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25 results on '"Hammouda, Samia Ben"'

16. Spectre génétique de la dyskinésie ciliaire primitive en Tunisie et identification d'un allèle majeur Méditerranéen

Author

Mani, Rahma, Belkacem, Sabrina, Soua, Zohra, Chantot-Bastaraud, Sandra, Montantin, Guy, Tissier, Sylvie, Copin, Bruno, Bouguila, Jihene, Rive Le Gouard, Nicolas, Boughamoura, Lamia, Ben Ameur, Salma, Hachicha, Mongia, Boussoffara, Raoudha, Boussetta, Khadija, Hammouda, Samia Ben, Bedoui, Abir, Besbes, Habib, Meddeb, Seif, Chraeit, Karima, Khlifa, Monia, Escudier, Estelle, Amselem, Serge, Mabrouk, Imed, Legendre, Marie, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Faculté de médecine de Sousse [Ibn EL Jazzar], UF de Génétique chromosomique [CHU Trousseau], and Couvet, Sandrine

Subjects
[SDV] Life Sciences [q-bio], CCDC39, founder effect, Kartagener syndrome, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV]Life Sciences [q-bio], cilia, primary ciliary dyskinesia, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract
Abstract

National audience; Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Forty clinically diagnosed patients with PCD belonging to 34 families were recruited from Tunisian pediatric departments. In each proband, targeted capture PCD panel sequencing of the 40 PCD genes was performed. PCD panel sequencing identified bi-allelic mutations in 82% of the families in eight PCD genes. Remarkably, 23.5% of patients carried the same c.2190del CCDC39 mutation. Single nucleotide polymorphism profiling in six unrelated patients carrying this mutation has revealed a founder effect in North-African patients. This mutation is estimated to date back at least 1,400-1,750 years ago. The identification of this major allele allowed us to suggest a cost-effective genetic diagnostic strategy in North-African patients with PCD.

Published
2020

18. Diagnostic moléculaire de la dyskinésie ciliaire primitive dans une cohorte tunisienne : identification d’un allèle majeur

Author

Mani, Rahma, Mabrouk, Imed, Copin, Bruno, Dastot - Le Moal, Florence, Montantin, Guy, Tissier, Sylvie, Bouguila, Jihene, Boughamoura, Lamia, Ben Ameur, Salma, Hachicha, Mongia, Boussetta, Khadija, Boussoffara, Raoudha, Hammouda, Samia Ben, Bedoui, Abir, Besbes, Habib, Meddeb, Seif, Escudier, Estelle, Amselem, Serge, Soua, Zohra, Legendre, Marie, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Faculté de médecine de Sousse [Ibn EL Jazzar], and Couvet, Sandrine

Subjects
[SDV] Life Sciences [q-bio], CCDC39, founder effect, Kartagener syndrome, Primary ciliary dyskinesia, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV]Life Sciences [q-bio], [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Cilia, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract
Abstract

National audience; Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Forty clinically diagnosed patients with PCD belonging to 34 families were recruited from Tunisian pediatric departments. In each proband, targeted capture PCD panel sequencing of the 40 PCD genes was performed. PCD panel sequencing identified bi-allelic mutations in 82% of the families in eight PCD genes. Remarkably, 23.5% of patients carried the same c.2190del CCDC39 mutation. Single nucleotide polymorphism profiling in six unrelated patients carrying this mutation has revealed a founder effect in North-African patients. This mutation is estimated to date back at least 1,400-1,750 years ago. The identification of this major allele allowed us to suggest a cost-effective genetic diagnostic strategy in North-African patients with PCD.

Published
2018

19. N- and O- ligand doped mesoporous silica-chitosan hybrid beads for the efficient, sustainable and selective recovery of rare earth elements (REE) from acid mine drainage (AMD): Understanding the significance of physical modification and conditioning of the polymer

Author

Ramasamy, Deepika Lakshmi, Puhakka, Ville, Iftekhar, Sidra, Wojtuś, Anna, Repo, Eveliina, Hammouda, Samia Ben, Iakovleva, Evgenia, Sillanpää, Mika, Ramasamy, Deepika Lakshmi, Puhakka, Ville, Iftekhar, Sidra, Wojtuś, Anna, Repo, Eveliina, Hammouda, Samia Ben, Iakovleva, Evgenia, and Sillanpää, Mika

Abstract

info:eu-repo/semantics/published

Published
2018

21. Amplified Spontaneous Emission and Random Lasing in MAPbBr3 Halide Perovskite Single Crystals.

Author

Murzin, Aleksei O., Stroganov, Boris V., Günnemann, Carsten, Hammouda, Samia Ben, Shurukhina, Anna V., Lozhkin, Maxim S., Emeline, Alexei V., and Kapitonov, Yury V.

Subjects
SINGLE crystals, CRYSTAL defects, STIMULATED emission, PEROVSKITE, HALIDES, RESONATORS
Abstract

Halide perovskites are a promising optical gain medium with high tunability and simple solution synthesis. In this study, two gain regimes, namely, amplified spontaneous emission and random lasing, are demonstrated in the same MAPbBr3 halide perovskite single crystal. For this, photoluminescence is measured at a temperature of 4 K with pulsed femtosecond pumping by UV light with an 80 MHz repetition rate. Random lasing is observed in areas of the sample where a random resonator is formed due to cracks and crystal imperfections. In more homogeneous regions of the sample, the dominant regime is amplified spontaneous emission. These two regimes are reliably distinguished by the line width, the mode structure, the growth of the intensity after the threshold, and the degree of polarization of the radiation. The spectral localization of the stimulated emission well below the bound exciton resonance raises a question concerning the origin of the emission in halide perovskite lasers. [ABSTRACT FROM AUTHOR]

Published
2020
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22. Degradation and mineralization of phenol in aqueous medium by heterogeneous monopersulfate activation on nanostructured cobalt based-perovskite catalysts ACoO 3 (A = La, Ba, Sr and Ce): Characterization, kinetics and mechanism study

Author

Hammouda, Samia Ben, Zhao, Feiping, Safaei, Zahra, Srivastava, Varsha, Ramasamy, Deepika Lakshmi, Iftekhar, Sidra, Kalliola, Simo, Sillanpää, Mika, Hammouda, Samia Ben, Zhao, Feiping, Safaei, Zahra, Srivastava, Varsha, Ramasamy, Deepika Lakshmi, Iftekhar, Sidra, Kalliola, Simo, and Sillanpää, Mika

Abstract

info:eu-repo/semantics/published

Published
2017

24. Degradation and mineralization of phenol in aqueous medium by heterogeneous monopersulfate activation on nanostructured cobalt based-perovskite catalysts ACoO 3 (A = La, Ba, Sr and Ce): Characterization, kinetics and mechanism study

Author

Hammouda, Samia Ben, primary, Zhao, Feiping, additional, Safaei, Zahra, additional, Srivastava, Varsha, additional, Lakshmi Ramasamy, Deepika, additional, Iftekhar, Sidra, additional, kalliola, Simo, additional, and Sillanpää, Mika, additional

Published
2017
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