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Results: 1 to 20 of 24

1.

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

Reyniers E, Vits L, De Boulle K, Van Roy B, Van Velzen D, de Graaff E, Verkerk AJ, Jorens HZ, Darby JK, Oostra B, et al.

Nat Genet. 1993 Jun;4(2):143-6.

PMID:
8348152
[PubMed - indexed for MEDLINE]
2.

Molecular diagnosis and genetic counseling for fragile X mental retardation.

Pandey UB, Phadke SR, Mittal B.

Neurol India. 2004 Mar;52(1):36-42. Review.

PMID:
15069237
[PubMed - indexed for MEDLINE]
Free Article
3.

Fragile X syndrome and deletions in FMR1: new case and review of the literature.

Hammond LS, Macias MM, Tarleton JC, Shashidhar Pai G.

Am J Med Genet. 1997 Nov 12;72(4):430-4. Review.

PMID:
9375726
[PubMed - indexed for MEDLINE]
4.

Molecular analysis of the fragile X syndrome.

Knight SJ, Hirst MC, Davies KE.

Dis Markers. 1992 Jan-Feb;10(1):1-5. Review.

PMID:
1424438
[PubMed - indexed for MEDLINE]
5.

The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.

Oostra BA, Verkerk AJ.

Chromosoma. 1992 Apr;101(7):381-7. Review.

PMID:
1618021
[PubMed - indexed for MEDLINE]
6.

An assessment of screening strategies for fragile X syndrome in the UK.

Pembrey ME, Barnicoat AJ, Carmichael B, Bobrow M, Turner G.

Health Technol Assess. 2001;5(7):1-95. Review.

PMID:
11262423
[PubMed - indexed for MEDLINE]
Free Article
7.

Advances in research on the fragile X syndrome.

Mazzocco MM.

Ment Retard Dev Disabil Res Rev. 2000;6(2):96-106. Review.

PMID:
10899802
[PubMed - indexed for MEDLINE]
8.

Molecular pathology of the fragile X syndrome.

Tsongalis GJ, Silverman LM.

Arch Pathol Lab Med. 1993 Nov;117(11):1121-5. Review.

PMID:
8239933
[PubMed - indexed for MEDLINE]
9.

The fragile X premutation: into the phenotypic fold.

Hagerman RJ, Hagerman PJ.

Curr Opin Genet Dev. 2002 Jun;12(3):278-83. Review.

PMID:
12076670
[PubMed - indexed for MEDLINE]
10.

A fragile gene.

Oostra BA, Willems PJ.

Bioessays. 1995 Nov;17(11):941-7. Review.

PMID:
8526888
[PubMed - indexed for MEDLINE]
11.

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

Mandel JL, Heitz D.

Curr Opin Genet Dev. 1992 Jun;2(3):422-30. Review.

PMID:
1504617
[PubMed - indexed for MEDLINE]
12.

The fragile X gene and its function.

Oostra BA, Chiurazzi P.

Clin Genet. 2001 Dec;60(6):399-408. Review.

PMID:
11846731
[PubMed - indexed for MEDLINE]
13.

The Fragile X premutation: new insights and clinical consequences.

Van Esch H.

Eur J Med Genet. 2006 Jan-Feb;49(1):1-8. Epub 2005 Dec 5. Review.

PMID:
16473304
[PubMed - indexed for MEDLINE]
14.

Complex behavior of simple repeats: the fragile X syndrome.

Oostra BA, Halley DJ.

Pediatr Res. 1995 Nov;38(5):629-37. Review.

PMID:
8552426
[PubMed - indexed for MEDLINE]
15.

Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.

Mandel JL, Biancalana V.

Growth Horm IGF Res. 2004 Jun;14 Suppl A:S158-65. Review.

PMID:
15135801
[PubMed - indexed for MEDLINE]
16.

[Pathology of unstable sequence of genome: fragile-X-syndrome].

Beldjord C, Richard L.

C R Seances Soc Biol Fil. 1992;186(4):363-70. Review. French.

PMID:
1301224
[PubMed - indexed for MEDLINE]
17.

Fragile X syndrome.

Laxova R.

Adv Pediatr. 1994;41:305-42. Review.

PMID:
7992687
[PubMed - indexed for MEDLINE]
18.

Concerning the role of X-inactivation and DNA methylation in fragile X syndrome.

Migeon BR.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):291-8. Review.

PMID:
1605203
[PubMed - indexed for MEDLINE]
19.

Hypermethylation of telomere-like foldbacks at codon 12 of the human c-Ha-ras gene and the trinucleotide repeat of the FMR-1 gene of fragile X.

Smith SS, Laayoun A, Lingeman RG, Baker DJ, Riley J.

J Mol Biol. 1994 Oct 21;243(2):143-51. Review.

PMID:
7932745
[PubMed - indexed for MEDLINE]
20.

Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome.

Chiurazzi P, Kozak L, Neri G.

Am J Med Genet. 1994 Jul 15;51(4):517-21. Review.

PMID:
7943033
[PubMed - indexed for MEDLINE]
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