Vincent Laugel

Summary

Country: France

Publications

  1. doi request reprint Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
    V Laugel
    Laboratory of Medical Genetics, Faculte de Medecine, 11 rue Humann, F 67000 Strasbourg, France
    J Med Genet 45:564-71. 2008
  2. ncbi request reprint Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates
    Vincent Laugel
    Department of Pediatrics, Strasbourg University Hospital, Strasbourg Cedex, France
    Eur J Pediatr 167:517-23. 2008
  3. doi request reprint Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
    V Laugel
    Laboratory of Medical Genetics, University of Strasbourg, Strasbourg, France
    Hum Mutat 31:113-26. 2010
  4. pmc A possible cranio-oro-facial phenotype in Cockayne syndrome
    Agnes Bloch-Zupan
    Faculté de Chirurgie Dentaire de Strasbourg, Universite de Strasbourg, 1 Place de l Hopital, Strasbourg 67000, France
    Orphanet J Rare Dis 8:9. 2013
  5. doi request reprint Cockayne syndrome: the expanding clinical and mutational spectrum
    Vincent Laugel
    Department of Pediatrics, Strasbourg Hautepierre University Hospital, Avenue Moliere, F 67098 Strasbourg, France
    Mech Ageing Dev 134:161-70. 2013
  6. doi request reprint Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome
    Vincent Laugel
    Laboratory of Medical Genetics, Faculte de Medecine, Strasbourg, France
    Eur J Hum Genet 16:320-7. 2008
  7. ncbi request reprint Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations
    Vincent Laugel
    Department of Pediatrics, Strasbourg University Hospital, Strasbourg, France
    Pediatr Neurol 36:54-7. 2007
  8. pmc Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress
    Ulrik Kristensen
    Department of Functional Genomics and Cancer Biology, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale, Laboratory of Medical Genetics, University of Strasbourg, 67404 Illkirch Cedex, France
    Proc Natl Acad Sci U S A 110:E2261-70. 2013
  9. ncbi request reprint The influence of peritoneal surface area on dialysis adequacy
    Michel Fischbach
    Nephrology Dialysis and Transplantation, Children s Unit, University Louis Pasteur, Strasbourg, France
    Perit Dial Int 25:S137-40. 2005
  10. ncbi request reprint Daily on-line haemodiafiltration: a pilot trial in children
    Michel Fischbach
    Nephrology Dialysis Transplantation Children s Unit, Hospital de Hautepierre, Avenue Moliere, 67098 Strasbourg, France
    Nephrol Dial Transplant 19:2360-7. 2004

