Louise E. Docherty

发表

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients

A. Hattersley, S. Ellard, I. Temple, 2013, Diabetologia.

Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes

David I. Wilson, I. Temple, J. Holloway, 2014, Journal of Medical Genetics.

Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci

Z. Tümer, C. Acerini, O. Kordonouri, 2013, Diabetes Care.

Transient Neonatal Diabetes , ZFP 57 , and Hypomethylation ofMultiple Imprinted Loci A detailed follow-up

Ahmed, Susanne, Lise, 2012 .

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

H E White, W. Tapper, J. Dumanski, 2015, Leukemia.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

R. Siebert, S. Mehta, T. Eggermann, 2018, Journal of Medical Genetics.

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

I. Temple, A. Caliebe, D. Mackay, 2013, American journal of medical genetics. Part A.

An atypical case of hypomethylation at multiple imprinted loci

S. Mansour, E. Baple, I. Temple, 2011, European Journal of Human Genetics.

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

S. Mehta, S. Mansour, I. Temple, 2010, European Journal of Human Genetics.

Evaluating parent-child group music therapy programmes: Challenges and successes for Sing and Grow

J. Nicholson, D. Berthelsen, K. Williams, 2011 .

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

T. Eggermann, S. Mansour, I. Temple, 2015, Nature Communications.

A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy

S. Wells, S. Bhattacharya, H. Watkins, 2010, PLoS genetics.

Identification and characterisation of novel small RNAs from repetitive elements in mammals

L. Docherty, Louise E. Docherty, 2007 .

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

I. Temple, C. Gicquel, D. Mackay, 2011, European Journal of Human Genetics.