Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

44 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
MSH3: a confirmed predisposing gene for adenomatous polyposis.
Villy MC, Masliah-Planchon J, Schnitzler A, Delhomelle H, Buecher B, Filser M, Merchadou K, Golmard L, Melaabi S, Vacher S, Blanluet M, Suybeng V, Corsini C, Dhooge M, Hamzaoui N, Farelly S, Ait Omar A, Benamouzig R, Caumette V, Bahuau M, Cucherousset J, Allory Y, Stoppa-Lyonnet D, Bieche I, Colas C. Villy MC, et al. Among authors: bahuau m. J Med Genet. 2023 Nov 27;60(12):1198-1205. doi: 10.1136/jmg-2023-109341. J Med Genet. 2023. PMID: 37402566
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S. Boulouard F, et al. Among authors: bahuau m. Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12. Clin Genet. 2021. PMID: 33454955
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.
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.
[Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)].
Drouet A, Zagnoli F, Fassier T, Rannou F, Baverel F, Piraud M, Bahuau M, Petit F, Streichenberger N, Marcorelles P, Vital Durand D. Drouet A, et al. Among authors: bahuau m. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):613-24. doi: 10.1016/j.neurol.2013.02.006. Epub 2013 Sep 4. Rev Neurol (Paris). 2013. PMID: 24011984 French.
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.
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