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[Left heart defects and genetics].
Bajolle F, Bonnet D. Bajolle F, et al. Among authors: bonnet d. Arch Mal Coeur Vaiss. 2006 May;99(5):494-6. Arch Mal Coeur Vaiss. 2006. PMID: 16802740 Review. French.
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
Stheneur C, Faivre L, Collod-Béroud G, Gautier E, Binquet C, Bonithon-Kopp C, Claustres M, Child AH, Arbustini E, Adès LC, Francke U, Mayer K, Arslan-Kirchner M, De Paepe A, Chevallier B, Bonnet D, Jondeau G, Boileau C. Stheneur C, et al. Among authors: bonnet d. Pediatr Res. 2011 Mar;69(3):265-70. doi: 10.1203/PDR.0b013e3182097219. Pediatr Res. 2011. PMID: 21135753 Free article.
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Among authors: bonnet d. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.
1,229 results