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D Blaydon

Explore the profile of D Blaydon including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 4
Citations 228
Followers 0
Related Specialty
Genetics
Top 10 Co-Authors
X Z Liu
S Malcolm
M Bitner-Glindzicz
P Warwicker
R M Shepherd
J Furth-Lavi
J Hill
P J Milla
T Hutchin
J A Goodship
Published In
Am J Hum Genet
Clin Genet
Nat Genet
Hum Mutat
Affiliations
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Recent Articles
1.
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing
Hutchin T, Coy N, Conlon H, Telford E, Bromelow K, Blaydon D, et al.
Clin Genet . 2005 Nov; 68(6):506-12. PMID: 16283880
Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified....
2.
Fabry disease: 20 novel GLA mutations in 35 families
Blaydon D, Hill J, Winchester B
Hum Mutat . 2001 Oct; 18(5):459. PMID: 11668641
Thirty two mutations have been found in 35 unrelated patients of European origin with Fabry disease, including 8 females. Twenty of the mutations are novel and comprise of 13 missense:...
3.
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
Bitner-Glindzicz M, Lindley K, Rutland P, Blaydon D, Smith V, Milla P, et al.
Nat Genet . 2000 Sep; 26(1):56-60. PMID: 10973248
Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the...
4.
Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1
Feather S, Malcolm S, Woolf A, WRIGHT V, Blaydon D, Reid C, et al.
Am J Hum Genet . 2000 Mar; 66(4):1420-5. PMID: 10739767
Primary vesicoureteric reflux (VUR) affects 1%-2% of whites, and reflux nephropathy (RN) causes up to 15% of end-stage renal failure in children and adults. There is a 30-50-fold increased incidence...