- Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigationV Laugel
Laboratory of Medical Genetics, Faculte de Medecine, 11 rue Humann, F 67000 Strasbourg, France
J Med Genet 45:564-71. 2008....
- Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonatesVincent 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...
- Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV 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/)...
- A possible cranio-oro-facial phenotype in Cockayne syndromeAgnes 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....
- Cockayne syndrome: the expanding clinical and mutational spectrumVincent 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...
- Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndromeVincent 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...
- Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutationsVincent Laugel
Department of Pediatrics, Strasbourg University Hospital, Strasbourg, France
Pediatr Neurol 36:54-7. 2007....
- Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stressUlrik 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....
- The influence of peritoneal surface area on dialysis adequacyMichel 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)...
- Daily on-line haemodiafiltration: a pilot trial in childrenMichel 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...
- Effect of peritoneal dialysis fluid composition on peritoneal area available for exchange in childrenMichel Fischbach
Nephrology Dialysis Transplantation Children s Unit, Hopital de Hautepierre, Avenue Moliere, 67098 Strasbourg, France
Nephrol Dial Transplant 19:925-32. 2004....
- Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndromeEric 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...
- The peritoneal membrane: a dynamic dialysis membrane in childrenMichel 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...
- Three new BLM gene mutations associated with Bloom syndromeMounira 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...
- Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophyWim 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...