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Items: 16

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.

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.

3.

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.

4.

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
5.

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
6.

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.

7.

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.

8.

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.

9.

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.

10.

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.

Wahbi K, Porcher R, Laforêt P, Fayssoil A, Bécane HM, Lazarus A, Sochala M, Stojkovic T, Béhin A, Leonard-Louis S, Arnaud P, Furling D, Probst V, Babuty D, Pellieux S, Clementy N, Bassez G, Péréon Y, Eymard B, Duboc D.

JAMA Neurol. 2018 May 1;75(5):573-581. doi: 10.1001/jamaneurol.2017.4778.

11.

Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry.

Chong-Nguyen C, Wahbi K, Algalarrondo V, Bécane HM, Radvanyi-Hoffman H, Arnaud P, Furling D, Lazarus A, Bassez G, Béhin A, Fayssoil A, Laforêt P, Stojkovic T, Eymard B, Duboc D.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001526. doi: 10.1161/CIRCGENETICS.116.001526.

PMID:
28611030
12.

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.

Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G.

Hum Mutat. 2016 Dec;37(12):1308-1317. doi: 10.1002/humu.23119. Epub 2016 Oct 10.

PMID:
27647783
13.

Actionable Genes, Core Databases, and Locus-Specific Databases.

Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G.

Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26.

PMID:
27600092
14.

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C.

J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31.

15.

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.

Le Gloan L, Hauet Q, David A, Hanna N, Arfeuille C, Arnaud P, Boileau C, Romefort B, Benbrik N, Gournay V, Joram N, Baron O, Isidor B.

Mol Syndromol. 2016 Feb;6(6):281-6. doi: 10.1159/000443867. Epub 2016 Feb 2.

16.

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ; University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM.

Circ Res. 2016 Mar 18;118(6):928-34. doi: 10.1161/CIRCRESAHA.115.307130. Epub 2016 Jan 12.

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