Search Results - "Ben Rekaya, M"

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    High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis by Ben Rekaya, M, Messaoud, O, Talmoudi, F, Nouira, S, Ouragini, H, Amouri, A, Boussen, H, Boubaker, S, Mokni, M, Mokthar, I, Abdelhak, S, Zghal, M

    Published in Journal of human genetics (01-07-2009)
    “…Xeroderma pigmentosum (XP, OMIM 278700-278780) is a group of autosomal recessive diseases characterized by hypersensitivity to UV rays. There are seven…”
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    Journal Article
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    Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity by Messaoud, O., Ben Rekaya, M., Ouragini, H., Benfadhel, S., Azaiez, H., Kefi, R., Gouider-Khouja, N., Mokhtar, I., Amouri, A., Boubaker, M. S., Zghal, M., Abdelhak, S.

    Published in Archives of Dermatological Research (01-03-2012)
    “…Xeroderma pigmentosum (XP) is a rare disorder characterized by a high skin sun-sensitivity predisposing to skin cancers at an early age. Among Tunisian XP…”
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    Journal Article
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    Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family by Messaoud, O., Ben Rekaya, M., Kefi, R., Chebel, S., Boughammoura‐Bouatay, A., Bel Hadj Ali, H., Gouider‐Khouja, N., Zili, J., Frih‐Ayed, M., Mokhtar, I., Abdelhak, S., Zghal, M.

    Published in British journal of dermatology (1951) (01-04-2010)
    “…Summary Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A…”
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    The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum by Messaoud, O, Ben Rekaya, M, Jerbi, M, Ouertani, I, Kefi, R, Laroussi, N, Bouyacoub, Y, Benfadhel, S, Yacoub-Youssef, H, Boubaker, S, Zghal, M, Mrad, R, Amouri, A, Abdelhak, S

    Published in Public health genomics (01-01-2013)
    “…Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy…”
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    Cytogenetic assessment of Fanconi anemia in children with aplastic anemia in Tunisia by Talmoudi, Faten, Kammoun, Lobna, Benhalim, Nizar, Torjemane, Lamia, Ouederni, Monia, Aissaoui, Lamia, Lakhal, Amel, Mellouli, Fethi, Othmen, Tarek B, Bejaoui, Mohamed, Abdelhak, Sonia, Meddeb, Mounira, Dellagi, Koussay, Hdiji, Sondes, Amouri, Ahlem

    Published in Journal of pediatric hematology/oncology (01-10-2013)
    “…Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for Fanconi anemia (FA) diagnosis. The aim of the present study was to…”
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    Association xéroderma pigmentosum et anomalies thyroïdiennes : étude préliminaire by Jones, M., Nakouri, I., Zghal, M., Koubaa, W., Ben Brahim, I., Chedly-Debbiche, A., Mbarek, C., Jerbi, M., Ben Rekaya, M., Massoud, O., Yaacoub, H., Abdelhak, S., Khaled, A., Fazaa, B.

    “…Le xeroderma pigmentosum (XP) désigne un ensemble hétérogène d’affections héréditaires, autosomiques récessives, rares, caractérisées par un défaut du système…”
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