Oberlé I - Search Results

1

Direct DNA analysis of fragile X syndrome in Spanish pedigrees.

Tejada I, Mornet E, Biancalana V, Oberlé I, Boué J, Mandel JL, Boué A. Tejada I, et al. Among authors: oberle i. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):282-90. doi: 10.1002/ajmg.1320430144. Am J Med Genet. 1992. PMID: 1351363

2

On some technical aspects of direct DNA diagnosis of the fragile X syndrome.

Rousseau F, Heitz D, Biancalana V, Oberlé I, Mandel JL. Rousseau F, et al. Among authors: oberle i. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):197-207. doi: 10.1002/ajmg.1320430133. Am J Med Genet. 1992. PMID: 1351361

3

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.

Devys D, Biancalana V, Rousseau F, Boué J, Mandel JL, Oberlé I. Devys D, et al. Among authors: oberle i. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):208-16. doi: 10.1002/ajmg.1320430134. Am J Med Genet. 1992. PMID: 1605193

4

Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association.

Oberlé I, Boué J, Croquette MF, Voelckel MA, Mattei MG, Mandel JL. Oberlé I, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):224-31. doi: 10.1002/ajmg.1320430136. Am J Med Genet. 1992. PMID: 1605195

5

Methylation and mutation patterns in the fragile X syndrome.

Malmgren H, Steén-Bondeson ML, Gustavson KH, Seémanova E, Holmgren G, Oberlé I, Mandel JL, Pettersson U, Dahl N. Malmgren H, et al. Among authors: oberle i. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):268-78. doi: 10.1002/ajmg.1320430142. Am J Med Genet. 1992. PMID: 1605200

6

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

Rousseau F, Heitz D, Oberlé I, Mandel JL. Rousseau F, et al. Among authors: oberle i. J Med Genet. 1991 Dec;28(12):830-6. doi: 10.1136/jmg.28.12.830. J Med Genet. 1991. PMID: 1757958 Free PMC article.

7

New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus.

Rousseau F, Vincent A, Oberlé I, Mandel JL. Rousseau F, et al. Among authors: oberle i. Hum Genet. 1990 Feb;84(3):263-6. doi: 10.1007/BF00200572. Hum Genet. 1990. PMID: 1968034

8

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.

Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boué J, Bertheas MF, Mandel JL. Oberlé I, et al. Science. 1991 May 24;252(5009):1097-102. doi: 10.1126/science.252.5009.1097. Science. 1991. PMID: 2031184

9

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.

Guioli S, Arveiler B, Bardoni B, Notarangelo LD, Panina P, Duse M, Ugazio A, Oberlé I, de Saint Basile G, Mandel JL, et al. Guioli S, et al. Among authors: oberle i. Hum Genet. 1989 Dec;84(1):19-21. doi: 10.1007/BF00210664. Hum Genet. 1989. PMID: 2575070

10

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

Arveiler B, Oberlé I, Vincent A, Hofker MH, Pearson PL, Mandel JL. Arveiler B, et al. Among authors: oberle i. Am J Hum Genet. 1988 Feb;42(2):380-9. Am J Hum Genet. 1988. PMID: 2893549 Free PMC article.

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