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Items: 1 to 20 of 164

1.

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.

Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, Arnaud P.

Clin Genet. 2020 Jan 2. doi: 10.1111/cge.13700. [Epub ahead of print]

PMID:
31898322
2.

Patients with High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit from Alirocumab Treatment in the Odyssey Outcomes Trial.

Damask A, Steg PG, Schwartz GG, Szarek M, Hagström E, Badimon L, Chapman MJ, Boileau C, Tsimikas S, Ginsberg HN, Banerjee P, Manvelian G, Pordy R, Hess S, Overton JD, Lotta LA, Yancopoulos GD, Abecasis GR, Baras A, Paulding C; Regeneron Genetics Center and the ODYSSEY OUTCOMES Investigators.

Circulation. 2019 Nov 11. doi: 10.1161/CIRCULATIONAHA.119.044434. [Epub ahead of print]

PMID:
31707832
3.

Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison.

Papiris SA, Tsirigotis P, Kannengiesser C, Kolilekas L, Gkirkas K, Papaioannou AI, Revy P, Giouleka P, Papadaki G, Kagouridis K, Pappa V, Borie R, Boileau C, Bouros D, Crestani B, Manali ED.

Respir Res. 2019 Aug 13;20(1):182. doi: 10.1186/s12931-019-1151-6.

4.

Genetic testing for aortopathies: primer for the nongeneticist.

De Backer J, Jondeau G, Boileau C.

Curr Opin Cardiol. 2019 Nov;34(6):585-593. doi: 10.1097/HCO.0000000000000669.

PMID:
31397689
5.

Core-Shell Polymer-Based Nanoparticles Deliver miR-155-5p to Endothelial Cells.

Antunes JC, Benarroch L, Moraes FC, Juenet M, Gross MS, Aubart M, Boileau C, Caligiuri G, Nicoletti A, Ollivier V, Chaubet F, Letourneur D, Chauvierre C.

Mol Ther Nucleic Acids. 2019 Sep 6;17:210-222. doi: 10.1016/j.omtn.2019.05.016. Epub 2019 Jun 4.

6.

Systems pharmacology-based integration of human and mouse data for drug repurposing to treat thoracic aneurysms.

Hansen J, Galatioto J, Caescu CI, Arnaud P, Calizo RC, Spronck B, Murtada SI, Borkar R, Weinberg A, Azeloglu EU, Bintanel-Morcillo M, Gallo JM, Humphrey JD, Jondeau G, Boileau C, Ramirez F, Iyengar R.

JCI Insight. 2019 Jun 6;4(11). pii: 127652. doi: 10.1172/jci.insight.127652. eCollection 2019 Jun 6.

7.

Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome.

Milleron O, Ropers J, Arnoult F, Bouleti C, Delorme G, Langeois M, Tchitchinadze M, Guien C, Beroud C, Boileau C, Jondeau G.

Circ Cardiovasc Imaging. 2019 Mar;12(3):e008129. doi: 10.1161/CIRCIMAGING.118.008129.

PMID:
30841707
8.

Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome.

Benarroch L, Aubart M, Gross MS, Arnaud P, Hanna N, Jondeau G, Boileau C.

Genes (Basel). 2019 Feb 11;10(2). pii: E128. doi: 10.3390/genes10020128.

9.

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).

Arnaud P, Hanna N, Benarroch L, Aubart M, Bal L, Bouvagnet P, Busa T, Dulac Y, Dupuis-Girod S, Edouard T, Faivre L, Gouya L, Lacombe D, Langeois M, Leheup B, Milleron O, Naudion S, Odent S, Tchitchinadze M, Ropers J, Jondeau G, Boileau C.

Genet Med. 2019 Sep;21(9):2015-2024. doi: 10.1038/s41436-019-0444-y. Epub 2019 Feb 11.

PMID:
30739908
10.

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM.

J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19.

PMID:
30661052
11.

Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.

Borie R, Bouvry D, Cottin V, Gauvain C, Cazes A, Debray MP, Cadranel J, Dieude P, Degot T, Dominique S, Gamez AS, Jaillet M, Juge PA, Londono-Vallejo A, Mailleux A, Mal H, Boileau C, Menard C, Nunes H, Prevot G, Quetant S, Revy P, Traclet J, Wemeau-Stervinou L, Wislez M, Kannengiesser C, Crestani B.

Eur Respir J. 2019 Feb 7;53(2). pii: 1800508. doi: 10.1183/13993003.00508-2018. Print 2019 Feb.

