Heitz D - Search Results

1

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: heitz d. 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

2

The unstable and methylatable mutations causing the fragile X syndrome.

Rousseau F, Heitz D, Mandel JL. Rousseau F, et al. Among authors: heitz d. Hum Mutat. 1992;1(2):91-6. doi: 10.1002/humu.1380010202. Hum Mutat. 1992. PMID: 1301206 Review. No abstract available.

3

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. 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.

4

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

Mandel JL, Heitz D. Mandel JL, et al. Among authors: heitz d. 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.

5

A reinvestigation of thirty three fragile(X) families using probe StB12.3.

Macpherson J, Harvey J, Curtis G, Webb T, Heitz D, Rousseau F, Jacobs P. Macpherson J, et al. Among authors: heitz d. Am J Med Genet. 1992 Jul 15;43(5):905-12. doi: 10.1002/ajmg.1320430535. Am J Med Genet. 1992. PMID: 1642285

6

Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).

Rousseau F, Vincent A, Rivella S, Heitz D, Triboli C, Maestrini E, Warren ST, Suthers GK, Goodfellow P, Mandel JL, et al. Rousseau F, et al. Among authors: heitz d. Am J Hum Genet. 1991 Jan;48(1):108-16. Am J Hum Genet. 1991. PMID: 1670748 Free PMC article.

7

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: heitz d. Nature. 1991 Feb 14;349(6310):624-6. doi: 10.1038/349624a0. Nature. 1991. PMID: 1672039

8

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: heitz d. 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.

9

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF, et al. Rousseau F, et al. Among authors: heitz d. N Engl J Med. 1991 Dec 12;325(24):1673-81. doi: 10.1056/NEJM199112123252401. N Engl J Med. 1991. PMID: 1944467 Free article.

10

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. Among authors: heitz d. Science. 1991 May 24;252(5009):1097-102. doi: 10.1126/science.252.5009.1097. Science. 1991. PMID: 2031184

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