Thierry Vilboux

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Progressive retinal atrophy in the Border Collie: a new XLPRA
    Thierry Vilboux
    IGDR CNRS, Genetique et Developpement, Faculte de Medecine, Universite de Rennes1, 35043 Rennes Cedex, France
    BMC Vet Res 4:10. 2008
  2. pmc Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 30:1611-9. 2009
  3. pmc Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 6:e22861. 2011
  4. pmc Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Invest Dermatol 131:2017-25. 2011
  5. pmc 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis
    Galina Nesterova
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Clin J Am Soc Nephrol 8:649-57. 2013
  6. pmc A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome
    Wendy Westbroek
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Mol Genet Metab 94:248-54. 2008
  7. pmc NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:732-4. 2011
  8. pmc A congenital neutrophil defect syndrome associated with mutations in VPS45
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    N Engl J Med 369:54-65. 2013
  9. pmc Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1
    Irini Manoli
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Am J Med Genet A 152:1474-83. 2010

Detail Information

Publications9

  1. pmc Progressive retinal atrophy in the Border Collie: a new XLPRA
    Thierry Vilboux
    IGDR CNRS, Genetique et Developpement, Faculte de Medecine, Universite de Rennes1, 35043 Rennes Cedex, France
    BMC Vet Res 4:10. 2008
    ....
  2. pmc Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 30:1611-9. 2009
    ..This study provides valuable resources for molecular analysis of alkaptonuria and expands our knowledge of the molecular basis of this disease...
  3. pmc Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 6:e22861. 2011
    ..2. Moreover, RAI1 expression emerged as a genetic target for development of therapeutic interventions for SMS...
  4. pmc Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Invest Dermatol 131:2017-25. 2011
    ....
  5. pmc 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis
    Galina Nesterova
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Clin J Am Soc Nephrol 8:649-57. 2013
    ..This study evaluated the cause of excess 1,25-dihydroxycholecalciferol (1α,25(OH)2D3) in the development of those disorders in two individuals...
  6. pmc A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome
    Wendy Westbroek
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Mol Genet Metab 94:248-54. 2008
    ..Co-immunoprecipitation studies showed that Rab27A(G43S) fails to interact with its effector Melanophilin, indicating that the switch I region functions in the recruitment of Rab effector proteins...
  7. pmc NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
    Meral Gunay-Aygun
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:732-4. 2011
    ..Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets...
  8. pmc A congenital neutrophil defect syndrome associated with mutations in VPS45
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    N Engl J Med 369:54-65. 2013
    ..Genetically determined neutrophil disorders confer a predisposition to severe infections and reveal novel mechanisms that control vesicular trafficking, hematopoiesis, and innate immunity...
  9. pmc Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1
    Irini Manoli
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Am J Med Genet A 152:1474-83. 2010
    ..Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient...