Zobrazeno 1 - 5 of 5 pro vyhledávání: '"Lamia Sfaihi Ben Mansour"'
1
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene
Autor: Emna Mkaouar-Rebai, Faiza Fakhfakh, Marwa Ammar, Olfa Alila-Fersi, Mongia Hachicha, Rahma Felhi, Mouna Tabebi, Lamia Sfaihi-Ben Mansour, Leila Keskes, Bochra Ben Rhouma
Publikováno v: Biochemical and Biophysical Research Communications. 473:61-66
Mitochondrial diseases encompass a wide variety of pathologies characterized by a dysfunction of the mitochondrial respiratory chain resulting in an energy deficiency. The respiratory chain consists of five multi-protein complexes providing coupling
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b36fc40f1af7624f605b5c866ff1d4a2
https://doi.org/10.1016/j.bbrc.2016.03.050
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3
Clinical, Immunological and Genetic Findings of a Large Tunisian Series of Major Histocompatibility Complex Class II Deficiency Patients
Autor: Monia Khemiri, Mohamed Bejaoui, Khaoula Ben-Farhat, J. Bouguila, Naouel Guirat-Dhouib, Mohamed-Ridha Barbouche, Meriem Ben-Ali, Lamia Sfaihi Ben-Mansour, Beya Larguèche, Imen Ben-Mustapha, Fethi Mellouli, Jalel Chemli, Emna Dhemaied
Publikováno v: Journal of Clinical Immunology. 33:865-870
Major histocompatibility complex class II (MHC-II) expression deficiency is a combined primary immunodeficiency leading to the impairment of the cellular and humoral immune responses. A majority of affected patients belong to consanguineous families
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::217e08ca055c334d6d99470721f83a1a
https://doi.org/10.1007/s10875-013-9863-8
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4
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
Autor: Alessandra Pangrazio, Paolo Vezzoni, Cristina Sobacchi, Parag M Tamhankar, Clarisse Baumann, Daniela Melis, Edoardo Lanino, Kim Vettenranta, Michael Pusch, Elena Caldana, Edwin M. Horwitz, Franco Locatelli, Annalisa Frattini, Lamia Sfaihi Ben Mansour, Ilhan Tezcan, Ivo Bariae, Anna Villa, Mario Abinun, Paul J. Orchard, Marco Zecca, Antonio González-Meneses López, Michael Wright, Shubha R. Phadke, Ercan Mihci, Mirjam H.H. van Roij
Publikováno v: Human Mutation, 31(1), E1071-E1080. Wiley-Liss Inc.
Human mutation 31 (2010): E1071–E1080. doi:10.1002/humu.21167
info:cnr-pdr/source/autori:Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Vil/titolo:Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations/doi:10.1002%2Fhumu.21167/rivista:Human mutation/anno:2010/pagina_da:E1071/pagina_a:E1080/intervallo_pagine:E1071–E1080/volume:31
Pangrazio, A, Pusch, M, Caldana, E, Frattini, A, Lanino, E, Tamhankar, P M, Phadke, S, Lopez, A G M, Orchard, P, Mihci, E, Abinun, M, Wright, M, Vettenranta, K, Bariae, I, Melis, D, Tezcan, I, Baumann, C, Locatelli, F, Zecca, M, Horwitz, E, Ben Mansour, L S, van Roij, M H H, Vezzoni, P, Villa, A & Sobacchi, C 2010, ' Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations ', Human Mutation, vol. 31, no. 1, pp. E1071-E1080 . https://doi.org/10.1002/humu.21167
The "Osteopetroses" are genetic diseases whose clinical picture is caused by a defect in bone resorption by osteoclasts. Three main forms can be distinguished on the basis of severity, age of onset and means of inheritance: the dominant benign, the i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a394fe28a3360c3172b44852aeef37
https://doi.org/10.1002/humu.21167
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5
Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes
Autor: Cécile, Martel, Michelle, Mollin, Sylvain, Beaumel, Jean Paul, Brion, Charles, Coutton, Véronique, Satre, Gaëlle, Vieville, Mary, Callanan, Christine, Lefebvre, Alexandra, Salmon, Anne, Pagnier, Dominique, Plantaz, Cécile, Bost-Bru, Laurence, Eitenschenck, Isabelle, Durieu, Daniel, Floret, Claire, Galambrun, Hervé, Chambost, Gérard, Michel, Jean-Louis, Stephan, Olivier, Hermine, Stéphane, Blanche, Nathalie, Blot, Hervé, Rubié, Guillaume, Pouessel, Stephanie, Drillon-Haus, Bernard, Conrad, Klara M, Posfay-Barbe, Zuzana, Havlicekova, Tamara, Voskresenky-Baricic, Kelecic, Jadranka, Maria Cristina, Arriazu, Luis Alberto, Garcia, Lamia, Sfaihi, Lamia Sfaihi Ben, Mansour, Pierre, Bordigoni, Marie José, Stasia
Publikováno v: Journal of Clinical Immunology, Vol. 32, No 5 (2012) pp. 942-58
Journal of Clinical Immunology
Journal of Clinical Immunology, Springer Verlag, 2012, 32 (5), pp.942-58. ⟨10.1007/s10875-012-9698-8⟩
Journal of Clinical Immunology, Springer Verlag, 2012, 32 (5), pp.942-58. 〈10.1007/s10875-012-9698-8〉
International audience; Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and cannot produce superoxide anions. The most common form is caused by mutations in CYBB encoding gp91phox. We investi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af4c7f99fc92140fce0715edcc28be6
https://archive-ouverte.unige.ch/unige:31691
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