Heitz D - Search Results

1

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island.

Heitz D, Rousseau F, Devys D, Saccone S, Abderrahim H, Le Paslier D, Cohen D, Vincent A, Toniolo D, Della Valle G, et al. Heitz D, et al. Science. 1991 Mar 8;251(4998):1236-9. doi: 10.1126/science.2006411. Science. 1991. PMID: 2006411

2

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

3

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.

4

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

5

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.

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

Molecular cloning and analysis of the fragile X region in man.

Dietrich A, Kioschis P, Monaco AP, Gross B, Korn B, Williams SV, Sheer D, Heitz D, Oberle I, Toniolo D, et al. Dietrich A, et al. Among authors: heitz d. Nucleic Acids Res. 1991 May 25;19(10):2567-72. doi: 10.1093/nar/19.10.2567. Nucleic Acids Res. 1991. PMID: 2041732 Free PMC article.

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