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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
1988 2
1993 1
1995 1
1996 4
1997 5
1998 3
2000 1
2001 1
2004 1
2006 2
2007 1
2008 1
2009 1
2010 2
2011 2
2013 1
2014 3
2015 3
2016 2
2017 3
2018 6
2019 2
2020 6
2021 8
2022 9
2023 6
2024 0

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66 results

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Page 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: jannes ce. 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.
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB, Oliveira VF, Dagli-Hernandez C, Ferreira GM, Barbosa TKAA, da Silva Rodrigues Marçal E, Los B, Malaquias VB, Bortolin RH, Freitas RCC, Mori AA, Bastos GM, Gonçalves RM, Araújo DB, Zatz H, Bertolami A, Faludi AA, Bertolami MC, de Moraes Rego Souza AG, França JÍD, Thurow HS, Hirata TDC, Nakaya HTI, Jannes CE, da Costa Pereira A, Silbiger VN, Luchessi AD, Araújo JNG, Nakazone MA, Carmo TS, Souza DRS, Moriel P, Wang JYT, Naslavsky MS, Gorjão R, Pithon-Curi TC, Curi R, Fajardo CM, Wang HL, Garófalo AR, Cerda A, Sampaio MF, Hirata RDC, Hirata MH. Borges JB, et al. Among authors: jannes ce. Gene. 2023 Jul 30;875:147501. doi: 10.1016/j.gene.2023.147501. Epub 2023 May 20. Gene. 2023. PMID: 37217153
Familial hypercholesterolemia and cardiovascular disease in older individuals.
Coutinho ER, Miname MH, Rocha VZ, Bittencourt MS, Jannes CE, Tada MT, Lima IR, Filho WS, Chacra AP, Pereira AC, Krieger JE, Santos RD. Coutinho ER, et al. Among authors: jannes ce. Atherosclerosis. 2021 Feb;318:32-37. doi: 10.1016/j.atherosclerosis.2020.12.012. Epub 2020 Dec 19. Atherosclerosis. 2021. PMID: 33450476
Cardiovascular disease onset in old people with severe hypercholesterolemia.
Coutinho ER, Miname MH, Rocha VZ, Bittencourt MS, Jannes CE, Krieger JE, Pereira AC, Santos RD. Coutinho ER, et al. Among authors: jannes ce. Atherosclerosis. 2023 Jan;365:9-14. doi: 10.1016/j.atherosclerosis.2022.12.007. Epub 2022 Dec 23. Atherosclerosis. 2023. PMID: 36646017
ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O'Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW; ClinGen FH Variant Curation Expert Panel. Iacocca MA, et al. Among authors: jannes ce. Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634. Hum Mutat. 2018. PMID: 30311388 Free PMC article.
Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study.
Pereira AC, Bes TM, Velho M, Marques E, Jannes CE, Valino KR, Dinardo CL, Costa SF, Duarte AJS, Santos AR, Mitne-Neto M, Medina-Pestana J, Krieger JE. Pereira AC, et al. Among authors: jannes ce. Hum Mol Genet. 2022 Sep 10;31(18):3021-3031. doi: 10.1093/hmg/ddac045. Hum Mol Genet. 2022. PMID: 35368071
Adherence to a Mediterranean diet, dyslipidemia and inflammation in familial hypercholesterolemia.
Antoniazzi L, Arroyo-Olivares R, Bittencourt MS, Tada MT, Lima I, Jannes CE, Krieger JE, Pereira AC, Quintana-Navarro G, Muñiz-Grijalvo O, Díaz-Díaz JL, Alonso R, Mata P, Santos RD. Antoniazzi L, et al. Among authors: jannes ce. Nutr Metab Cardiovasc Dis. 2021 Jun 30;31(7):2014-2022. doi: 10.1016/j.numecd.2021.04.006. Epub 2021 Apr 19. Nutr Metab Cardiovasc Dis. 2021. PMID: 34039501
Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021.
Izar MCO, Giraldez VZR, Bertolami A, Santos Filho RDD, Lottenberg AM, Assad MHV, Saraiva JFK, Chacra APM, Martinez TLR, Bahia LR, Fonseca FAH, Faludi AA, Sposito AC, Chagas ACP, Jannes CE, Amaral CK, Araújo DB, Cintra DE, Coutinho EDR, Cesena F, Xavier HT, Mota ICP, Giuliano ICB, Faria Neto JR, Kato JT, Bertolami MC, Miname MH, Castelo MHCG, Lavrador MSF, Machado RM, Souza PG, Alves RJ, Machado VA, Salgado Filho W. Izar MCO, et al. Among authors: jannes ce. Arq Bras Cardiol. 2021 Oct;117(4):782-844. doi: 10.36660/abc.20210788. Arq Bras Cardiol. 2021. PMID: 34709306 Free PMC article. English, Portuguese. No abstract available.
66 results