Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

DJG Mackay, JLA Callaway, SM Marks, HE White… - Nature …, 2008 - nature.com
We have previously described individuals presenting with transient neonatal diabetes and
showing a variable pattern of DNA hypomethylation at imprinted loci throughout the …

[PDF][PDF] Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

P Bakrania, M Efthymiou, JC Klein, A Salt… - The American Journal of …, 2008 - cell.com
Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are
heterogeneous disorders with frequent sporadic or non-Mendelian inheritance. Recurrent …

Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.

IK Temple, RJ Gardner, DJ Mackay, JC Barber… - Diabetes, 2000 - Am Diabetes Assoc
Transient neonatal diabetes (TND) is a rare type of diabetes that presents soon after birth,
resolves by 18 months, and predisposes to diabetes later in life. A total of 30 patients were …

An imprinted locus associated with transient neonatal diabetes mellitus

RJ Gardner, DJG Mackay, AJ Mungall… - Human molecular …, 2000 - academic.oup.com
Recently, we reported the localization of a gene for transient neonatal diabetes mellitus
(TNDM), a rare form of childhood diabetes, to an∼ 5.4 Mb region of chromosome 6q24. We …

[HTML][HTML] Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

DJ Bunyan, DM Eccles, J Sillibourne, E Wilkins… - British journal of …, 2004 - nature.com
Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for
detecting gross deletions or duplications of DNA sequences, aberrations which are …

Ploidy and size at multiple scales in the Arabidopsis sepal

DO Robinson, JE Coate, A Singh, L Hong… - The Plant …, 2018 - academic.oup.com
Ploidy and size phenomena are observed to be correlated across several biological scales,
from subcellular to organismal. Two kinds of ploidy change can affect plants. Whole-genome …

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

DO Robinson, RJ Howarth… - American journal of …, 2008 - Wiley Online Library
A series of 125 patients referred primarily with aniridia classified as either sporadic (74),
familial (24), or in association with WAGR syndrome (14) or other malformations (13) was …

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

DJG Mackay, SE Boonen, J Clayton-Smith, J Goodship… - Human genetics, 2006 - Springer
The expression of imprinted genes is mediated by allele-specific epigenetic modification of
genomic DNA and chromatin, including parent of origin-specific DNA methylation …

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

P Bakrania, DO Robinson, DJ Bunyan, A Salt… - British Journal of …, 2007 - bjo.bmj.com
Background: Developmental eye anomalies, which include anophthalmia (absent eye) or
microphthalmia (small eye) are an important cause of severe visual impairment in infants …

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22–q23

IK Temple, RJ Gardner, DO Robinson… - Human molecular …, 1996 - academic.oup.com
Transient neonatal diabetes mellitus (TNDM) is a rare form of childhood diabetes which
usually resolves in the first 6 months of life but which predisposes to type 2 diabetes of adult …