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Items: 1 to 20 of 39

1.

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.

Godler DE, Inaba Y, Shi EZ, Skinner C, Bui QM, Francis D, Amor DJ, Hopper JL, Loesch DZ, Hagerman RJ, Schwartz CE, Slater HR.

Hum Mol Genet. 2013 Apr 15;22(8):1516-24. doi: 10.1093/hmg/ddt002.

2.

STATISTICAL INFERENCE OF TRANSMISSION FIDELITY OF DNA METHYLATION PATTERNS OVER SOMATIC CELL DIVISIONS IN MAMMALS.

Fu AQ, Genereux DP, Stöger R, Laird CD, Stephens M.

Ann Appl Stat. 2010;4(2):871-892.

3.
5.

Hairpin-bisulfite PCR: assessing epigenetic methylation patterns on complementary strands of individual DNA molecules.

Laird CD, Pleasant ND, Clark AD, Sneeden JL, Hassan KM, Manley NC, Vary JC Jr, Morgan T, Hansen RS, Stöger R.

Proc Natl Acad Sci U S A. 2004 Jan 6;101(1):204-9.

6.

Genomic imprinting and position-effect variegation in Drosophila melanogaster.

Lloyd VK, Sinclair DA, Grigliatti TA.

Genetics. 1999 Apr;151(4):1503-16.

7.

Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome.

Naumova AK, Leppert M, Barker DF, Morgan K, Sapienza C.

Am J Hum Genet. 1998 Jun;62(6):1493-9.

8.
9.

X inactivation of the FMR1 fragile X mental retardation gene.

Kirchgessner CU, Warren ST, Willard HF.

J Med Genet. 1995 Dec;32(12):925-9.

10.
11.

Developmental timing and tissue specificity of heterochromatin-mediated silencing.

Lu BY, Bishop CP, Eissenberg JC.

EMBO J. 1996 Mar 15;15(6):1323-32.

12.

Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.

Reiss AL, Freund L, Abrams MT, Boehm C, Kazazian H.

Am J Hum Genet. 1993 May;52(5):884-94.

13.
14.

The genetics of retinoblastoma, revisited.

Naumova A, Sapienza C.

Am J Hum Genet. 1994 Feb;54(2):264-73.

15.

Allelic instability in mitosis: a unified model for dominant disorders.

Zheng CJ, Byers B, Moolgavkar SH.

Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):10178-82.

16.

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

McConkie-Rosell A, Lachiewicz AM, Spiridigliozzi GA, Tarleton J, Schoenwald S, Phelan MC, Goonewardena P, Ding X, Brown WT.

Am J Hum Genet. 1993 Oct;53(4):800-9.

17.

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B.

Am J Hum Genet. 1994 May;54(5):741-7.

18.

Genomic imprinting: mechanism and role in human pathology.

Tycko B.

Am J Pathol. 1994 Mar;144(3):431-43. Review.

19.

Simple tandem DNA repeats and human genetic disease.

Sutherland GR, Richards RI.

Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3636-41. Review.

20.

The fragile X premutation in carriers and its effect on mutation size in offspring.

Fisch GS, Snow K, Thibodeau SN, Chalifaux M, Holden JJ, Nelson DL, Howard-Peebles PN, Maddalena A.

Am J Hum Genet. 1995 May;56(5):1147-55.

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