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. doi request reprint TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family
    Dino Maglic
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Hum Mutat 37:1144-1148. 2016
  4. doi request reprint Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA
    J Med Genet 53:318-29. 2016
  5. doi request reprint CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency
    Thierry Vilboux
    Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A . 2017
  6. 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
  7. 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
  8. doi request reprint Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant
    Patra Yeetong
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A 170:2383-8. 2016
  9. 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
  10. 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

Collaborators

Detail Information

Publications19

  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. doi request reprint TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family
    Dino Maglic
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Hum Mutat 37:1144-1148. 2016
    ..We believe that the combination of this gene conversion with different missense mutations led to a spectrum of phenotypes that span JS and MGS...
  4. doi request reprint Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA
    J Med Genet 53:318-29. 2016
    ..Laminins are heterotrimeric complexes, consisting of α, β and γ subunits that form a major component of basement membranes and extracellular matrix. Laminin complexes have different, but often overlapping, distributions and functions...
  5. doi request reprint CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency
    Thierry Vilboux
    Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A . 2017
    ..Here, we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency. © 2017 Wiley Periodicals, Inc...
  6. 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...
  7. 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
    ....
  8. doi request reprint Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant
    Patra Yeetong
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A 170:2383-8. 2016
    ..2016 Wiley Periodicals, Inc. ..
  9. 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...
  10. 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...
  11. 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...
  12. pmc Coat colour in dogs: identification of the merle locus in the Australian shepherd breed
    Benoit Hedan
    UMR 6061 CNRS, Genetique et Developpement, Faculte de Medecine, Universite de Rennes1, 35043 Rennes Cedex, France
    BMC Vet Res 2:9. 2006
    ..The merle phenotype includes a lack of eumelanic pigmentation and developmental defects, hearing impairments and microphthalmia. It is similar to that observed in microphthalmia mouse mutants...
  13. 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...
  14. doi request reprint Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
    May Christine V Malicdan
    NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    J Med Genet 52:830-9. 2015
    ....
  15. pmc Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations
    Joshi Stephen
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Eur J Hum Genet 24:1268-73. 2016
    ..These cases of DGAT1 deficiency extend the molecular and phenotypic spectrum of PLE, suggesting a re-evaluation of the use of DGAT1 inhibitors for metabolic disorders including obesity and diabetes. ..
  16. doi request reprint Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
    Thierry Vilboux
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med . 2017
    ..To date, more than 30 JS genes have been identified, but these do not account for all patients...
  17. pmc Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
    David R Adams
    Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, MD, USA Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA Electronic address
    Mol Genet Metab 113:161-70. 2014
    ..In summary, we present the first clinically-characterized mutation of PCK1 and demonstrate that complex medical disorders can represent the co-occurrence of multiple diseases. ..
  18. pmc Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2)
    Jianying Yang
    From the Division of Rheumatology, Department of Medicine, University of Minnesota, Minneapolis, MN and Cancer Genetics Branch, Medical Genetics Branch, and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
    J Clin Rheumatol 20:291-3. 2014
    ..Our data are consistent with potential loss of function for the BAFF (B cell-activating factor) receptor TACI as a contributing factor to human autoimmune phenomena. ..
  19. 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...