ERIC J VILAIN

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
    Samuel 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
  2. pmc Epigenetic predictor of age
    Sven Bocklandt
    Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS ONE 6:e14821. 2011
  3. pmc Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
    Valerie A Arboleda
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA
    Nat Genet 44:788-92. 2012
  4. ncbi request reprint IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
    E Vilain
    Department of Human Genetics, University of California School of Medicine, Los Angeles 90095, USA
    J Clin Endocrinol Metab 84:4335-40. 1999
  5. ncbi request reprint Genetics of sexual development
    E 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
  6. ncbi request reprint We used to call them hermaphrodites
    Eric 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
  7. pmc DAX1 mutations map to putative structural domains in a deduced three-dimensional model
    Y H Zhang
    Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 62:855-64. 1998
  8. ncbi request reprint Mammalian sex determination: from gonads to brain
    E 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

Collaborators

  • Hane Lee
  • ESTEBAN C DELL'ANGELICA
  • Janet S Sinsheimer
  • Mary E Sehl
  • J D Wilson
  • Ignacio Bergada
  • Olaf Hiort
  • Samuel P Strom
  • Stanley F Nelson
  • Valerie A Arboleda
  • Sven Bocklandt
  • Fabiola Quintero-Rivera
  • Joshua L Deignan
  • Patricia F O'Lague
  • John Mann
  • Reymundo Lozano
  • Naghmeh Dorrani
  • Wayne W Grody
  • Nicole Mans
  • Abhik Banerjee
  • Débora Braslavsky
  • Emmanuèle C Délot
  • Bruno Ferraz-de-Souza
  • John C Achermann
  • Imilce A Rodriguez-Fernandez
  • Alice Fleming
  • Rahul Parnaik
  • Julian A Martinez-Agosto
  • Francisco J Sanchez
  • Wen Lin
  • Steve Horvath
  • Y H Zhang
  • A H Burghes
  • M I New
  • C A Quigley
  • W Guo
  • E R McCabe
  • T P Burris
  • G J Klingensmith
  • A E Chudley
  • I M Rosenthal
  • J D Baxter
  • R J Fletterick
  • K Anyane-Yeboa
  • M Genel
  • L McCabe
  • J Nakamoto
  • B L Huang
  • J M Gertner
  • R A Pagon
  • J G Pappas
  • R L Wagner
  • S N Levine
  • D Chitayat

Detail Information

Publications8

  1. pmc De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
    Samuel 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...
  2. pmc Epigenetic predictor of age
    Sven Bocklandt
    Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS ONE 6:e14821. 2011
    ....
  3. pmc Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
    Valerie 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...
  4. ncbi request reprint IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
    E 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...
  5. ncbi request reprint Genetics of sexual development
    E 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...
  6. ncbi request reprint We used to call them hermaphrodites
    Eric 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
  7. pmc DAX1 mutations map to putative structural domains in a deduced three-dimensional model
    Y 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...
  8. ncbi request reprint Mammalian sex determination: from gonads to brain
    E 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...