Search Results - "Ben Rekaya, M"
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Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia
Published in British journal of dermatology (1951) (01-02-2016)Get full text
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High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis
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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Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity
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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Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family
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
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
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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Maladies dermatologiques en Algérie
Published in Annales de dermatologie et de vénéréologie (01-12-2013)Get full text
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Le mélanome cutané en Tunisie : un cancer sous-estimé
Published in Annales de dermatologie et de vénéréologie (01-06-2014)Get full text
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Association xéroderma pigmentosum et anomalies thyroïdiennes : étude préliminaire
Published in Annales de dermatologie et de vénéréologie (01-12-2014)“…Le xeroderma pigmentosum (XP) désigne un ensemble hétérogène d’affections héréditaires, autosomiques récessives, rares, caractérisées par un défaut du système…”
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