Search Results - (Author, Cooperation:S. Bel)
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1Latest Papers from Table of Contents or Articles in PressStaff View
Publication Date: 2015-10-16Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsPublished by: -
2Latest Papers from Table of Contents or Articles in PressDanchin, E., Nöbel, S., Pocheville, A., Dagaeff, A.-C., Demay, L., Alphand, M., Ranty-Roby, S., van Renssen, L., Monier, M., Gazagne, E., Allain, M., Isabel, G.
American Association for the Advancement of Science (AAAS)
Published 2018Staff ViewPublication Date: 2018-11-30Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyGeosciencesComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Ecology, EvolutionPublished by: -
3Articles: DFG German National LicensesBaxter, Rachel V. ; Ben Othmane, Kamel ; Rochelle, Julie M. ; Stajich, Jason E. ; Hulette, Christine ; Dew-Knight, Susan ; Hentati, Faycal ; Ben Hamida, Mongi ; Bel, S. ; Stenger, Judy E. ; Gilbert, John R. ; Pericak-Vance, Margaret A. ; Vance, Jeffery M.
[s.l.] : Nature Publishing Group
Published 2002Staff ViewISSN: 1546-1718Source: Nature Archives 1869 - 2009Topics: BiologyMedicineNotes: [Auszug] We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 ...Type of Medium: Electronic ResourceURL: -
4Articles: DFG German National LicensesPellisé, M. ; Castells, A. ; Ginès, A. ; Solé, M. ; Mora, J. ; CastellvÍ-Bel, S. ; Rodríguez-Moranta, F. ; Fernàndez-Esparrach, G. ; Llach, J. ; Bordas, J. M. ; Navarro, S. ; Piqué, J. M.
Oxford, UK : Blackwell Science Ltd
Published 2003Staff ViewISSN: 1365-2036Source: Blackwell Publishing Journal Backfiles 1879-2005Topics: MedicineNotes: Aim : To establish the usefulness of KRAS mutational analysis in the diagnosis of pancreatic adenocarcinoma by comparing this technique with conventional cytology in aspirates obtained by endosonography-guided fine-needle aspiration.Methods : All consecutive patients with pancreatic focal lesions undergoing endosonography-guided fine-needle aspiration were included. Samples were obtained with the concourse of an attendant cytopathologist. Detection of codon-12 KRAS mutations was performed by the restriction fragment length polymorphism-polymerase chain reaction method. The effectiveness of conventional cytology, KRAS mutational analysis and their combination was established with respect to the definitive diagnosis. A cost-effectiveness analysis was also performed.Results : Thirty-three patients had pancreatic adenocarcinoma and 24 patients had other lesions. A total of 136 samples was obtained. In patients in whom specimens were adequate (93% for cytology; 100% for mutational analysis), the specificity of both techniques was 100%, whereas the sensitivity favoured cytology (97% vs. 73%). When inadequate samples were considered as misdiagnosed, a combination of both techniques reached the highest overall accuracy (cytology, 91%; mutational analysis, 84%; combination of both, 98%).Conclusions : Cytology from aspirates obtained by endosonography-guided fine-needle aspiration is the most precise single technique for the diagnosis of pancreatic adenocarcinoma. However, when adequate specimens are not available to reach a cytological diagnosis, the addition of KRAS mutational analysis represents the best strategy.Type of Medium: Electronic ResourceURL: -
5Articles: DFG German National LicensesMilà, M. ; Kruyer, H. ; Glover, G. ; Sánchez, A. ; Carbonell, P. ; Castellví-Bel, S. ; Volpini, V. ; Rosell, J. ; Gabarrón, J. ; López, I. ; Villa, M. ; Ballesta, F. ; Estivill, X.
Springer
Published 1994Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract The fragile X mental retardation syndrome is caused by an expansion of a trinucleotide repeat (CGG)n in the FMR-1 gene. Molecular genetic study of fragile X provides accurate diagnosis and facilitates genetic counseling in families with affected members. We present here the molecular study of 59 Spanish fragile X syndrome families using probe StB 12.3 and the polymerase chain reaction (PCR) of the (CGG)n repeat sequence of the FMR-1 gene. The results obtained have allowed us to characterize 455 individuals, including eight prenatal diagnoses. The clinical diagnosis of fragile X in 89 affected males was confirmed, 137 female carriers were identified (48 of whom were mentally retarded), 176 individuals “at risk” were found not to have the expansion, and 12 cases of normal transmitting males (NTM) were detected. In the sample studied, no de novo mutations were detected, nor any mutation different from that described for the (CGG)n expansion. One nonmentally retarded male was detected as having an unmethylated CpG island for the FMR-1 gene, but with more than 200 CGG repeats (high functioning male). The analysis of the (CGG)n repeat in 208 normal chromosomes gave an allele distribution similar to that in other Caucasoid population groups, with alleles of 29 and 30 CGG repeats accounting for 46% of the chromosomes. The combination of Southern analysis and PCR of the (CGG)n repeat is highly efficient for diagnosis, compared with cytogenetic techniques, especially in the detection of female carriers, NTMs, and prenatal diagnosis, enabling accurate genetic counseling to be provided in all cases.Type of Medium: Electronic ResourceURL: