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Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L, Aissat A, Badaoui B, Sakka M, Gameiro C, Ortonne V, Wagner-Ballon O, Pissard S, Picard V, Ghazal K, Bahuau M, Guitton C, Mansour Z, Duplan M, Petit A, Costedoat-Chalumeau N, Michel M, Bartolucci P, Moutereau S, Funalot B, Galactéros F. Mansour-Hendili L, et al. Among authors: bahuau m. Orphanet J Rare Dis. 2020 Jul 8;15(1):180. doi: 10.1186/s13023-020-01425-5. Orphanet J Rare Dis. 2020. PMID: 32641076 Free PMC article.
Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.
Moradkhani K, Mekki C, Bahuau M, Te VL, Holder M, Pissard S, Préhu C, Rose C, Wajcman H, Galactéros F. Moradkhani K, et al. Among authors: bahuau m. Am J Hematol. 2012 Feb;87(2):208-10. doi: 10.1002/ajh.22218. Epub 2011 Dec 3. Am J Hematol. 2012. PMID: 22139979 Free article.
Chronic hemolytic anemia due to novel alpha-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect.
Préhu C, Moradkhani K, Riou J, Bahuau M, Launay P, Martin N, Wajcman H, Goossens M, Galactéros F. Préhu C, et al. Among authors: bahuau m. Haematologica. 2009 Nov;94(11):1624-5. doi: 10.3324/haematol.2009.012971. Epub 2009 Oct 8. Haematologica. 2009. PMID: 19815833 Free PMC article. No abstract available.
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.
Mamoune A, Bahuau M, Hamel Y, Serre V, Pelosi M, Habarou F, Nguyen Morel MA, Boisson B, Vergnaud S, Viou MT, Nonnenmacher L, Piraud M, Nusbaum P, Vamecq J, Romero N, Ottolenghi C, Casanova JL, de Lonlay P. Mamoune A, et al. Among authors: bahuau m. PLoS Genet. 2014 Nov 13;10(11):e1004711. doi: 10.1371/journal.pgen.1004711. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25392908 Free PMC article.
Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.
Tredano M, Griese M, de Blic J, Lorant T, Houdayer C, Schumacher S, Cartault F, Capron F, Boccon-Gibod L, Lacaze-Masmonteil T, Renolleau S, Delaisi B, Elion J, Couderc R, Bahuau M. Tredano M, et al. Among authors: bahuau m. Am J Med Genet A. 2003 Jun 15;119A(3):324-39. doi: 10.1002/ajmg.a.20058. Am J Med Genet A. 2003. PMID: 12784301
Neonatal screening for sickle cell disease in France.
Bardakdjian-Michau J, Bahuau M, Hurtrel D, Godart C, Riou J, Mathis M, Goossens M, Badens C, Ducrocq R, Elion J, Perini JM. Bardakdjian-Michau J, et al. Among authors: bahuau m. J Clin Pathol. 2009 Jan;62(1):31-3. doi: 10.1136/jcp.2008.058867. J Clin Pathol. 2009. PMID: 19103855
44 results