Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Autor: Rahma Mkaouar, Zied Riahi, Cherine Charfeddine, Imen Chelly, Hela Boudabbous, Hamza Dallali, Crystel Bonnet, Meriem Hechmi, Soumeya Bekri, Nadia Zitouna, Lotfi Zekri, Amel Tounsi, Rym Kefi, Jihene Marrakchi, Olfa Messaoud, Ichraf Kraoua, Sonia Maalej, Ilhem Turki Ben Youssef, Ahlem Ben Hmid, Fabrice Giraudet, Sami Bouchoucha, Neji Tebib, Ghazi Besbes, Christine Petit, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi

Publikováno v: PLoS ONE, Vol 16, Iss 10, p e0258202 (2021)

Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic featur

Externí odkaz: https://doaj.org/article/569f864a04af411d83938661f5680131

Evolutionary and demographic history among Maghrebian Medicago species (Fabaceae) based on the nucleotide sequences of the chloroplast DNA barcode trnH-psbA

Autor: Nadia, Zitouna, Maroua, Gharbi, Hela, Ben Rhouma, Houda, Chennaoui-Kourda, Abdelmajid, Haddioui, Neila, Trifi-Farah, Sonia, Marghali

Publikováno v: In Biochemical Systematics and Ecology August 2014 55:296-304

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Autor: Sonia Abdelhak, Ridha Mrad, Nessrine Mezzi, Yosr Hamdi, Cherine Charfeddine, Lilia Romdhane, Safa Romdhane, Nadia Zitouna, Olfa Messaoud, Faouzi Maazoul, Ines Ouerteni, Anissa Zaouak, Ghaith Abdessalem, Rahma Mkaouar

Publikováno v: Genes, Vol 12, Iss 1820, p 1820 (2021)
Genes
Volume 12
Issue 11

Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99000a97d4bf6978221227b5f1f0a931
https://www.mdpi.com/2073-4425/12/11/1820

Morphology and Genetic Studies of Cymodocea Seagrass Genus in Tunisian Coasts

Autor: Didier Aurelle, Nadia Zitouna, Aslam Sami Djellouli, Ramzi Bchir, Habib Langar, Gérard Pergent, Christine Pergent-Martini

Publikováno v: Phyton, International Journal of Experimental Botany
Phyton, International Journal of Experimental Botany, Tech Science Press, 2019, 88 (2), pp.171-184. ⟨10.32604/phyton.2019.05261⟩
Phyton, International Journal of Experimental Botany, 2019, 88 (2), pp.171-184. ⟨10.32604/phyton.2019.05261⟩

The presence along the Tunisian coasts of different morphological and anatomical Cymodocea specimens suggest the presence of different species while the Mediterranean is threatened by the introduction of a great number of aliens. So, in order to surv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fda9b22684077849c3d0b560bd5e5ed4
https://hal.archives-ouvertes.fr/hal-02164658

The evolution of rbcL: A methodology to follow the evolution patterns of Medicago and Sulla (Fabaceae) genera

Autor: Sonia Marghali, Asma Touati, Abdelmajid Haddioui, Nadia Zitouna, Hela Ben Rhouma, Maroua Gharbi, Neila Trifi-Farah

Publikováno v: Biochemical Systematics and Ecology. 57:33-39

The chloroplast rbcL gene is selected to be a standard barcode for the phylogenetic analyses of several land plants. Using universal primers pair, the 3’ frame was used to assess the phylogeny of the two Legume genera Medicago and Sulla and the evo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::09d30909016e38d051f99a7ccf2e1c27
https://doi.org/10.1016/j.bse.2014.07.018