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Items: 1 to 20 of 144

1.

Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome.

Webb T, Jacobs PA.

J Med Genet. 1990 Oct;27(10):627-31.

2.

Effect of X inactivation on fragile X frequency and mental retardation.

Rosenberg C, Vianna-Morgante AM, Otto PA, Navajas L.

Am J Med Genet. 1991 Feb-Mar;38(2-3):421-4.

PMID:
2018084
4.

X chromosome inactivation in fibroblasts of mentally retarded female carriers of the fragile site Xq27.3: application of the probe M27 beta to evaluate X inactivation status.

Schmidt M, Du Sart D, Kalitsis P, Fraser N, Leversha M, Voullaire L, Foster D, Davies J, Hills L, Petrovic V, et al.

Am J Med Genet. 1991 Feb-Mar;38(2-3):411-5.

PMID:
1673316
5.

Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation.

Wilhelm D, Froster-Iskenius U, Paul J, Schwinger E.

Am J Med Genet. 1988 May-Jun;30(1-2):407-15.

PMID:
3177461
6.

Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X)(q27.3) in heterozygotes.

Mingroni-Netto RC, Fernandes JG, Vianna-Morgante AM.

Am J Med Genet. 1994 Jul 15;51(4):443-6.

PMID:
7943014
8.

DNA studies of X-linked mental retardation associated with a fragile site at Xq27.3.

Goonewardena P, Dahl N, Gustavson KH, Holmgren G, Pettersson U.

Ups J Med Sci Suppl. 1987;44:155-64.

PMID:
2895524
9.

Expression of the autosomal folate-sensitive fragile sites in ten kindreds with Martin-Bell syndrome.

Ventruto V, Stabile M, Gentile G, de Tollis G, Colantuoni M, Sirone P, Perone L, Lonardo F, Della Monica M, Fiore M.

Ann Genet. 1986;29(1):59-61.

PMID:
3487280
11.
12.

Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.

Webb GC, Halliday JL, Pitt DB, Judge CG, Leversha M.

J Med Genet. 1982 Feb;19(1):44-8.

13.

Replication status of fragile X(q27.3) in 13 female heterozygotes.

Tuckerman E, Webb T, Thake A.

J Med Genet. 1986 Oct;23(5):407-10.

14.

Autosomal folate sensitive fragile sites in normal and mentally retarded individuals in Greece.

Mavrou A, Syrrou M, Tsenghi C, Metaxotou C.

Am J Med Genet. 1991 Feb-Mar;38(2-3):437-9.

PMID:
2018086
15.

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome).

Froster-Iskenius U, McGillivray BC, Dill FJ, Hall JG, Herbst DS.

Am J Med Genet. 1986 Jan-Feb;23(1-2):619-31.

PMID:
3953672
16.

A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation.

Pembrey ME, Winter RM, Davies KE.

Am J Med Genet. 1985 Aug;21(4):709-17.

PMID:
4040705
17.

The fragile X syndrome I: familial variation in the proportion of lymphocytes with the fragile site in males.

Soudek D, Partington MW, Lawson JS.

Am J Med Genet. 1984 Jan;17(1):241-52.

PMID:
6711598
18.

Activity of the fragile X in heterozygous carriers.

Uchida IA, Joyce EM.

Am J Hum Genet. 1982 Mar;34(2):286-93.

19.
20.

Additional evidence for fragile X activity in heterozygous carriers.

Uchida IA, Freeman VC, Jamro H, Partington MW, Soltan HC.

Am J Hum Genet. 1983 Sep;35(5):861-8.

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