S Briault

Summary

Country: France

Publications

  1. ncbi A gene for FG syndrome maps in the Xq12-q21.31 region
    S Briault
    Service de Genetique, CHU Bretonneau, Tours, France
    Am J Med Genet 73:87-90. 1997
  2. ncbi Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?
    S Briault
    Service de Genetique, CHU Bretonneau, Tours, France
    Am J Med Genet 95:178-81. 2000
  3. ncbi Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome
    S Briault
    Service de Genetique, CHU Bretonneau, Tours, France
    Am J Med Genet 86:112-4. 1999
  4. ncbi X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1
    M Raynaud
    Unité de Génétique Hospital Bretonneau, Tours, France
    Am J Med Genet 64:97-106. 1996
  5. ncbi X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region
    C Gendrot
    Laboratoire de Biochimie B, CHU Bretonneau, Tours, France
    Clin Genet 45:145-53. 1994
  6. ncbi Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families
    M Raynaud
    Unité de Génétique et INSERM U316, Hopital Bretonneau, Tours, France
    Eur J Hum Genet 8:253-8. 2000
  7. ncbi Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Nature 392:923-6. 1998
  8. ncbi MECP2 is highly mutated in X-linked mental retardation
    P Couvert
    INSERM Unité 129 ICGM, CHU Cochin 24 Rue du Faubourg Saint Jacques, 75014 Paris, France
    Hum Mol Genet 10:941-6. 2001
  9. ncbi Six cases of cryptic subtelomeric translocations in four families: the use of subtelomeric FISH probes as a diagnostic tool
    A Paoloni-Giacobino
    Department of Molecular Genetics and Biochemistry, University of Pittsburgh Medical School, Pennsylvania 15213, USA
    Genet Couns 17:15-28. 2006
  10. ncbi Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men
    J Gekas
    Department of Cytogenetics, University Hospital of Amiens, Italy
    Hum Reprod 16:82-90. 2001

Collaborators

Detail Information

Publications12

  1. ncbi A gene for FG syndrome maps in the Xq12-q21.31 region
    S Briault
    Service de Genetique, CHU Bretonneau, Tours, France
    Am J Med Genet 73:87-90. 1997
    ..95 or more. This region could be reduced to the DXS135-DXS72 interval after combining our data with those from deletions previously described in males in the Xq13-q21 region...
  2. ncbi Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?
    S Briault
    Service de Genetique, CHU Bretonneau, Tours, France
    Am J Med Genet 95:178-81. 2000
    ..2 and one positive for the color vision pigment genes and G6PD loci at Xq28, were found to cross the breakpoints, respectively. We postulate that a gene might be disrupted by one of the breakpoints...
  3. ncbi Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome
    S Briault
    Service de Genetique, CHU Bretonneau, Tours, France
    Am J Med Genet 86:112-4. 1999
    ..Here, we report on a chromosome X inversion [inv(X)(q12q28)] in a boy with FG syndrome and in his mentally retarded maternal uncle, and we discuss the possible involvement of this paracentric inversion in the FG syndrome...
  4. ncbi X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1
    M Raynaud
    Unité de Génétique Hospital Bretonneau, Tours, France
    Am J Med Genet 64:97-106. 1996
    ..In numerous families with non-specific X-linked mental retardation (MRX), the corresponding gene has been localized to the paracentromeric region in which a low recombination rate impairs the precision of mapping...
  5. ncbi X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region
    C Gendrot
    Laboratoire de Biochimie B, CHU Bretonneau, Tours, France
    Clin Genet 45:145-53. 1994
    ..2 and DXS441 at Xq13.3, respectively. These results suggested gene localization in the pericentromeric region of the X chromosome, and the LOD scores justified assignment of the symbol MRX14 to this family...
  6. ncbi Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families
    M Raynaud
    Unité de Génétique et INSERM U316, Hopital Bretonneau, Tours, France
    Eur J Hum Genet 8:253-8. 2000
    ..Extremely skewed profiles were observed in carriers in three of 19 families...
  7. ncbi Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    P Billuart
    INSERM U129 ICGM, Faculté de Médecine Cochin, Paris, France
    Nature 392:923-6. 1998
    ..Such activation is known to affect cell migration and outgrowth of axons and dendrites in vivo. Our results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase...
  8. ncbi MECP2 is highly mutated in X-linked mental retardation
    P Couvert
    INSERM Unité 129 ICGM, CHU Cochin 24 Rue du Faubourg Saint Jacques, 75014 Paris, France
    Hum Mol Genet 10:941-6. 2001
    ..Therefore, implementation of systematic screening of MECP2 in MR patients should result in significant progress in the field of molecular diagnosis and genetic counseling of mental handicap...
  9. ncbi Six cases of cryptic subtelomeric translocations in four families: the use of subtelomeric FISH probes as a diagnostic tool
    A Paoloni-Giacobino
    Department of Molecular Genetics and Biochemistry, University of Pittsburgh Medical School, Pennsylvania 15213, USA
    Genet Couns 17:15-28. 2006
    ..3;q36) associated with MR and dysmorphic features. We discuss the usefulness of subtelomeric FISH in children with unexplained delayed psychomotor development, when the genetic cause remains unknown and the karyotype is normal...
  10. ncbi Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men
    J Gekas
    Department of Cytogenetics, University Hospital of Amiens, Italy
    Hum Reprod 16:82-90. 2001
    ..Indeed, the existence of a chromosome abnormality in the female partner was associated with the group of infertile men in which there was no apparent cause of infertility...
  11. ncbi Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal
    R Pop
    J Med Genet 41:e47. 2004
  12. ncbi [Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation]
    J E Forissier
    Service de cardiologie, Hopital Ambroise Pare, Boulogne Billancourt
    Arch Mal Coeur Vaiss 98:67-70. 2005
    ..CONCLUSION: This finding reinforces the highly variable phenotypic expression of LMNA mutation and emphasizes the fact that LMNA mutations can be associated with different cardiac phenotypes...