Collaborators

Detail Information

Publications15

  1. doi request reprint Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
    V Laugel
    Laboratory of Medical Genetics, Faculte de Medecine, 11 rue Humann, F 67000 Strasbourg, France
    J Med Genet 45:564-71. 2008
    ....
  2. ncbi request reprint Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates
    Vincent Laugel
    Department of Pediatrics, Strasbourg University Hospital, Strasbourg Cedex, France
    Eur J Pediatr 167:517-23. 2008
    ..These recent clinical data can be used to improve our strategy in investigating neonatal hypotonia and a diagnostic algorithm is proposed based on our findings...
  3. doi request reprint Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
    V Laugel
    Laboratory of Medical Genetics, University of Strasbourg, Strasbourg, France
    Hum Mutat 31:113-26. 2010
    ..Two web-based locus-specific databases have been created to list all identified variants and to allow the inclusion of future reports (www.umd.be/CSA/ and www.umd.be/CSB/)...
  4. pmc A possible cranio-oro-facial phenotype in Cockayne syndrome
    Agnes Bloch-Zupan
    Faculté de Chirurgie Dentaire de Strasbourg, Universite de Strasbourg, 1 Place de l Hopital, Strasbourg 67000, France
    Orphanet J Rare Dis 8:9. 2013
    ....
  5. doi request reprint Cockayne syndrome: the expanding clinical and mutational spectrum
    Vincent Laugel
    Department of Pediatrics, Strasbourg Hautepierre University Hospital, Avenue Moliere, F 67098 Strasbourg, France
    Mech Ageing Dev 134:161-70. 2013
    ..Large clinical and molecular databases are needed to unravel genotype-phenotype correlations and to gain more insight into the underlying molecular mechanisms...
  6. doi request reprint Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome
    Vincent Laugel
    Laboratory of Medical Genetics, Faculte de Medecine, Strasbourg, France
    Eur J Hum Genet 16:320-7. 2008
    ..Our patients do not fit the proposed paradigm and new hypotheses are required to account for the pathophysiology of Cockayne syndrome, at the crossroads between DNA repair and transcription...
  7. ncbi request reprint Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations
    Vincent Laugel
    Department of Pediatrics, Strasbourg University Hospital, Strasbourg, France
    Pediatr Neurol 36:54-7. 2007
    ....
  8. pmc Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress
    Ulrik Kristensen
    Department of Functional Genomics and Cancer Biology, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale, Laboratory of Medical Genetics, University of Strasbourg, 67404 Illkirch Cedex, France
    Proc Natl Acad Sci U S A 110:E2261-70. 2013
    ....
  9. ncbi request reprint The influence of peritoneal surface area on dialysis adequacy
    Michel Fischbach
    Nephrology Dialysis and Transplantation, Children s Unit, University Louis Pasteur, Strasbourg, France
    Perit Dial Int 25:S137-40. 2005
    ..Moreover, future peritoneal dialysis fluids should protect the peritoneal membrane from hyperperfusion (lower glucose degradation products)...
  10. ncbi request reprint Daily on-line haemodiafiltration: a pilot trial in children
    Michel Fischbach
    Nephrology Dialysis Transplantation Children s Unit, Hospital de Hautepierre, Avenue Moliere, 67098 Strasbourg, France
    Nephrol Dial Transplant 19:2360-7. 2004
    ..In them, the usual weekly schedule of dialysis is often unsuitable. We conducted a study of conversion to daily dialysis, which allowed an enhanced dialysis dose, a gentle ultrafiltration rate and achievement of dry body weight...
  11. ncbi request reprint Effect of peritoneal dialysis fluid composition on peritoneal area available for exchange in children
    Michel Fischbach
    Nephrology Dialysis Transplantation Children s Unit, Hopital de Hautepierre, Avenue Moliere, 67098 Strasbourg, France
    Nephrol Dial Transplant 19:925-32. 2004
    ....
  12. doi request reprint Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome
    Eric Frouin
    Service d Anatomie et Cytologie Pathologiques, Centre Hospitalier Universitaire de Montpellier, Montpellier, France2Service d Anatomie et Cytologie Pathologiques, Universite de Montpellier, Montpellier, France3Service de Dermatologie, Hopital Civil, Hopitaux Universitaires de Strasbourg, Strasbourg, France4Faculté de Médecine, Universite de Strasbourg, Strasbourg, France
    JAMA Dermatol 149:1414-8. 2013
    ..Our aim was to describe the cutaneous phenotype of patients with these rare diseases...
  13. ncbi request reprint The peritoneal membrane: a dynamic dialysis membrane in children
    Michel Fischbach
    Dialysis Children s Unit, CHU Hautepierre, Strasbourg, France
    Adv Perit Dial 19:265-8. 2003
    ..Vascular area is dynamically affected by a variety of factors, such as the composition of the peritoneal dialysis fluid, the fill volume, and possible inflammatory agents...
  14. doi request reprint Three new BLM gene mutations associated with Bloom syndrome
    Mounira Amor-Gueret
    Institut Curie, Centre de Recherche, Orsay, France
    Genet Test 12:257-61. 2008
    ..All these mutations introduce a stop codon, and may therefore be considered to have deleterious biological effect. This approach should make it possible to identify new mutations and to correlate them with clinical information...
  15. doi request reprint Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
    Wim J Kleijer
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    DNA Repair (Amst) 7:744-50. 2008
    ..1 per million for TTD. Perhaps contrary to general conceptions, compared to XP the incidence of CS appears to be somewhat higher and the incidence of TTD to be quite similar in the native West-European population...