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307 results
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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.
[Marfan syndrome. Current molecular data].
Boileau C, Coulon M, Junien C. Boileau C, et al. Arch Fr Pediatr. 1992 Dec;49(10):941-3. Arch Fr Pediatr. 1992. PMID: 1304168 Review. French. No abstract available.
A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.
Sarfarazi M, Tsipouras P, Del Mastro R, Kilpatrick M, Farndon P, Boxer M, Bridges A, Boileau C, Junien C, Hayward C, et al. Sarfarazi M, et al. Among authors: boileau c. J Med Genet. 1992 Feb;29(2):75-80. doi: 10.1136/jmg.29.2.75. J Med Genet. 1992. PMID: 1613769 Free PMC article.
Extended haplotypes and linkage disequilibrium between 11 markers at the APOA1-C3-A4 gene cluster on chromosome 11.
Benlian P, Boileau C, Loux N, Pastier D, Masliah J, Coulon M, Nigou M, Ragab A, Guimard J, Ruidavets JB, et al. Benlian P, et al. Among authors: boileau c. Am J Hum Genet. 1991 May;48(5):903-10. Am J Hum Genet. 1991. PMID: 1673288 Free PMC article.
Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.
Loux N, Benlian P, Pastier D, Boileau C, Cambou JP, Monnier L, Percheron C, Junien C. Loux N, et al. Among authors: boileau c. Hum Genet. 1991 Jul;87(3):373-5. doi: 10.1007/BF00200923. Hum Genet. 1991. PMID: 1677927
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.
van Essen AJ, Abbs S, Baiget M, Bakker E, Boileau C, van Broeckhoven C, Bushby K, Clarke A, Claustres M, Covone AE, et al. van Essen AJ, et al. Among authors: boileau c. Hum Genet. 1992 Jan;88(3):249-57. doi: 10.1007/BF00197255. Hum Genet. 1992. PMID: 1733826
Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.
Boileau C, Jondeau G, Bonaiti C, Coulon M, Delorme G, Dubourg O, Bourdarias JP, Junien C. Boileau C, et al. J Med Genet. 1990 Feb;27(2):78-81. doi: 10.1136/jmg.27.2.78. J Med Genet. 1990. PMID: 1969488 Free PMC article.
Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.
Boileau C, Junien C. Boileau C, et al. J Med Genet. 1989 Dec;26(12):790-1. doi: 10.1136/jmg.26.12.790. J Med Genet. 1989. PMID: 2575670 Free PMC article. No abstract available.
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: boileau c. Nat Genet. 1994 Nov;8(3):264-8. doi: 10.1038/ng1194-264. Nat Genet. 1994. PMID: 7632217 Free PMC article.
Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene.
Saint-Jore B, Loux N, Junien C, Boileau C. Saint-Jore B, et al. Among authors: boileau c. Hum Genet. 1993 Jun;91(5):511-2. doi: 10.1007/BF00217783. Hum Genet. 1993. PMID: 8100212
307 results
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