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159 results on '"Gouider E"'

1. PB0827 WFH World Bleeding Disorders Registry Launches the First Global Data Collection on People with von Willebrand Disease

Author

Ayoub, E., primary, Coffin, D., additional, Konkle, B., additional, Connell, N., additional, Sathar, J., additional, Diop, S., additional, Hermans, C., additional, Lambert, C., additional, Noone, D., additional, O'Hara, J., additional, Pierce, G., additional, Dakik, P., additional, Tootoonchian, E., additional, Youttananukorn, T., additional, Gouider, E., additional, and Iorio, A., additional

Published
2023
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5. PB1824: IMPACT OF DAY 15 BONE MARROW ASPIRATION ON PREDICTION OF COMPLETE REMISSION AND RELAPSE IN ACUTE MYELOID LEUKEMIA

Author

Kharrat, R., primary, Charef, O., additional, Berred, R., additional, Chabaane, A., additional, Sammoud, S., additional, Bchir, M., additional, Ben Lakhal, F., additional, Feki, S., additional, Borgi, W., additional, Gouider, E., additional, Amouri, A., additional, Ayed, W., additional, Ben Neji, H., additional, and Meddeb, B., additional

Published
2022
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41. Nodular Rash in a Male Patient: A Quiz

Author

Benmously-Mlika, R, primary, Gouider, E, additional, Hammami, H, additional, Sliti, N, additional, Ben Jennet, S, additional, Ben Abid, H, additional, Mokhtar, I, additional, and Fenniche, S, additional

Published
2010
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45. Neuroancanthocytose: un diagnostic à ne pas méconnaître

Author

Larbi, T., primary, Abdallah, M., additional, Gouider, E., additional, Ben Farhat, L., additional, Hamzaoui, S., additional, Harmel, A., additional, Ennafaa, M., additional, Bouslama, K., additional, Gouider, N., additional, M'Rad, S., additional, and Ben Dridi, M., additional

Published
2007
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49. Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia

Author

Elmahmoudi Hejer, Ben-lakhal Fatma, Elborji Wijden, Jlizi Asma, Zahra Kaouther, Sassi Rim, Zorgan Moez, Meddeb Balkis, Elgaaied Ben Ammar Amel, and Gouider Emna

Subjects
FVII deficiency, F7 gene, Mutations, Polymorphisms, Tunisia, Pathology, RB1-214
Abstract

Abstract Inherited factor VII (FVII) deficiency is a rare disorder characterized by a bleeding phenotype varying from mild to severe. To date, more than 200 mutations have been described along the F7 gene encoding for FVII. The aim of this study was the identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia. Mutation detection was performed by sequencing the whole F7 gene coding region, exon-intron boundaries and about 400 bp of the promoter region. We identified 5 mutations in five unrelated families; the novel p.F328Y mutation and the reported mutations: p.R304Q, p.M298I, IVS1aG > A and p.G-39G. For the remaining 5 patients we didn’t identified any mutations using PCR/Sequencing protocol. In conclusion, this study represents the first comprehensive molecular series of FVII deficiency affected patients in Tunisia from the North. We will try in the future to continue the molecular study for Tunisian patients from Center and South provinces in order to have a complete idea about the FVII deficiency mutational profile in our country. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1288044089753085

Published
2012
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50. First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations

Author

Elmahmoudi Hejer, Khodjet-el-khil Houssein, Wigren Edvard, Jlizi Asma, Zahra Kaouther, Pellechia Dorothé, Vinciguerra Christine, Meddeb Balkis, Elggaaied Amel Ben, and Gouider Emna

Subjects
Hemophilia A, Mutations, Intron 22 inversion, Intron 1 inversion, Inhibitors, Molecular analysis, Tunisia, Pathology, RB1-214
Abstract

Abstract Introduction Hemophilia A is an X linked recessive hemorrhagic disorder caused by mutations in the F8 gene that lead to qualitative and/or quantitative deficiencies of coagulation factor VIII (FVIII). Molecular diagnosis of hemophilia A is challenging because of the high number of different causative mutations that are distributed throughout the large F8 gene. Molecular studies of these mutations are essential in order to reinforce our understanding of their pathogenic effect responsible for the disorder. Aim In this study we have performed molecular analysis of 28 Tunisian hemophilia A patients and analyzed the F8 mutation spectrum. Methods We screened the presence of intron 22 and intron 1 inversion in severe hemophilia A patients by southern blotting and polymerase chain reaction (PCR). Detection of point mutations was performed by dHPLC/sequencing of the coding F8 gene region. We predict the potential functional consequences of novel missense mutations with bioinformatics approaches and mapping of their spatial positions on the available FVIII 3D structure. Results We identified 23 different mutations in 28 Tunisian hemophilia A patients belonging to 22 unrelated families. The identified mutations included 5 intron 22 inversions, 7 insertions, 4 deletions and 7 substitutions. In total 18 point mutations were identified, of which 9 are located in exon 14, the most mutated exonic sequence in the F8 gene. Among the 23 mutations, 8 are novel and not deposited in the HAMSTeRS database nor described in recently published articles. Conclusion The mutation spectrum of Tunisian hemophilia A patients is heterogeneous with the presence of some characteristic features. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1693269827490715

Published
2012
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