Bonnet D - Search Results

1

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

Eyries M, Montani D, Girerd B, Perret C, Leroy A, Lonjou C, Chelghoum N, Coulet F, Bonnet D, Dorfmüller P, Fadel E, Sitbon O, Simonneau G, Tregouët DA, Humbert M, Soubrier F. Eyries M, et al. Among authors: bonnet d. Nat Genet. 2014 Jan;46(1):65-9. doi: 10.1038/ng.2844. Epub 2013 Dec 1. Nat Genet. 2014. PMID: 24292273

2

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, et al. Bonnet D, et al. Nat Genet. 1994 Apr;6(4):405-8. doi: 10.1038/ng0494-405. Nat Genet. 1994. PMID: 8054983

3

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V. Le Goff C, et al. Among authors: bonnet d. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199. Nat Genet. 2008. PMID: 18677313 Free PMC article.

4

[Eisenmenger syndrome. Role of rare diseases reference centers in the management of pulmonary hypertension in congenital heart diseases].

Bonnet D, Simonneau G. Bonnet D, et al. Presse Med. 2009 Dec;38 Suppl 1:1S23-7. doi: 10.1016/S0755-4982(09)73421-9. Presse Med. 2009. PMID: 20141998 French. No abstract available.

5

Potts shunt in children with idiopathic pulmonary arterial hypertension: long-term results.

Baruteau AE, Serraf A, Lévy M, Petit J, Bonnet D, Jais X, Vouhé P, Simonneau G, Belli E, Humbert M. Baruteau AE, et al. Among authors: bonnet d. Ann Thorac Surg. 2012 Sep;94(3):817-24. doi: 10.1016/j.athoracsur.2012.03.099. Epub 2012 Jun 15. Ann Thorac Surg. 2012. PMID: 22704329

6

Palliative Potts shunt for the treatment of children with drug-refractory pulmonary arterial hypertension: updated data from the first 24 patients.

Baruteau AE, Belli E, Boudjemline Y, Laux D, Lévy M, Simonneau G, Carotti A, Humbert M, Bonnet D. Baruteau AE, et al. Among authors: bonnet d. Eur J Cardiothorac Surg. 2015 Mar;47(3):e105-10. doi: 10.1093/ejcts/ezu445. Epub 2014 Dec 4. Eur J Cardiothorac Surg. 2015. PMID: 25475943

7

Anatomy of the ventricular septal defect in outflow tract defects: similarities and differences.

Mostefa-Kara M, Bonnet D, Belli E, Fadel E, Houyel L. Mostefa-Kara M, et al. Among authors: bonnet d. J Thorac Cardiovasc Surg. 2015 Mar;149(3):682-8.e1. doi: 10.1016/j.jtcvs.2014.11.087. Epub 2014 Dec 4. J Thorac Cardiovasc Surg. 2015. PMID: 25703407 Free article.

8

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT. Guimier A, et al. Among authors: bonnet d. Nat Genet. 2015 Nov;47(11):1260-3. doi: 10.1038/ng.3376. Epub 2015 Oct 5. Nat Genet. 2015. PMID: 26437028 Free PMC article.

9

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

Le Goff C, Rogers C, Le Goff W, Pinto G, Bonnet D, Chrabieh M, Alibeu O, Nistchke P, Munnich A, Picard C, Cormier-Daire V. Le Goff C, et al. Among authors: bonnet d. Am J Hum Genet. 2016 Aug 4;99(2):407-13. doi: 10.1016/j.ajhg.2016.06.005. Epub 2016 Jul 14. Am J Hum Genet. 2016. PMID: 27426734 Free PMC article.

10

Genetic analyses in a cohort of children with pulmonary hypertension.

Levy M, Eyries M, Szezepanski I, Ladouceur M, Nadaud S, Bonnet D, Soubrier F. Levy M, et al. Among authors: bonnet d. Eur Respir J. 2016 Oct;48(4):1118-1126. doi: 10.1183/13993003.00211-2016. Epub 2016 Sep 1. Eur Respir J. 2016. PMID: 27587546 Free article.

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