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Items: 1 to 20 of 22


Immortalized Parkinson's disease lymphocytes have enhanced mitochondrial respiratory activity.

Annesley SJ, Lay ST, De Piazza SW, Sanislav O, Hammersley E, Allan CY, Francione LM, Bui MQ, Chen ZP, Ngoei KR, Tassone F, Kemp BE, Storey E, Evans A, Loesch DZ, Fisher PR.

Dis Model Mech. 2016 Nov 1;9(11):1295-1305. Epub 2016 Sep 16.


Common Genetic Variants Influence Whorls in Fingerprint Patterns.

Ho YY, Evans DM, Montgomery GW, Henders AK, Kemp JP, Timpson NJ, St Pourcain B, Heath AC, Madden PA, Loesch DZ, McNevin D, Daniel R, Davey-Smith G, Martin NG, Medland SE.

J Invest Dermatol. 2016 Apr;136(4):859-62. doi: 10.1016/j.jid.2015.10.062. Epub 2015 Nov 18. No abstract available.


Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion.

Loesch DZ, Bui MQ, Hammersley E, Schneider A, Storey E, Stimpson P, Burgess T, Francis D, Slater H, Tassone F, Hagerman RJ, Hessl D.

Clin Genet. 2015 Feb;87(2):173-8. doi: 10.1111/cge.12347. Epub 2014 Feb 17.


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. Epub 2013 Jan 10.


FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.

Godler DE, Slater HR, Bui QM, Ono M, Gehling F, Francis D, Amor DJ, Hopper JL, Hagerman R, Loesch DZ.

J Mol Diagn. 2011 Sep;13(5):528-36. doi: 10.1016/j.jmoldx.2011.05.006. Epub 2011 Jun 30.


White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism.

Loesch DZ, Kotschet K, Trost N, Greco CM, Kinsella G, Slater HR, Venn A, Horne M.

Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):502-6. doi: 10.1002/ajmg.b.31189. Epub 2011 Mar 28.


Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.

Loesch DZ, Godler DE, Evans A, Bui QM, Gehling F, Kotschet KE, Trost N, Storey E, Stimpson P, Kinsella G, Francis D, Thorburn DR, Venn A, Slater HR, Horne M.

Genet Med. 2011 May;13(5):392-9. doi: 10.1097/GIM.0b013e3182064362.


Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

Godler DE, Slater HR, Amor D, Loesch DZ.

Genet Med. 2010 Sep;12(9):595. doi: 10.1097/GIM.0b013e3181f07088. No abstract available.


Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Godler DE, Tassone F, Loesch DZ, Taylor AK, Gehling F, Hagerman RJ, Burgess T, Ganesamoorthy D, Hennerich D, Gordon L, Evans A, Choo KH, Slater HR.

Hum Mol Genet. 2010 Apr 15;19(8):1618-32. doi: 10.1093/hmg/ddq037. Epub 2010 Jan 29.


Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.

Loesch DZ, Khaniani MS, Slater HR, Rubio JP, Bui QM, Kotschet K, D'Souza W, Venn A, Kalitsis P, Choo AK, Burgess T, Johnson L, Evans A, Horne M.

Clin Genet. 2009 Nov;76(5):471-6. doi: 10.1111/j.1399-0004.2009.01275.x. Epub 2009 Sep 30.


Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

Loesch DZ, Godler DE, Khaniani M, Gould E, Gehling F, Dissanayake C, Burgess T, Tassone F, Huggins R, Slater H, Choo KH.

Am J Med Genet A. 2009 Oct;149A(10):2306-10. doi: 10.1002/ajmg.a.32990. No abstract available.


Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders.

Godler DE, Loesch DZ, Huggins R, Gordon L, Slater HR, Gehling F, Burgess T, Choo KH.

BMC Clin Pathol. 2009 Jun 9;9:5. doi: 10.1186/1472-6890-9-5.


Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1.

Medland SE, Loesch DZ, Mdzewski B, Zhu G, Montgomery GW, Martin NG.

PLoS Genet. 2007 Sep;3(9):1736-44.


Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X.

Loesch DZ, Bui QM, Dissanayake C, Clifford S, Gould E, Bulhak-Paterson D, Tassone F, Taylor AK, Hessl D, Hagerman R, Huggins RM.

Neurosci Biobehav Rev. 2007;31(3):315-26. Epub 2006 Nov 9. Review.


Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.

Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F.

J Med Genet. 2007 Mar;44(3):200-4. Epub 2006 Aug 11.


Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.

Loesch DZ, Huggins R, Petrovic V, Slater H.

Am J Hum Genet. 1995 Dec;57(6):1408-13.


FRAXE and mental retardation.

Mulley JC, Yu S, Loesch DZ, Hay DA, Donnelly A, Gedeon AK, Carbonell P, López I, Glover G, Gabarrón I, et al.

J Med Genet. 1995 Mar;32(3):162-9.


Genotype-phenotype relationships in fragile X syndrome: a family study.

Loesch DZ, Huggins R, Hay DA, Gedeon AK, Mulley JC, Sutherland GR.

Am J Hum Genet. 1993 Nov;53(5):1064-73.

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