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Results: 1 to 20 of 226

1.

Expansion to full mutation of a FMR1 intermediate allele over two generations.

Terracciano A, Pomponi MG, Marino GM, Chiurazzi P, Rinaldi MM, Dobosz M, Neri G.

Eur J Hum Genet. 2004 Apr;12(4):333-6.

PMID:
14735162
[PubMed - indexed for MEDLINE]
Free Article
2.

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome.

Mornet E, Chateau C, Taillandier A, Simon-Bouy B, Serre JL.

Hum Genet. 1996 Apr;97(4):512-5.

PMID:
8834253
[PubMed - indexed for MEDLINE]
3.

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL.

Hum Mol Genet. 1996 Mar;5(3):319-30.

PMID:
8852655
[PubMed - indexed for MEDLINE]
Free Article
4.

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.

Gasteiger M, Grasbon-Frodl E, Neitzel B, Kooy F, Holinski-Feder E.

Genet Test. 2003 Winter;7(4):303-8.

PMID:
15000806
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Haplotype study of intermediate-length alleles at the fragile X (FMR1) gene: ATL1, FMRb, and microsatellite haplotypes differ from those found in common-size FMR1 alleles.

Curlis Y, Zhang C, Holden JJ, Loesch PK, Mitchell RJ.

Hum Biol. 2005 Feb;77(1):137-51.

PMID:
16114822
[PubMed - indexed for MEDLINE]
7.

Apparent regression of the CGG repeat in FMR1 to an allele of normal size.

Vits L, De Boulle K, Reyniers E, Handig I, Darby JK, Oostra B, Willems PJ.

Hum Genet. 1994 Nov;94(5):523-6.

PMID:
7959688
[PubMed - indexed for MEDLINE]
8.

Expansion of an FMR1 grey-zone allele to a full mutation in two generations.

Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F.

J Mol Diagn. 2009 Jul;11(4):306-10. doi: 10.2353/jmoldx.2009.080174. Epub 2009 Jun 12.

PMID:
19525339
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Mosaicism for an FMR1 gene deletion in a fragile X female.

Fan H, Booker JK, McCandless SE, Shashi V, Fleming A, Farber RA.

Am J Med Genet A. 2005 Jul 15;136(2):214-7.

PMID:
15940701
[PubMed - indexed for MEDLINE]
12.

Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.

Larsen LA, Vuust J, Nystad M, Evseeva I, Van Ghelue M, Tranebjaerg L.

Eur J Hum Genet. 2001 Sep;9(9):724-7.

PMID:
11571563
[PubMed - indexed for MEDLINE]
Free Article
13.

Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.

Väisänen ML, Haataja R, Leisti J.

Am J Hum Genet. 1996 Sep;59(3):540-6.

PMID:
8751854
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.

Milà M, Castellví-Bel S, Sánchez A, Lázaro C, Villa M, Estivill X.

J Med Genet. 1996 Apr;33(4):338-40.

PMID:
8730293
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles.

Dombrowski C, Lévesque S, Morel ML, Rouillard P, Morgan K, Rousseau F.

Hum Mol Genet. 2002 Feb 15;11(4):371-8.

PMID:
11854169
[PubMed - indexed for MEDLINE]
Free Article
17.

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL.

Am J Hum Genet. 2003 Feb;72(2):454-64. Epub 2003 Jan 14.

PMID:
12529854
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

Milewski M, Zygulska M, Bal J, Deelen WH, Obersztyn E, Bocian E, Halley DJ, Horst J, Mazurczak T.

Acta Biochim Pol. 1996;43(2):383-8.

PMID:
8862184
[PubMed - indexed for MEDLINE]
Free Article
20.

Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.

Larsen LA, Armstrong JS, Grønskov K, Hjalgrim H, Brøndum-Nielsen K, Hasholt L, Nørgaard-Pedersen B, Vuust J.

Eur J Hum Genet. 1999 Oct-Nov;7(7):771-7.

PMID:
10573009
[PubMed - indexed for MEDLINE]
Free Article

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