ERIC J VILAIN
Affiliation: University of California
- De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencingSamuel P Strom
Clinical Genomics Center, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
BMC Med Genet 15:49. 2014..MIM#: 605130]. Here we report two unrelated children for whom clinical exome sequencing of parent-proband trios was performed at UCLA, resulting in a molecular diagnosis of WSS and atypical clinical presentation...
- Epigenetic predictor of ageSven Bocklandt
Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America
PLoS ONE 6:e14821. 2011....
- Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndromeValerie A Arboleda
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA
Nat Genet 44:788-92. 2012..All IMAGe-associated mutations clustered in the PCNA-binding domain of CDKN1C and resulted in loss of PCNA binding, distinguishing them from the mutations of CDKN1C that cause Beckwith-Wiedemann syndrome, an overgrowth syndrome...
- IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesE Vilain
Department of Human Genetics, University of California School of Medicine, Los Angeles 90095, USA
J Clin Endocrinol Metab 84:4335-40. 1999..Identification of the molecular basis of the IMAGe association will give new insight into the pathogenesis of this syndromic relationship involving bone, adrenal cortical, and pituitary development...
- Genetics of sexual developmentE Vilain
UCLA, Department of Human Genetics, Gonda Center, Room 6357A, 695 Charles Young Drive South, Los Angeles, CA 90095 7088, USA
Annu Rev Sex Res 11:1-25. 2000..Only a minority of sex-reversed patients can be explained genetically, suggesting that many genes influencing sex determination are yet to be discovered...
- We used to call them hermaphroditesEric Vilain
Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California 90095 7088, USA
Genet Med 9:65-6. 2007
- DAX1 mutations map to putative structural domains in a deduced three-dimensional modelY H Zhang
Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA, USA
Am J Hum Genet 62:855-64. 1998..We conclude that most genetic alterations in DAX1 are frameshift or nonsense mutations and speculate that the codon deletion and missense mutations give insight into the structure and function of DAX1...
- Mammalian sex determination: from gonads to brainE Vilain
Department of Human Genetics, UCLA School of Medicine and UCLA Children's Hospital, Los Angeles, California, 90095-1752, USA
Mol Genet Metab 65:74-84. 1998..Normal sexual development may result from the functional and developmental integration of a number of different genes that play roles in sex determination, sexual differentiation, and sexual behavior...