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

102 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
Ghaleb Y, Elbitar S, Philippi A, El Khoury P, Azar Y, Andrianirina M, Loste A, Abou-Khalil Y, Nicolas G, Le Borgne M, Moulin P, Di-Filippo M, Charrière S, Farnier M, Yelnick C, Carreau V, Ferrières J, Lecerf JM, Derksen A, Bernard G, Gauthier MS, Coulombe B, Lütjohann D, Fin B, Boland A, Olaso R, Deleuze JF, Rabès JP, Boileau C, Abifadel M, Varret M. Ghaleb Y, et al. Among authors: coulombe b. Metabolites. 2022 Mar 18;12(3):262. doi: 10.3390/metabo12030262. Metabolites. 2022. PMID: 35323704 Free PMC article.
Increased subcutaneous adipose tissue expression of genes involved in glycerolipid-fatty acid cycling in obese insulin-resistant versus -sensitive individuals.
Gauthier MS, Pérusse JR, Lavoie MÈ, Sladek R, Madiraju SR, Ruderman NB, Coulombe B, Prentki M, Rabasa-Lhoret R. Gauthier MS, et al. Among authors: coulombe b. J Clin Endocrinol Metab. 2014 Dec;99(12):E2518-28. doi: 10.1210/jc.2014-1662. J Clin Endocrinol Metab. 2014. PMID: 25210878 Free PMC article.
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G. Mendes MI, et al. Among authors: coulombe b. Am J Hum Genet. 2018 Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22. Am J Hum Genet. 2018. PMID: 29576217 Free PMC article.
Posttranslational modification of proprotein convertase subtilisin/kexin type 9 is differentially regulated in response to distinct cardiometabolic treatments as revealed by targeted proteomics.
Gauthier MS, Awan Z, Bouchard A, Champagne J, Tessier S, Faubert D, Chabot K, Garneau PY, Rabasa-Lhoret R, Seidah NG, Ridker PM, Genest J, Coulombe B. Gauthier MS, et al. Among authors: coulombe b. J Clin Lipidol. 2018 Jul-Aug;12(4):1027-1038. doi: 10.1016/j.jacl.2018.03.092. Epub 2018 Apr 3. J Clin Lipidol. 2018. PMID: 29699916
How do our cells build their protein interactome?
Coulombe B, Cloutier P, Gauthier MS. Coulombe B, et al. Nat Commun. 2018 Jul 27;9(1):2955. doi: 10.1038/s41467-018-05448-2. Nat Commun. 2018. PMID: 30054485 Free PMC article.
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G. Djordjevic D, et al. Among authors: coulombe b. Am J Hum Genet. 2021 Jan 7;108(1):186-193. doi: 10.1016/j.ajhg.2020.12.002. Am J Hum Genet. 2021. PMID: 33417887 Free PMC article.
102 results