Bourbon M - Search Results

1

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.

Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Among authors: bourbon m. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free article.

2

The Hypocholesterolemic Potential of the Edible Algae Fucus vesiculosus: Proteomic and Quantitative PCR Analysis.

André R, Pacheco R, Alves AC, Santos HM, Bourbon M, Serralheiro ML. André R, et al. Among authors: bourbon m. Foods. 2023 Jul 20;12(14):2758. doi: 10.3390/foods12142758. Foods. 2023. PMID: 37509850 Free PMC article.

3

Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results.

Bourbon M, Rato Q; Investigadores do Estudo Português de Hipercolesterolemia Familiar. Bourbon M, et al. Rev Port Cardiol. 2006 Nov;25(11):999-1013. Rev Port Cardiol. 2006. PMID: 17274457 English, Portuguese.

4

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

Bourbon M, Duarte MA, Alves AC, Medeiros AM, Marques L, Soutar AK. Bourbon M, et al. J Med Genet. 2009 May;46(5):352-7. doi: 10.1136/jmg.2007.057000. J Med Genet. 2009. PMID: 19411563 Free article.

5

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

Benito-Vicente A, Alves AC, Etxebarria A, Medeiros AM, Martin C, Bourbon M. Benito-Vicente A, et al. Among authors: bourbon m. Genet Med. 2015 Dec;17(12):980-8. doi: 10.1038/gim.2015.14. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741862 Free article.

6

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

Medeiros AM, Alves AC, Bourbon M. Medeiros AM, et al. Among authors: bourbon m. Genet Med. 2016 Apr;18(4):316-24. doi: 10.1038/gim.2015.71. Epub 2015 May 28. Genet Med. 2016. PMID: 26020417 Free article.

7

Familial hypercholesterolaemia: A global call to arms.

Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R, Freiberger T, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Nilsson L, Nordestgaard BG, O'Donoghue JM, Sahebkar A, Schunkert H, Shehab A, Stoll M, Su TC, Susekov A, Widén E, Catapano AL, Ray KK. Vallejo-Vaz AJ, et al. Among authors: bourbon m. Atherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18. Atherosclerosis. 2015. PMID: 26408930 Free article. No abstract available.

8

Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.

Bourbon M, Alves AC, Sijbrands EJ. Bourbon M, et al. Curr Opin Lipidol. 2017 Apr;28(2):120-129. doi: 10.1097/MOL.0000000000000404. Curr Opin Lipidol. 2017. PMID: 28169869 Free article. Review.

9

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

Santos RD, Bourbon M, Alonso R, Cuevas A, Vasques-Cardenas NA, Pereira AC, Merchan A, Alves AC, Medeiros AM, Jannes CE, Krieger JE, Schreier L, Perez de Isla L, Magaña-Torres MT, Stoll M, Mata N, Dell Oca N, Corral P, Asenjo S, Bañares VG, Reyes X, Mata P; Ibero-American Familial Hypercholesterolemia Network. Santos RD, et al. Among authors: bourbon m. J Clin Lipidol. 2017 Jan-Feb;11(1):160-166. doi: 10.1016/j.jacl.2016.11.004. Epub 2016 Nov 23. J Clin Lipidol. 2017. PMID: 28391882

10

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

Chora JR, Alves AC, Medeiros AM, Mariano C, Lobarinhas G, Guerra A, Mansilha H, Cortez-Pinto H, Bourbon M. Chora JR, et al. Among authors: bourbon m. J Clin Lipidol. 2017 Mar-Apr;11(2):477-484.e2. doi: 10.1016/j.jacl.2016.11.002. Epub 2016 Nov 17. J Clin Lipidol. 2017. PMID: 28502505 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

102 results

Search Page