J. Pearn

Publications588
h-index41
Citations6,901
Highly Influential Citations166
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  • Publications
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Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.
  • J. Pearn
  • Medicine
    Journal of medical genetics
  • 1 December 1978
TLDR
A total population study of chronic childhood spinal muscular atrophy was undertaken in north-east England to establish gene and carrier frequencies, incidence, and prevalence and a technique for estimating an autosomal recessive gene frequency in the known presence of dominant new mutations (or phenocopies).
View on BMJ
Neurology of ciguatera.
  • J. Pearn
  • Medicine
    Journal of neurology, neurosurgery, and…
  • 2001
TLDR
The early identification of the neurological features in sentinel patients has the potential to reduce the number of secondary cases in cluster outbreaks and the early administration of intravenous mannitol.
View on PubMed
Ciguatera in Australia. Occurrence, clinical features, pathophysiology and management.
TLDR
Ciguatera is a type of food poisoning that results from eating certain tropical fish which have become toxic, and it seems restricted to certain areas around the Australian coastline.
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CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
TLDR
The classification of the spinal muscular atrophies presented provides the differential diagnosis for newly presenting cases and identifies seven different SMA syndromes; thirteen mutant genes are incriminated.
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Ciguatera and mannitol: experience with a new treatment regimen.
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Survival in trisomy 18: Life tables for use in genetic counselling and clinical paediatrics
TLDR
A total population study over 10 years based on a primary population of 2.2 million to generate life tables for Trisomy 18 finds that the annual incidence is 14 per 100,000 total births, with a prevalence estimate of 0.06 per 100 the000 total population.
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Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke–Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas…
TLDR
The absence of firm genotype–phenotype correlations and the existence of a subset of patients with BSS/MFT who lack a demonstrable germline CYLD mutation are confirmed and the variability of somatic mutations that may occur in them are documents.
View on Wolters Kluwer
Drowning for love: the aquatic victim‐instead‐of‐rescuer syndrome: drowning fatalities involving those attempting to rescue a child
Introduction:  Non‐intentional child drowning remains a leading cause of child mortality. A related and secondary syndrome is composed of those who drown in impulsive, altruistic attempts to go to…
View on Wiley
Ciguatera poisoning: an example of a public health challenge
  • J. Ting, A. Brown, J. Pearn
  • Political Science, Medicine
    Australian and New Zealand journal of public…
  • 1 January 1998
Abstract: Ciguatera is a common form of fish poisoning, endemic in all nations of the Pacific region Several thousand cases have been notified tc Queensland authorities over a 10‐year period However,…
View on Wiley
CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
View on Elsevier
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