V Van Heyningen
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Explore the profile of V Van Heyningen including associated specialties, affiliations and a list of published articles.
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148
Citations
3937
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Recent Articles
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Guy K, Van Heyningen V
Immunol Today
. 2014 Oct;
4(7):186-9.
PMID: 25289823
Studies with monoclonal antibodies confirm that human MHC class-II antigens are encoded by at least three pairs of loci. Here Keith Guy and Veronica van Heyningen suggest that as B...
3.
Fantes J, Boland E, Ramsay J, Donnai D, Splitt M, Goodship J, et al.
Am J Hum Genet
. 2008 Apr;
82(4):916-26.
PMID: 18374296
We report fluorescence in situ hybridization (FISH) mapping of 152, mostly de novo, apparently balanced chromosomal rearrangement (ABCR) breakpoints in 76 individuals, 30 of whom had no obvious phenotypic abnormality...
4.
Hever A, Williamson K, Van Heyningen V
Clin Genet
. 2006 May;
69(6):459-70.
PMID: 16712695
Eye development initiates as an evagination of the early neural plate, before the closure of the neural tube. Structural malformations of the eye such as anophthalmia and microphthalmia arise very...
5.
Thompson P, Mitchell T, Free S, Williamson K, Hanson I, Van Heyningen V, et al.
Neurology
. 2004 Apr;
62(7):1216-8.
PMID: 15079031
Fourteen patients with PAX6 gene mutations and previously identified MRI abnormalities were administered tests of cognitive functioning. No deficits were found. A subgroup with agenesis of the anterior commissure performed...
6.
Morrison D, Fitzpatrick D, Hanson I, Williamson K, Van Heyningen V, Fleck B, et al.
J Med Genet
. 2002 Feb;
39(1):16-22.
PMID: 11826019
We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January...
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Kleinjan D, Seawright A, Schedl A, Quinlan R, Danes S, Van Heyningen V
Hum Mol Genet
. 2001 Oct;
10(19):2049-59.
PMID: 11590122
The transcription factor PAX6 plays a critical, evolutionarily conserved role in eye, brain and olfactory development. Homozygous loss of PAX6 function affects all expressing tissues and is neonatally lethal; heterozygous...
9.
Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, et al.
Clin Genet
. 2001 Sep;
60(2):151-4.
PMID: 11553050
Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital...
10.
Sisodiya S, Free S, Williamson K, Mitchell T, Willis C, Stevens J, et al.
Nat Genet
. 2001 Jun;
28(3):214-6.
PMID: 11431688
PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye. Magnetic resonance imaging (MRI)...