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Page 1
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z, Jambou M, Rio M, Bole-Feysot C, de Lonlay P, Barnerias C, Desguerre I, Bonnemains C, Guillermet C, Steffann J, Munnich A, Bonnefont JP, Rötig A, Lebre AS. Assouline Z, et al. Among authors: jambou m. Biochim Biophys Acta. 2012 Jun;1822(6):1062-9. doi: 10.1016/j.bbadis.2012.01.013. Epub 2012 Feb 3. Biochim Biophys Acta. 2012. PMID: 22326555 Free article.
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Cluzeau C, et al. Among authors: jambou m. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384. Hum Mutat. 2011. PMID: 20979233
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. Pelletier V, et al. Among authors: jambou m. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. Hum Mutat. 2007. PMID: 16969763
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
Geneviève D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, Boustani-Samara D, Pinto G, Ozilou C, Abeguilé G, Munnich A, Romana S, Raoul O, Cormier-Daire V, Vekemans M. Geneviève D, et al. Among authors: jambou m. Eur J Hum Genet. 2005 Sep;13(9):1033-9. doi: 10.1038/sj.ejhg.5201448. Eur J Hum Genet. 2005. PMID: 15915160
Effective Anti-SARS-CoV-2 Immune Response in Patients With Clonal Mast Cell Disorders.
Rossignol J, Ouedrani A, Livideanu CB, Barete S, Terriou L, Launay D, Lemal R, Greco C, Frenzel L, Meni C, Bodemere-Skandalis C, Polivka L, Collange AF, Hachichi H, Bouzourine S, Messaoud DN, Negretto M, Vendrame L, Jambou M, Gousseff M, Durupt S, Lega JC, Durand JM, Gaudy C, Damaj G, Gourin MP, Hamidou M, Bouillet L, Le Mouel E, Maria A, Zunic P, Cabrera Q, Vincent D, Lavigne C, Riviere E, Gourguechon C, Courbebaisse M, Lebeaux D, Parfait B, Friedlander G, Brignier A, Lhermitte L, Molina TJ, Bruneau J, Agopian J, Dubreuil P, Ranta D, Mania A, Arock M, Staropoli I, Tournilhac O, Lortholary O, Schwartz O, Chatenoud L, Hermine O. Rossignol J, et al. Among authors: jambou m. J Allergy Clin Immunol Pract. 2022 May;10(5):1356-1364.e2. doi: 10.1016/j.jaip.2021.12.038. Epub 2022 Jan 21. J Allergy Clin Immunol Pract. 2022. PMID: 35074600 Free PMC article.
11 results