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Results: 1 to 20 of 109

1.

Intragenic probe used for diagnostics in fragile X families.

Verkerk AJ, deVries BB, Niermeijer MF, Fu YH, Nelson DL, Warren ST, Majoor-Krakauer DF, Halley DJ, Oostra BA.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):192-6.

PMID:
1605192
[PubMed - indexed for MEDLINE]
2.

Diagnosis of fragile X syndrome by direct mutation analysis.

Väisänen ML, Kähkönen M, Leisti J.

Hum Genet. 1994 Feb;93(2):143-7.

PMID:
8112737
[PubMed - indexed for MEDLINE]
3.

Analysis of mutations at the fragile X locus using the DNA probe Ox1.9.

Snow K, Doud L, Hagerman R, Hull C, Hirst MC, Davies KE, Thibodeau SL.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):244-54.

PMID:
1605198
[PubMed - indexed for MEDLINE]
4.

Molecular studies of the fragile X syndrome.

Knight SJ, Hirst MC, Roche A, Christodoulou Z, Huson SM, Winter R, Fitchett M, McKinley MJ, Lindenbaum RH, Nakahori Y, et al.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):217-23.

PMID:
1605194
[PubMed - indexed for MEDLINE]
5.

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.

Steinbach P, Wöhrle D, Tariverdian G, Kennerknecht I, Barbi G, Edlinger H, Enders H, Götz-Sothmann M, Heilbronner H, Hosenfeld D, et al.

Hum Genet. 1993 Nov;92(5):491-8.

PMID:
7902319
[PubMed - indexed for MEDLINE]
6.

Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.

Macpherson JN, Nelson DL, Jacobs PA.

J Med Genet. 1992 Nov;29(11):802-6.

PMID:
1453431
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe.

van Oost BA, Smits AP, Dreesen JC, van den Ouweland AM, Oostra BA.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):320-7.

PMID:
1605205
[PubMed - indexed for MEDLINE]
8.

Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis.

Kaplan G, Kung M, McClure M, Cronister A.

Am J Med Genet. 1994 Jul 15;51(4):501-2.

PMID:
7943028
[PubMed - indexed for MEDLINE]
9.

The fragile X syndrome: implications of molecular genetics for the clinical syndrome.

Rousseau F.

Eur J Clin Invest. 1994 Jan;24(1):1-10. Review.

PMID:
8187801
[PubMed - indexed for MEDLINE]
10.

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.

N Engl J Med. 1991 Dec 12;325(24):1673-81.

PMID:
1944467
[PubMed - indexed for MEDLINE]
Free Article
11.

[DNA diagnosis of fragile X syndrome in a family. A new type of heredity--dynamic mutations].

Eiken HG, Boman H, Apold J.

Tidsskr Nor Laegeforen. 1993 Oct 30;113(26):3236-9. Norwegian.

PMID:
8236216
[PubMed - indexed for MEDLINE]
12.

[A genetic and molecular study of 85 families affected with the fragile X syndrome].

Milà Recasens M, Sánchez Díaz A, Glover López G, Castellví Bel S, Carbonell Meseguer P, Kruyer H, Ballesta Martínez F, Estivill Pallejà X.

An Esp Pediatr. 1996 Mar;44(3):250-6. Spanish.

PMID:
8830601
[PubMed - indexed for MEDLINE]
13.

Molecular analysis of 53 fragile X families with the probe StB12.3.

Puissant H, Malinge MC, Larget-Piet A, Martin D, Chauveau P, Odent S, Plessis G, Parent P, Lemarec B, Larget-Piet L.

Am J Med Genet. 1994 Dec 1;53(4):370-3.

PMID:
7864047
[PubMed - indexed for MEDLINE]
14.

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN.

Am J Hum Genet. 1993 Dec;53(6):1217-28.

PMID:
7902673
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Fragile-X syndrome in east Finland: molecular approach to genetic and prenatal diagnosis.

Ryynänen M, Pulkkinen L, Kirkinen P, Saarikoski S.

Am J Med Genet. 1994 Jul 15;51(4):463-5.

PMID:
7943020
[PubMed - indexed for MEDLINE]
16.

Fragile X mental retardation syndrome: DNA diagnosis and carrier detection in New Zealand families.

Neville L, Cochrane J, Fitzgerald P, Kennedy M.

N Z Med J. 1995 Oct 13;108(1009):404-6.

PMID:
7478333
[PubMed - indexed for MEDLINE]
17.

Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome.

Halley D, Van Den Ouweland A, Deelen W, Verma I, Oostra B.

Am J Med Genet. 1994 Jul 15;51(4):471-3.

PMID:
7943022
[PubMed - indexed for MEDLINE]
18.

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, et al.

Am J Hum Genet. 1994 Aug;55(2):225-37.

PMID:
8037202
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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

Rousseau F, Heitz D, Biancalana V, Oberlé I, Mandel JL.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):197-207.

PMID:
1351361
[PubMed - indexed for MEDLINE]
20.

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.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):268-78.

PMID:
1605200
[PubMed - indexed for MEDLINE]

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