PMID:
30523160
12.

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.

Di Filippo M, Varret M, Boehm V, Rabès JP, Ferkdadji L, Abramowitz L, Dumont S, Lenaerts C, Boileau C, Joly F, Schmitz J, Samson-Bouma ME, Bonnefont-Rousselot D.

J Clin Lipidol. 2019 Jan - Feb;13(1):201-212. doi: 10.1016/j.jacl.2018.10.003. Epub 2018 Oct 24.

PMID:
30522860
13.

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.

El Khoury P, Couvert P, Elbitar S, Ghaleb Y, Abou-Khalil Y, Azar Y, Ayoub C, Superville A, Guérin M, Rabès JP, Varret M, Boileau C, Jambart S, Giral P, Carrié A, Le Goff W, Abifadel M.

J Clin Lipidol. 2018 Nov - Dec;12(6):1374-1382. doi: 10.1016/j.jacl.2018.08.013. Epub 2018 Sep 1.

PMID:
30361172
14.

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.

Juge PA, Lee JS, Ebstein E, Furukawa H, Dobrinskikh E, Gazal S, Kannengiesser C, Ottaviani S, Oka S, Tohma S, Tsuchiya N, Rojas-Serrano J, González-Pérez MI, Mejía M, Buendía-Roldán I, Falfán-Valencia R, Ambrocio-Ortiz E, Manali E, Papiris SA, Karageorgas T, Boumpas D, Antoniou K, van Moorsel CHM, van der Vis J, de Man YA, Grutters JC, Wang Y, Borie R, Wemeau-Stervinou L, Wallaert B, Flipo RM, Nunes H, Valeyre D, Saidenberg-Kermanac'h N, Boissier MC, Marchand-Adam S, Frazier A, Richette P, Allanore Y, Sibilia J, Dromer C, Richez C, Schaeverbeke T, Lioté H, Thabut G, Nathan N, Amselem S, Soubrier M, Cottin V, Clément A, Deane K, Walts AD, Fingerlin T, Fischer A, Ryu JH, Matteson EL, Niewold TB, Assayag D, Gross A, Wolters P, Schwarz MI, Holers M, Solomon JJ, Doyle T, Rosas IO, Blauwendraat C, Nalls MA, Debray MP, Boileau C, Crestani B, Schwartz DA, Dieudé P.

N Engl J Med. 2018 Dec 6;379(23):2209-2219. doi: 10.1056/NEJMoa1801562. Epub 2018 Oct 20.

15.

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression.

Benarroch L, Aubart M, Gross MS, Jacob MP, Arnaud P, Hanna N, Jondeau G, Boileau C.

Genes (Basel). 2018 Aug 21;9(9). pii: E421. doi: 10.3390/genes9090421.

16.

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability.

Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob MP, Gouya L, Génin E, Deleuze JF, Jondeau G, Boileau C.

Eur J Hum Genet. 2018 Dec;26(12):1759-1772. doi: 10.1038/s41431-018-0164-9. Epub 2018 Aug 7.

17.

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J.

J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.

18.

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.

Wallace SE, Regalado ES, Gong L, Janda AL, Guo DC, Russo CF, Kulmacz RJ, Hanna N, Jondeau G, Boileau C, Arnaud P, Lee K, Leal SM, Hannuksela M, Carlberg B, Johnston T, Antolik C, Hostetler EM, Colombo R, Milewicz DM.

Genet Med. 2019 Jan;21(1):144-151. doi: 10.1038/s41436-018-0038-0. Epub 2018 Jun 20.

19.

The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention.

Dummer TJB, Awadalla P, Boileau C, Craig C, Fortier I, Goel V, Hicks JMT, Jacquemont S, Knoppers BM, Le N, McDonald T, McLaughlin J, Mes-Masson AM, Nuyt AM, Palmer LJ, Parker L, Purdue M, Robson PJ, Spinelli JJ, Thompson D, Vena J, Zawati M; with the CPTP Regional Cohort Consortium.

CMAJ. 2018 Jun 11;190(23):E710-E717. doi: 10.1503/cmaj.170292.

20.

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Elbitar S, Susan-Resiga D, Ghaleb Y, El Khoury P, Peloso G, Stitziel N, Rabès JP, Carreau V, Hamelin J, Ben-Djoudi-Ouadda A, Bruckert E, Boileau C, Seidah NG, Varret M, Abifadel M.

Sci Rep. 2018 Jan 31;8(1):1943. doi: 10.1038/s41598-018-20281-9.

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