Bonaïti-Péllié C - Search Results

1

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

Saint-Jore B, Varret M, Dachet C, Rabès JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathé D, Chanu B, Jacotot B, Farnier M, Bonaïti-Péllié C, Junien C, Boileau C. Saint-Jore B, et al. Eur J Hum Genet. 2000 Aug;8(8):621-30. doi: 10.1038/sj.ejhg.5200516. Eur J Hum Genet. 2000. PMID: 10952765

2

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

Boileau C, Jondeau G, Babron MC, Coulon M, Alexandre JA, Sakai L, Melki J, Delorme G, Dubourg O, Bonaïti-Pellié C, et al. Boileau C, et al. Am J Hum Genet. 1993 Jul;53(1):46-54. Am J Hum Genet. 1993. PMID: 8317497 Free PMC article.

3

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. Nat Genet. 1994 Nov;8(3):264-8. doi: 10.1038/ng1194-264. Nat Genet. 1994. PMID: 7632217 Free PMC article.

4

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

Lavedan C, Hofmann-Radvanyi H, Boileau C, Bonaïti-Pellié C, Savoy D, Shelbourne P, Duros C, Rabes JP, Dehaupas I, Luce S, et al. Lavedan C, et al. J Med Genet. 1994 Jan;31(1):33-6. doi: 10.1136/jmg.31.1.33. J Med Genet. 1994. PMID: 8151634 Free PMC article.

5

Testing genomic imprinting in Wilm's tumor.

Moutou C, Chompret A, Hochez J, Tournade MF, Zucker JM, Lemerle J, Junien C, Bonaïti-Pellié C. Moutou C, et al. Eur J Hum Genet. 1993;1(3):190-205. doi: 10.1159/000472413. Eur J Hum Genet. 1993. PMID: 8044646

6

Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females.

Moutou C, Junien C, Henry I, Bonaïti-Pellié C. Moutou C, et al. J Med Genet. 1992 Apr;29(4):217-20. doi: 10.1136/jmg.29.4.217. J Med Genet. 1992. PMID: 1583638 Free PMC article.

7

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. Nat Genet. 1995 Mar;9(3):230-231. doi: 10.1038/ng0395-230. Nat Genet. 1995. PMID: 21836810 Free PMC article. No abstract available.

8

Uniparental paternal disomy in a genetic cancer-predisposing syndrome.

Henry I, Bonaiti-Pellié C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C. Henry I, et al. Nature. 1991 Jun 20;351(6328):665-7. doi: 10.1038/351665a0. Nature. 1991. PMID: 1675767

9

Alport syndrome: a genetic study of 31 families.

M'Rad R, Sanak M, Deschenes G, Zhou J, Bonaiti-Pellie C, Holvoet-Vermaut L, Heuertz S, Gubler MC, Broyer M, Grunfeld JP, et al. M'Rad R, et al. Hum Genet. 1992 Dec;90(4):420-6. doi: 10.1007/BF00220471. Hum Genet. 1992. PMID: 1483700

10

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Pelet A, Rotig A, Bonaïti-Pellié C, Rabier D, Cormier V, Toumas E, Hentzen D, Saudubray JM, Munnich A. Pelet A, et al. Hum Genet. 1990 Jan;84(2):167-71. doi: 10.1007/BF00208934. Hum Genet. 1990. PMID: 2298453

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