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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
TLDR
CDKL5 is confirmed as another locus associated with epilepsy and X-linked mental retardation and suggested that mutations in CDKL 5 can lead to a clinical phenotype that overlaps RTT, however, it remains to be determined whether CDkL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations. Expand
Primary structure of a human glandular kallikrein gene.
TLDR
If hGK-1 is expressed, its product represents a new, and possibly the only other enzyme with true kallikrein-like specificity in man, which is very different from mouse and rat, which each have a large multigene family. Expand
Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-α gene and their associations with multiple sclerosis
TLDR
Amplification and DNA sequencing of the IL-7Rα gene in pooled and individual samples identified 13 single nucleotide polymorphisms (SNPs), 11 of which are novel, including three in the promoter region, three in exons encoding amino-acid changes, and four in introns and one in the 3′ untranslated region. Expand
RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution
TLDR
A new locus‐specific database, RettBASE, is developed, allowing the development of accurate prevalence data for disease‐causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype–genotype correlations to be drawn. Expand
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
TLDR
All MCAD patients identified by newborn screening have, by definition, a functional defect and require careful clinical management and could influence the advice given to parents of babies with MCAD detected by newborn screened, and make management more specific. Expand
Guidelines for the genetic diagnosis of hereditary recurrent fevers
TLDR
An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance. Expand
Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients
TLDR
The results suggest that the CTLA-4 +49 alone is not associated with overall susceptibility to MS, but may be important in clinical subsets of patients and/or may interact epistatically with other gene polymorphisms. Expand
Effects of MECP2 mutation type, location and X‐inactivation in modulating Rett syndrome phenotype
TLDR
A composite phenotype score was developed, based on the recommendations for reporting clinical features in RTT of an international collaborative group, which proved useful for summarising phenotypic severity, but did not correlate with mutation type, domain affected or X‐inactivation. Expand
Association between PON 1 polymorphisms, PON activity and diabetes complications.
TLDR
It is hypothesised that PON 1 genotypes influence paraoxonase activity levels and increase the risk of microvascular disease in type 1 diabetes. Expand
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