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Items: 1 to 20 of 24

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.

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.

3.

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
4.

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
5.

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.

6.

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.

7.

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.

8.

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.

9.

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
10.

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.

11.

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.

12.

A case of rheumatoid arthritis associated with SMAD3 gene mutation: a new clinical entity?

Berthet E, Hanna N, Giraud C, Soubrier M.

J Rheumatol. 2015 Mar;42(3):556. doi: 10.3899/jrheum.140645. No abstract available.

PMID:
25729048
13.

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.

Aubart M, Gross MS, Hanna N, Zabot MT, Sznajder M, Detaint D, Gouya L, Jondeau G, Boileau C, Stheneur C.

Hum Mol Genet. 2015 May 15;24(10):2764-70. doi: 10.1093/hmg/ddv037. Epub 2015 Feb 4.

PMID:
25652400
14.

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.

Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C.

Am J Hum Genet. 2014 Dec 4;95(6):736-43. doi: 10.1016/j.ajhg.2014.10.018. Epub 2014 Nov 26.

15.

ELN gene triplication responsible for familial supravalvular aortic aneurysm.

Guemann AS, Andrieux J, Petit F, Halimi E, Bouquillon S, Manouvrier-Hanu S, Van De Kamp J, Boileau C, Hanna N, Jondeau G, Vaksmann G, Houfflin-Debarge V, Holder-Espinasse M.

Cardiol Young. 2015 Apr;25(4):712-7. doi: 10.1017/S1047951114000766. Epub 2014 Jun 16.

PMID:
24932728
16.

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

Aubart M, Gobert D, Aubart-Cohen F, Detaint D, Hanna N, d'Indya H, Lequintrec JS, Renard P, Vigneron AM, Dieudé P, Laissy JP, Koch P, Muti C, Roume J, Cusin V, Grandchamp B, Gouya L, LeGuern E, Papo T, Boileau C, Jondeau G.

PLoS One. 2014 May 7;9(5):e96387. doi: 10.1371/journal.pone.0096387. eCollection 2014.

17.

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM.

Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348.

18.

Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?

Mégarbané A, Hanna N, Chouery E, Jalkh N, Mehawej C, Boileau C.

Am J Med Genet A. 2012 May;158A(5):1185-9. doi: 10.1002/ajmg.a.35279. Epub 2012 Apr 9.

PMID:
22489068
19.

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Sousa SB, Lambot-Juhan K, Rio M, Baujat G, Topouchian V, Hanna N, Le Merrer M, Brunelle F, Munnich A, Boileau C, Cormier-Daire V.

Am J Med Genet A. 2011 May;155A(5):1178-83. doi: 10.1002/ajmg.a.33813. Epub 2011 Apr 11. No abstract available.

PMID:
21484991
20.

Plasma proteome to look for diagnostic biomarkers of early bacterial sepsis after liver transplantation: a preliminary study.

Paugam-Burtz C, Albuquerque M, Baron G, Bert F, Voitot H, Delefosse D, Dondero F, Sommacale D, Francoz C, Hanna N, Belghiti J, Ravaud P, Bedossa P, Mantz J, Paradis V.

Anesthesiology. 2010 Apr;112(4):926-35. doi: 10.1097/ALN.0b013e3181d049f0.

PMID:
20216396

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