Browsing by Author "Nagara, Majdi"
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Article
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance
Nagara, Majdi; Papagregoriou, Gregory; Ben Abdallah, Rim; Landoulsi, Zied; Bouyacoub, Yosra; Elouej, Sahar; Kefi, Rym; Pippucci, Tommaso; Voskarides, Konstantinos; Bashamboo, Anu; McElreavey, Kenneth; Hachicha, Mongia; Romeo, Giovanni; Seri, Marco; Deltas, Constantinos; Abdelhak, Sonia (2018)Aim of the study Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations ...
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Article
Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations
Nagara, Majdi; Voskarides, Konstantinos; Nouira, S.; Ben Halim, N.; Kefi Ben Atig, Rym; Aloulou, Hajer; Romdhane, L.; Ben Abdallah, R.; Ben Rhouma, F.; Aissa, K.; Boughamoura, L.; Kammoun, T.; Azzouz, H.; Abroug, S.; Ben Turkia, H.; Ayadi, A.; Mrad, R.; Chabchoub, I.; Hachicha, M.; Chemli, J.; Constantinou-Deltas, Constantinos D.; Abdelhak, S. (2014)BACKGROUND: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant ...
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Article
A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family
Nagara, Majdi; Voskarides, Konstantinos; Elouej, S.; Zaravinos, Apostolos; Riahi, Zied; Papagregoriou, Gregory N.; Kefi Ben Atig, Rym; Boussetta, Khadija; Constantinou-Deltas, Constantinos D.; Abdelhak, S.; Tinsa, Faten (2015)