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Items: 15

1.

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

Collins SC, Bray SM, Suhl JA, Cutler DJ, Coffee B, Zwick ME, Warren ST.

Am J Med Genet A. 2010 Oct;152A(10):2512-20. doi: 10.1002/ajmg.a.33626.

2.

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

Collins SC, Coffee B, Benke PJ, Berry-Kravis E, Gilbert F, Oostra B, Halley D, Zwick ME, Cutler DJ, Warren ST.

PLoS One. 2010 Mar 5;5(3):e9476. doi: 10.1371/journal.pone.0009476.

3.

Fragile X: a family of disorders.

Chonchaiya W, Schneider A, Hagerman RJ.

Adv Pediatr. 2009;56:165-86. doi: 10.1016/j.yapd.2009.08.008. Review. No abstract available.

4.

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST.

Am J Med Genet A. 2008 May 15;146A(10):1358-67. doi: 10.1002/ajmg.a.32261. Review.

5.

Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype.

Martínez R, Bonilla-Henao V, Jiménez A, Lucas M, Vega C, Ramos I, Sobrino F, Pintado E.

Mol Diagn. 2005;9(3):157-62.

PMID:
16271017
6.
7.

Single-strand conformation polymorphism analysis in the FMR1 gene.

Castellví-Bel S, Sánchez A, Badenas C, Mallolas J, Barceló A, Jiménez D, Villa M, Estivill X, Milà M.

Am J Med Genet. 1999 May 28;84(3):262-5.

PMID:
10331603
8.
9.

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Grønskov K, Hjalgrim H, Bjerager MO, Brøndum-Nielsen K.

Am J Hum Genet. 1997 Oct;61(4):961-7.

10.

Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome.

Wang YC, Lin ML, Lin SJ, Li YC, Li SY.

Hum Mutat. 1997;10(5):393-9.

PMID:
9375856
11.

Severe mental retardation and macroorchidism without mutation in the FMR1 gene.

Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, Kooy RF, Willems PJ.

Am J Med Genet. 1996 Aug 9;64(2):408-12. Review.

PMID:
8844093
12.

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
13.

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

Chiurazzi P, de Graaff E, Ng J, Verkerk AJ, Wolfson S, Fisch GS, Kozak L, Neri G, Oostra BA.

Am J Med Genet. 1994 Jul 15;51(4):309-14.

PMID:
7942992
14.

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.

Lugenbeel KA, Peier AM, Carson NL, Chudley AE, Nelson DL.

Nat Genet. 1995 Aug;10(4):483-5.

PMID:
7670500
15.

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, et al.

Cell. 1991 May 31;65(5):905-14.

PMID:
1710175
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