Mandel JL - Search Results

1

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: mandel jl. 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

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: mandel jl. 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

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: mandel jl. 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

4

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

Heitz D, Devys D, Imbert G, Kretz C, Mandel JL. Heitz D, et al. Among authors: mandel jl. J Med Genet. 1992 Nov;29(11):794-801. doi: 10.1136/jmg.29.11.794. J Med Genet. 1992. PMID: 1453430 Free PMC article.

5

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.

Mandel JL, Heitz D. Mandel JL, et al. Curr Opin Genet Dev. 1992 Jun;2(3):422-30. doi: 10.1016/s0959-437x(05)80153-4. Curr Opin Genet Dev. 1992. PMID: 1504617 Review.

6

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: mandel jl. 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

7

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. Among authors: mandel jl. 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

8

Fifth international workshop on fragile X and X-linked mental retardation.

Mandel JL, Hagerman R, Froster U, Brown WT, Jenkins EC, Jacobs P, TurnerG, Lubs H, Neri G. Mandel JL, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):5-27. doi: 10.1002/ajmg.1320430104. Am J Med Genet. 1992. PMID: 1605233 No abstract available.

9

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.

Vincent A, Heitz D, Petit C, Kretz C, Oberlé I, Mandel JL. Vincent A, et al. Among authors: mandel jl. Nature. 1991 Feb 14;349(6310):624-6. doi: 10.1038/349624a0. Nature. 1991. PMID: 1672039

10

Genetic mapping of new RFLPs at Xq27-q28.

Suthers GK, Oberlé I, Nancarrow J, Mulley JC, Hyland VJ, Wilson PJ, McCure J, Morris CP, Hopwood JJ, Mandel JL, et al. Suthers GK, et al. Among authors: mandel jl. Genomics. 1991 Jan;9(1):37-43. doi: 10.1016/0888-7543(91)90218-4. Genomics. 1991. PMID: 1672291

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