Sandrine Vuillaumier

Summary

Country: France

Publications

  1. ncbi Expanding the Spectrum of PMM2-CDG Phenotype
    Sandrine Vuillaumier-Barrot
    Laboratoire de Biochimie, AP HP, Hopital Bichat Claude Bernard, 46, rue Henri Huchard, 75877, Paris Cedex 18, France
    JIMD Rep 5:123-5. 2012
  2. ncbi Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
    Sandrine Vuillaumier-Barrot
    Assistance Publique Hopitaux de Paris, Hopital Bichat Claude Bernard, Biochimie, Paris 75877, France
    Am J Hum Genet 91:1135-43. 2012
  3. ncbi ETB receptor polymorphism is associated with airway obstruction
    Camille Taillé
    Service de Pneumologie, Hopital Bichat Claude Bernard, Assistance Publique Hopitaux de Paris, Paris, France
    BMC Pulm Med 7:5. 2007
  4. ncbi Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies
    S Vuillaumier-Barrot
    APHP, Hopital Bichat Claude Bernard, Biochimie, 46 rue Henri Huchard, Paris Cedex 18, France
    Neuromuscul Disord 21:782-90. 2011
  5. ncbi Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype
    S Vuillaumier-Barrot
    AP HP, Hopital Bichat Claude Bernard, Biochimie Métabolique et Cellulaire, 46 rue Henri Huchard, Paris 75018, France
    Neuromuscul Disord 19:182-8. 2009
  6. ncbi Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping
    S Vuillaumier-Barrot
    Biochimie A, Hopital Bichat Claude Bernard, 75877 Paris Cedex 18, France
    Hum Mutat 14:543-4. 1999
  7. ncbi Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
    T Dupre
    Laboratoire Biochimie A, INSERM, 3ème étage de la tour, 46 rue Henri Huchard, 75018 Paris, France
    J Med Genet 47:729-35. 2010
  8. ncbi Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC)
    S Vuillaumier-Barrot
    Assistance Publique Hopitaux de Paris, Biochimie, Hopital Bichat Claude Bernard, Paris, France
    Neuropediatrics 41:267-9. 2010
  9. ncbi [Congenital Disorders of Glycosylation (CDG)]
    P de Lonlay
    AP-HP, , , 149, , 75015 Paris
    Arch Pediatr 15:602-5. 2008
  10. ncbi Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
    S Vuillaumier-Barrot
    Biochimie A, Hopital Bichat Claude Bernard, Paris, France
    J Med Genet 37:579-80. 2000

Collaborators

Detail Information

Publications12

  1. ncbi Expanding the Spectrum of PMM2-CDG Phenotype
    Sandrine Vuillaumier-Barrot
    Laboratoire de Biochimie, AP HP, Hopital Bichat Claude Bernard, 46, rue Henri Huchard, 75877, Paris Cedex 18, France
    JIMD Rep 5:123-5. 2012
    ..Finally, the absence of any abnormal clinical or biological signs as for the case completes the clinical spectrum of PMM2-CDG at its extreme end, at the opposite of the supposed total lethality of the R141H homozygous status...
  2. ncbi Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
    Sandrine Vuillaumier-Barrot
    Assistance Publique Hopitaux de Paris, Hopital Bichat Claude Bernard, Biochimie, Paris 75877, France
    Am J Hum Genet 91:1135-43. 2012
    ..TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies...
  3. ncbi ETB receptor polymorphism is associated with airway obstruction
    Camille Taillé
    Service de Pneumologie, Hopital Bichat Claude Bernard, Assistance Publique Hopitaux de Paris, Paris, France
    BMC Pulm Med 7:5. 2007
    ..The purpose of this study was to investigate whether the genetic polymorphisms of preproET-1, EDNRA and EDNRB genes were associated with the degree of airway obstruction, assessed by FEV1...
  4. ncbi Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies
    S Vuillaumier-Barrot
    APHP, Hopital Bichat Claude Bernard, Biochimie, 46 rue Henri Huchard, Paris Cedex 18, France
    Neuromuscul Disord 21:782-90. 2011
    ....
  5. ncbi Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype
    S Vuillaumier-Barrot
    AP HP, Hopital Bichat Claude Bernard, Biochimie Métabolique et Cellulaire, 46 rue Henri Huchard, Paris 75018, France
    Neuromuscul Disord 19:182-8. 2009
    ..Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP...
  6. ncbi Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping
    S Vuillaumier-Barrot
    Biochimie A, Hopital Bichat Claude Bernard, 75877 Paris Cedex 18, France
    Hum Mutat 14:543-4. 1999
    ..The E139K mutant protein could be expressed at a sufficient level in vivo to confer residual activity compatible with life in these patients when absence of residual PMM activity is likely lethal...
  7. ncbi Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
    T Dupre
    Laboratoire Biochimie A, INSERM, 3ème étage de la tour, 46 rue Henri Huchard, 75018 Paris, France
    J Med Genet 47:729-35. 2010
    ..Clinical data for the five new patients were collated...
  8. ncbi Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC)
    S Vuillaumier-Barrot
    Assistance Publique Hopitaux de Paris, Biochimie, Hopital Bichat Claude Bernard, Paris, France
    Neuropediatrics 41:267-9. 2010
    ..Automated Sanger sequencing and MLPA analyses failed to detect any SLC2A1 mutations in the 23 patients analyzed, thus excluding mutations of this gene as a frequent cause of classical AHC...
  9. ncbi [Congenital Disorders of Glycosylation (CDG)]
    P de Lonlay
    AP-HP, , , 149, , 75015 Paris
    Arch Pediatr 15:602-5. 2008
  10. ncbi Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
    S Vuillaumier-Barrot
    Biochimie A, Hopital Bichat Claude Bernard, Paris, France
    J Med Genet 37:579-80. 2000
    ..Our results indicate that the new mutations identified here are less severe than the inactive R141H mutant protein, conferring residual PMM activity compatible with life...
  11. ncbi The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic
    S Vuillaumier-Barrot
    Biochimie A, Hopital Bichat Claude Bernard, Paris, France
    J Hum Genet 46:547-8. 2001
    ..6%) and 3 homozygous individuals (5.5%). This result indicates that T911C is a common polymorphism with an allele frequency of 27% in a French population and not a causal mutation of congenital disorder of glycosylation type Ic...
  12. ncbi Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families
    C Bouchet
    APHP, Bichat Claude Bernard Hospital, Biochimie Métabolique et Cellulaire, Paris, France
    Mol Genet Metab 90:93-6. 2007
    ..However, this is the first report of a retrotransposon insertion in the POMT1 gene associated with WWS...