Kaplan JC - Search Results

1

Sequence analysis of the CAG triplet repeats region in the Huntington disease gene (IT15) in several mammalian species.

Pêcheux C, Gall AL, Kaplan JC, Dodé C. Pêcheux C, et al. Among authors: kaplan jc. Ann Genet. 1996;39(2):81-6. Ann Genet. 1996. PMID: 8766138

2

Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.

Pêcheux C, Mouret JF, Dürr A, Agid Y, Feingold J, Brice A, Dodé C, Kaplan JC. Pêcheux C, et al. Among authors: kaplan jc. J Med Genet. 1995 May;32(5):399-400. doi: 10.1136/jmg.32.5.399. J Med Genet. 1995. PMID: 7616551 Free PMC article.

3

Diagnosis of "sporadic" Huntington's disease.

Dürr A, Dodé C, Hahn V, Pêcheux C, Pillon B, Feingold J, Kaplan JC, Agid Y, Brice A. Dürr A, et al. Among authors: kaplan jc. J Neurol Sci. 1995 Mar;129(1):51-5. doi: 10.1016/0022-510x(94)00250-r. J Neurol Sci. 1995. PMID: 7751845

4

Huntington's disease in French families: CAG repeat expansion and linkage disequilibrium analysis.

Dodé C, Dürr A, Pêcheux C, Mouret JF, Belal S, Bachner L, Agid Y, Kaplan JC, Brice A, Feingold J. Dodé C, et al. Among authors: kaplan jc. C R Acad Sci III. 1993 Nov;316(11):1374-80. C R Acad Sci III. 1993. PMID: 8087617

5

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. Piccolo F, et al. Among authors: kaplan jc. Hum Mol Genet. 1996 Dec;5(12):2019-22. doi: 10.1093/hmg/5.12.2019. Hum Mol Genet. 1996. PMID: 8968757

6

Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.

Steffann J, Vidaud D, Bousquet S, Jullien M, Ninot A, Kaplan JC, Beldjord C, Bienvenu T. Steffann J, et al. Among authors: kaplan jc. Ann Genet. 1998;41(4):213-5. Ann Genet. 1998. PMID: 9881185 No abstract available.

7

Diagnostic usefulness of the polymorphism of the GT dinucleotide and the polythymidine tract in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Cazeneuve C, Beldjord C, Kaplan JC, Bienvenu T. Cazeneuve C, et al. Among authors: kaplan jc. Ann Genet. 1995;38(4):202-5. Ann Genet. 1995. PMID: 8629807

8

Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.

Bienvenu T, Adjiman M, Thiounn N, Jeanpierre M, Hubert D, Lepercoq J, Francoual C, Wolf J, Izard V, Jouannet P, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: kaplan jc. Ann Genet. 1997;40(1):5-9. Ann Genet. 1997. PMID: 9150843

9

Prevalence, male germ-line origin and new patterns of inversions in haemophilia A.

Valleix S, Nafa K, Stieltjes N, Viemont M, Sultan Y, Kaplan JC, Delpech M. Valleix S, et al. Among authors: kaplan jc. Ann Genet. 1997;40(1):35-40. Ann Genet. 1997. PMID: 9150848

10

Three novel sequence variations in the 5' upstream region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: two polymorphisms and one putative molecular defect.

Bienvenu T, Lacronique V, Raymondjean M, Cazeneuve C, Hubert D, Kaplan JC, Beldjord C. Bienvenu T, et al. Among authors: kaplan jc. Hum Genet. 1995 Jun;95(6):698-702. doi: 10.1007/BF00209490. Hum Genet. 1995. PMID: 7540587

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