- Contents Vol. 87, 2008 (2008) (0)
- PATH-14. GENETIC SUSCEPTIBILITY AND OUTCOMES OF PEDIATRIC, ADOLESCENT AND YOUNG ADULT IDH-MUTANT ASTROCYTOMAS (2020) (0)
- Reprograming human fibroblasts into Sertoli cells: a tool for personalized medicine (2022) (0)
- DNA methylation patterns associated with cyanogenic cassava exposure and konzo in Sub-Saharan Africa (2021) (0)
- The Role of Sex Research Organizations in Eliminating Sexual Harassment (2019) (0)
- “Straight-Acting Gays”: The Relationship Between Masculine Consciousness, Anti-Effeminacy, and Negative Gay Identity (2012) (0)
- Chromosome 11 Region from Strain 129 Provides Protection from Sex Reversal in XY Mice AUTHORS AND AFFILIATIONS (2008) (0)
- Subject Index, Vol. 37, 1992 (1992) (0)
- Subject Index Vol. 87, 2008 (2008) (0)
- The Neuroanatomy of Transgender Identity: Mega-Analytic Findings From the ENIGMA Transgender Persons Working Group. (2021) (0)
- 05 - A genetic link between gender dysphoria and sex hormone signalling (2019) (0)
- training or treatment method of underground cavities by microgel (2004) (0)
- 3. Optical genome mapping reveals novel structural variants in pediatric high grade gliomas (2022) (0)
- IN VITRO EFFECTS OF A SINGLE NUCLEOTIDE POLYMORPHISM ON EXPRESSION OF EXTRACELLULAR MATRIX PROTEIN LAMININ GAMMA-1 (LAMC1) (2008) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Isolated X-Linked Adrenal Hypoplasia Congenita]. (2013) (0)
- Identification of differential hypothalamic DNA methylation and gene expression associated with sexual partner preferences in rams (2022) (0)
- Optical Genome Mapping Identifies a Novel Pediatric Embryonal Tumor Subtype with a ZNF532-NUTM1 Fusion (2022) (0)
- The End of Compulsory Gender Verification: Is It Progress for Inclusion of Women in Sports? (2021) (0)
- Table 1. [Summary of Molecular Genetic Testing...]. (2015) (0)
- Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis (2017) (0)
- 859: Autosomal Dominant Tranmission of Genitovaginal Prolapse (2005) (0)
- Table of Contents, Volume 175C, Number 2, June 2017 (2017) (0)
- "Sexual orientation, controversy, and science": Erratum. (2017) (0)
- Adrenal Hypoplasia Congenita and Male Pseudohermaphroditism: New Syndromic Association Association Additional Sex Determining Gene(s) (1999) (0)
- Helping Caregivers of Children with Differences/Disorders of Sex Development Decide on Treatment (2019) (0)
- MINIREVIEW Mammalian Sex Determination: From Gonads to Brain (1998) (0)
- The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging (2014) (0)
- COVID-19 and the International Academy of Sex Research: We Will Be Back (2020) (0)
- Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome (2014) (0)
- Hurdling Over Sex? Sport, Science, and Equity Nathan Q. HaShari L. DworkinMaria JoseMartinez-Patino • Alan D. RogolVernon RosarioFrancisco J. SanchezAlison Wrynn • (2014) (0)
- WNT 4 mediates the autocrine effects of growth hormone in mammary carcinoma cells (2016) (0)
- eP192: Differences of Sex Development (DSD) in Central Africa: Genetics, psychosocial adaptation and perceptions (2022) (0)
- Chapter 19 – Disorders of Sex Development (2016) (0)
- 46, XX true hermaphroditism associated with a terminal deletion of the short arm of the X chromosome (1994) (0)
- Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase (2015) (0)
- On the Validity of Popular Masculinity Rating Scales with Gay Men (2014) (0)
- A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative (2018) (0)
- 128 UPREGULATION OF WNT4 DISRUPTS TESTICULAR VASCULOGENESIS AND INHIBITS TESTOSTERONE SYNTHESIS. (2004) (0)
- Programmatic Detection of Diploid-Triploid Mixoploidy via Whole Genome Sequencing (2018) (0)
- Front & Back Matter (2021) (0)
- Table 2. [Testing Used in Complex Glycerol Kinase Deficiency]. (2013) (0)
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