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 …
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 …
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 …
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 …
(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 …
detecting gross deletions or duplications of DNA sequences, aberrations which are …
Ploidy and size at multiple scales in the Arabidopsis sepal
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 …
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 …
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 …
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 …
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 …
usually resolves in the first 6 months of life but which predisposes to type 2 diabetes of adult …