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V Van Heyningen

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Articles 148
Citations 3937
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Recent Articles
11.
Sherbotie J, Van Heyningen V, Axton R, Williamson K, Finn L, Kaplan B
Pediatr Nephrol . 2000 Oct; 14(12):1092-7. PMID: 11045393
The Denys-Drash syndrome is defined by the occurrence of combinations of pseudohermaphroditism, nephrotic syndrome with diffuse mesangial sclerosis, Wilms' tumor, and constitutional mutations in the WT1 suppressor gene. Most patients...
12.
Perveen R, Lloyd I, Clayton-Smith J, Churchill A, Van Heyningen V, Hanson I, et al.
Invest Ophthalmol Vis Sci . 2000 Aug; 41(9):2456-60. PMID: 10937553
Purpose: Rieger syndrome is an autosomal dominant condition characterized by a variable combination of anterior segment dysgenesis, dental anomalies, and umbilical hernia. To date, reports have shown mutations within the...
13.
Heyman I, Frampton I, Van Heyningen V, Hanson I, Teague P, Taylor A, et al.
Psychiatr Genet . 1999 Jul; 9(2):85-90. PMID: 10412187
The PAX family of developmental control genes are known to play important roles in the early patterning of the central nervous system. One member of this family, PAX6, is involved...
14.
Engelkamp D, Rashbass P, Seawright A, Van Heyningen V
Development . 1999 Jul; 126(16):3585-96. PMID: 10409504
Post-mitotic neurons generated at the rhombic lip undertake long distance migration to widely dispersed destinations, giving rise to cerebellar granule cells and the precerebellar nuclei. Here we show that Pax6,...
15.
Davies R, Moore A, Schedl A, BRATT E, Miyahawa K, Ladomery M, et al.
Cancer Res . 1999 Apr; 59(7 Suppl):1747s-1750s; discussion 1751s. PMID: 10197591
Wilms' tumor is a childhood kidney tumor that is a striking example of the way that cancer may arise through development gone awry. A proportion of these tumors develop as...
16.
Hanson I, Churchill A, Love J, Axton R, Moore T, Clarke M, et al.
Hum Mol Genet . 1999 Feb; 8(2):165-72. PMID: 9931324
Mutations of the human PAX6 gene underlie aniridia (congenital absence of the iris), a rare dominant malformation of the eye. The spectrum of PAX6 mutations in aniridia patients is highly...
17.
Borsani G, DEGRANDI A, Ballabio A, Bulfone A, Bernard L, Banfi S, et al.
Hum Mol Genet . 1999 Jan; 8(1):11-23. PMID: 9887327
We have isolated a family of four vertebrate genes homologous to eyes absent (eya), a key regulator of ocular development in Drosophila. Here we present the detailed characterization of the...
18.
Van Heyningen V
Clin Genet . 1998 Nov; 54(4):272-82. PMID: 9831337
No abstract available.
19.
Miles C, Elgar G, Coles E, Kleinjan D, Van Heyningen V, Hastie N
Proc Natl Acad Sci U S A . 1998 Oct; 95(22):13068-72. PMID: 9789042
The pufferfish Fugu rubripes has a genome approximately 7.5 times smaller than that of mammals but with a similar number of genes. Although conserved synteny has been demonstrated between pufferfish...
20.
Maalouf E, Ferguson J, Van Heyningen V, Modi N
Pediatr Nephrol . 1998 Sep; 12(6):449-51. PMID: 9745866
We report an unusual case of Denys-Drash syndrome presenting in a newborn infant with end-stage renal failure of antenatal origin and Potter phenotype. DNA analysis showed a novel missense change...