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Page 1
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: topouchian v. 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.
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. Sousa SB, et al. Among authors: topouchian v. Am J Med Genet A. 2011 May;155A(5):1178-83. doi: 10.1002/ajmg.a.33813. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484991 No abstract available.
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S, Baujat G, Seyahi A, Garoufali AG, Imel EA, Padgett LR, Austin AM, Sorenson AH, Pejin Z, Topouchian V, Quartier P, Cormier-Daire V, Dechaux M, Malandrinou FCh, Singhellakis PN, Le Merrer M, Econs MJ. Ichikawa S, et al. Among authors: topouchian v. Am J Med Genet A. 2010 Apr;152A(4):896-903. doi: 10.1002/ajmg.a.33337. Am J Med Genet A. 2010. PMID: 20358599 Free PMC article.
[Hip and foot problems in Marfan syndrome].
Pejin Z, Pannier S, Topouchian V, Glorion Ch. Pejin Z, et al. Among authors: topouchian v. Arch Pediatr. 2008 Jun;15(5):579-81. doi: 10.1016/S0929-693X(08)71839-6. Arch Pediatr. 2008. PMID: 18582678 French. No abstract available.
[Spinal deformities in Marfan syndrome].
Morin C, Bisogno J, Chopin D, Padovani JP, Topouchian V, Glorion C. Morin C, et al. Among authors: topouchian v. Arch Pediatr. 2008 Jun;15(5):568-70. doi: 10.1016/S0929-693X(08)71836-0. Arch Pediatr. 2008. PMID: 18582675 French. No abstract available.
17 results