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Documents publiés par "Bchetnia, Mbarka"

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Nombre de documents : 15.

Bchetnia Mbarka, Martineau Laurie, Racine Véronique, Powell Julie, McCuaig Catherine, Morin Charles, Dupérée Audrey, Gros-Louis François et Laprise Catherine. (2022). Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations. Stem Cell Research, 60, e102726.

Bchetnia Mbarka, Martineau Laurie, Racine Véronique, Powell Julie, McCuaig Catherine, Morin Charles, Dupérée Audrey, Gros-Louis François et Laprise Catherine. (2022). Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations. Stem Cell Research, 61, e102750.

Bchetnia Mbarka, Tardif Jessica, Morin Charles et Laprise Catherine. (2022). Expression signature of the Leigh syndrome French-Canadian type. Molecular Genetics and Metabolism Reports, 30, e100847.

Bchetnia Mbarka, Bouchard Luigi, Mathieu Jean, Campeau Philippe M, Morin Charles, Brisson Diane, Laberge Anne-Marie, Vézina Hélène, Gaudet Daniel et Laprise Catherine. (2021). Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability. Journal of Medical Genetics, 58, (10), p. 653-665.

Bchetnia Mbarka, Allard Jean‐Pascal, Boucher‐Lafleur Anne‐Marie, Cruz Marino Tania, Dupéré Audrey, Powell Julie, McCuaig Catherine, Bernier Marie‐Ève et Laprise Catherine. (2020). Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5. Experimental Dermatology, 29, (10), p. 961-969.

Bchetnia Mbarka, Girard Catherine, Duchaine Caroline et Laprise Catherine. (2020). The outbreak of the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2): a review of the current global status. Journal of Infection and Public Health, 13, (11), p. 1601-1610.

Bchetnia Mbarka, Martineau Laurie, Racine Véronique, Powell Julie, McCuaig Catherine, Puymirat Jack et Laprise Catherine. (2020). Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene. Stem Cell Research, 44, p. 101748.

Ben Brick A.S., Laroussi N., Mesrati Hela, Kefi R., Ouragini Houyem, Bchetnia Mbarka, Romdhane L., Marrakchi Salaheddine, Boubaker M.S., Castiglia D., Hovnanian A., Abdelhak S., Turki H. et Kharfi M.. (2016). Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations. Journal of the European Academy of Dermatology and Venereology, 30, (1), p. 155-157.

Charfeddine C., Ktaifi C., Laroussi N., Hammami H., Jmel H., Landoulsi Z., Badri T., Benmously R., Bchetnia Mbarka, Boubaker M.S., Fenniche S., Abdelhak S. et Mokni Mourad. (2016). Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families. Journal of the European Academy of Dermatology and Venereology, 30, (12), p. 2122-2130.

Bchetnia Mbarka, Bozgia Mariam, Laroussi Nadia, Ben Brick Ahlem Sabrine, Charfeddine Cherine, Ben Halim Nizar, Mokni Mourad, Boubaker Mohamed Samir et Abdelhak Sonia. (2015). The first Mal de Meleda case in Libya: identification of a SLURP1 mutation. International Journal of Dermatology, 54, (12), p. 1426-1428.

Bchetnia Mbarka, Lacroix Jacynthe, Farez Tarik, Larouche Miriam, Powell Julie, McCuaig Catherine, Dupéré Audrey, Morin Charles, Legendre-Guillemin Valérie et Laprise Catherine. (2015). Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. Experimental Dermatology, 25, (3), p. 229-230.

Bchetnia Mbarka, Lacroix Jacynthe, Farez Tarik, Larouche Miriam, Powell Julie, McCuaig Catherine, Dupéré Audrey, Morin Charles, Legendre-Guillemin Valérie et Laprise Catherine. (2015). Reduction of keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. Experimental dermatology, 25, (3), p. 229-230.

Ben Brick Ahlem Sabrine, Laroussi Nadia, Mesrati Hela, Kefi Rym, Bchetnia Mbarka, Lasram Khaled, Ben Halim Nizar, Romdhane Lilia, Ouragini Houyem, Marrakchi Salaheddine, Boubaker Mohamed Samir, Meddeb Cherif Mounira, Castiglia Daniele, Hovnanian Alain, Abdelhak Sonia et Turki Hamida. (2014). Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia. Archives of Dermatological Research, 306, p. 405-411.

Bchetnia Mbarka, Farez Tarik, Lacroix Jacynthe, Leclerc Georgette, Powell Julie, McCuaig Catherine, Legendre-Guillemin Valérie, Dupérée Audrey, Morin Charles et Laprise Catherine. (2013). Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. Journal of Dermatological Science, 69, (1), p. 80-82.

Bchetnia Mbarka, Laroussi Nadia, Youssef Monia, Charfeddine Cherine, Ben Brick Ahlem Sabrine, Boubaker Mohamed Samir, Mokni Mourad, Abdelhak Sonia, Zili Jameleddine et Benmously Rym. (2013). Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region. BioMed Research International, 2013, e206803.

Cette liste a été générée le Thu Mar 28 02:41:11 2024 EDT.

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