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Items: 1 to 20 of 372

2.

The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy.

Moore CJ, Daly EM, Tassone F, Tysoe C, Schmitz N, Ng V, Chitnis X, McGuire P, Suckling J, Davies KE, Hagerman RJ, Hagerman PJ, Murphy KC, Murphy DG.

Brain. 2004 Dec;127(Pt 12):2672-81. Epub 2004 Oct 13.

PMID:
15483045
3.

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families.

Milà M, Kruyer H, Glover G, Sánchez A, Carbonell P, Castellví-Bell S, Volpini V, Rossell J, Gabarrón J, López I, et al.

Hum Genet. 1994 Oct;94(4):395-400.

PMID:
7927336
4.

Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients.

Klauck SM, Münstermann E, Bieber-Martig B, Rühl D, Lisch S, Schmötzer G, Poustka A, Poustka F.

Hum Genet. 1997 Aug;100(2):224-9.

PMID:
9254854
5.

[Detection of FMR-1 gene expression by RT-PCR].

Zheng L, Fan Y, Huang T, Zhu N, Shen Y, Wu G.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1995 Dec;17(6):407-11. Chinese.

PMID:
9208564
6.

Absence of the fragile X CGG trinucleotide repeat expansion in girls diagnosed with a pervasive developmental disorder.

Meyer GA, Blum NJ, Hitchcock W, Fortina P.

J Pediatr. 1998 Sep;133(3):363-5.

PMID:
9738717
7.

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA.

Hum Mol Genet. 1994 Apr;3(4):615-20.

PMID:
8069307
8.

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

De Boulle K, Verkerk AJ, Reyniers E, Vits L, Hendrickx J, Van Roy B, Van den Bos F, de Graaff E, Oostra BA, Willems PJ.

Nat Genet. 1993 Jan;3(1):31-5.

PMID:
8490650
9.

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
10.

Fragile X syndrome: discordant levels of CGG repeat mosaicism in two brothers.

Mueller OT, Hartsfield JK Jr, Amar MJ, Gallardo LA, Kousseff BG.

Am J Med Genet. 1995 Aug 14;60(4):302-6.

PMID:
7485265
11.

A methylation PCR approach for detection of fragile X syndrome.

Panagopoulos I, Lassen C, Kristoffersson U, Aman P.

Hum Mutat. 1999;14(1):71-9.

PMID:
10447261
12.

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

Castellví-Bel S, Milà M, Soler A, Carrió A, Sánchez A, Villa M, Jiménez MD, Estivill X.

Prenat Diagn. 1995 Sep;15(9):801-7.

PMID:
8559749
13.

Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene.

Steyaert J, Borghgraef M, Legius E, Fryns JP.

Am J Med Genet. 1996 Aug 9;64(2):274-7.

PMID:
8844064
14.

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

Orrico A, Galli L, Dotti MT, Plewnia K, Censini S, Federico A.

Am J Med Genet. 1998 Jul 24;78(4):341-4.

PMID:
9714436
15.

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

Kruyer H, Milà M, Glover G, Carbonell P, Ballesta F, Estivill X.

Am J Hum Genet. 1994 Mar;54(3):437-42.

16.

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Genç B, Müller-Hartmann H, Zeschnigk M, Deissler H, Schmitz B, Majewski F, von Gontard A, Doerfler W.

Nucleic Acids Res. 2000 May 15;28(10):2141-52.

17.

Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.

Kambouris M, Snow K, Thibodeau S, Bluhm D, Green M, Feldman GL.

Am J Med Genet. 1996 Aug 9;64(2):404-7.

PMID:
8844092
18.

Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter.

Godde JS, Kass SU, Hirst MC, Wolffe AP.

J Biol Chem. 1996 Oct 4;271(40):24325-8.

19.

Deletion in the FMR1 gene in a fragile-X male.

Mannermaa A, Pulkkinen L, Kajanoja E, Ryynänen M, Saarikoski S.

Am J Med Genet. 1996 Aug 9;64(2):293-5.

PMID:
8844068
20.

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD.

Am J Med Genet. 1999 Jul 30;85(3):311-6.

PMID:
10398249

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