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Page 1
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.
Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaïti-Pellié C, Junien C, Boileau C. Collod G, et al. Among authors: junien c. Nat Genet. 1994 Nov;8(3):264-8. doi: 10.1038/ng1194-264. Nat Genet. 1994. PMID: 7632217 Free PMC article.
[Marfan syndrome. Current molecular data].
Boileau C, Coulon M, Junien C. Boileau C, et al. Among authors: junien c. Arch Fr Pediatr. 1992 Dec;49(10):941-3. Arch Fr Pediatr. 1992. PMID: 1304168 Review. French. No abstract available.
Reply to "The question of heterogeneity in Marfan syndrome".
Boileau C, Junien C, Collod G, Jondeau G, Dubourg O, Bourdarias JP, Bonaïti-Pellié C, Frezal J, Maroteaux P. Boileau C, et al. Among authors: junien c. Nat Genet. 1995 Mar;9(3):230-231. doi: 10.1038/ng0395-230. Nat Genet. 1995. PMID: 21836810 Free PMC article. No abstract available.
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
Varret M, Rabès JP, Saint-Jore B, Cenarro A, Marinoni JC, Civeira F, Devillers M, Krempf M, Coulon M, Thiart R, Kotze MJ, Schmidt H, Buzzi JC, Kostner GM, Bertolini S, Pocovi M, Rosa A, Farnier M, Martinez M, Junien C, Boileau C. Varret M, et al. Among authors: junien c. Am J Hum Genet. 1999 May;64(5):1378-87. doi: 10.1086/302370. Am J Hum Genet. 1999. PMID: 10205269 Free PMC article.
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Among authors: junien c. Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. Hum Mutat. 2008. PMID: 18781618 Free article.
274 results