Chair, Medical Genetics Clinic; Director, Center for Gender-Based Biology; Professor, Pediatrics; Urology; Human Genetics; Member, ACCESS Program: Dept. of Human Genetics; Neuroscience IDP; Brain Research Institute; CTSI, UCLA School of Medicine

Medical Genetics

Eric J. Vilain, MD works in the field of Medical Genetics. He has 1 awards "Super Doctor". Eric Vilain is also a published doctor. He has 102 publication published. The most recent publication is: CYPs, SNPs, and molecular diagnosis in the postgenomic era.

Publications

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• A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
• An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
• De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay.
• Exome sequencing for the diagnosis of 46,XY disorders of sex development.
• DSDs: genetics, underlying pathologies and psychosexual differentiation.
• Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
• Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.
• On the Validity of Popular Masculinity Rating Scales with Gay Men.
• Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
• Interpreting whole-genome sequencing.
• Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome.
• Regulation of Sex Determination in Mice by a Non-Coding Genomic Region.
• Mutant cohesin in premature ovarian failure.
• 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 neurodevelopment...
• Translational Genetics for Diagnosis of Human Disorders of Sex Development.
• Membrane β-catenin and adherens junctions in early gonadal patterning.
• Targeted Massively Parallel Sequencing Provides Comprehensive Genetic Diagnosis for Patients with Disorders of Sex Development.
• Acceleration of Age-Associated Methylation Patterns in HIV-1-Infected Adults.
• The biological basis of human sexual orientation: is there a role for epigenetics?
• The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging.
• The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance.
• Genetics of sexual development.
• Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.
• Midkine is expressed early in rat fetal adrenal development.
• Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway.
• AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
• Defects in energy metabolism: coming of age, slowly.
• IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
• Newborn screening for inborn errors of metabolism is going to expand: are we ready?
• CYPs, SNPs, and molecular diagnosis in the postgenomic era.
• Mammalian sex determination: from gonads to brain.
• DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
• DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line.
• Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
• t(15;17) hypergranular acute promyelocytic leukemia (M3) developing into a t(3;6) M3 without t(15;17) at relapse.
• Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata.
• A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.
• Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor.
• Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome.
• Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation.
• Control of sex determination in animals.
• [Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].
• Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences.
• SRY-negative XX fetus with complete male phenotype.
• [Brief antiseptic application of iodine in neonatal intensive care units: effects on thyroid function].
• Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature.
• Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.
• [The analysis of SRY doesn''t explain all the pathology of sex determination].
• XY sex reversal associated with a nonsense mutation in SRY.
• Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
• [Isolation of the sex-determining gene in men].
• [Sex genetics].
• XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.
• A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.
• The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability.
• Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
• Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene.
• The endless quest for sex determination genes.
• Dead chromosome walking.
• Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
• Anomalies of human sexual development: clinical aspects and genetic analysis.
• Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia.
• Regional gray matter variation in male-to-female transsexualism.
• Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
• Androgen receptor repeat length polymorphism associated with male-to-female transsexualism.
• Human SRY inhibits beta-catenin-mediated transcription.
• Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation.
• The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice.
• Prolactin expression in the sheep brain.
• Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane.
• Sex differences in brain and behavior: hormones versus genes.
• Lack of vasoactive intestinal peptide reduces testosterone levels and reproductive aging in mouse testis.
• Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ.
• We used to call them hermaphrodites.
• [A neuropeptide at the origin of testicular aging?].
• Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.
• Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development.
• Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.
• Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice.
• IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.
• Direct regulation of adult brain function by the male-specific factor SRY.
• A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.
• Extreme skewing of X chromosome inactivation in mothers of homosexual men.
• Familial transmission of genitovaginal prolapse.
• Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation.
• Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy.
• Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
• Sry and the genetics of sex determination.
• Disorders of gonadal development.
• Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.
• Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
• The evolution of the search for novel genes in mammalian sex determination: from mice to men.
• Epigenetic predictor of age.
• The genetics of ovotesticular disorders of sex development.
• Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.
• Identification of SOX3 as an XX male sex reversal gene in mice and humans.
• Genes and brain sex differences.
• The genetics of sex differences in brain and behavior.
• A practical approach to ambiguous genitalia in the newborn period.
• Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
• The importance of having two X chromosomes.

Schools

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• University Of Paris UFR Of Medicine NeckerEnfants Malades

• Hopitaux De Paris

• University Of California Los Angeles

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Medical Genetics

Accepted Insurances

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Awards

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• Super Doctor

Education

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• Cedars-Sinai Medical Center
• Necker- Enfants Malades Hospital

Hospital

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• Mattel Children's Hospital UCLA
• Ronald Reagan UCLA Medical Center
• Santa Monica-UCLA Medical Center and Orthopaedic Hospital

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