van Heyningen V - Search Results

1

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR. Rainger J, et al. Among authors: van heyningen v. Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005. Am J Hum Genet. 2014. PMID: 24906020 Free PMC article.

2

Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups.

Sherrington PD, Forster A, Seawright A, van Heyningen V, Rabbitts TH. Sherrington PD, et al. Among authors: van heyningen v. Genes Chromosomes Cancer. 1992 Nov;5(4):404-6. doi: 10.1002/gcc.2870050417. Genes Chromosomes Cancer. 1992. PMID: 1283330

3

The human PAX6 gene is mutated in two patients with aniridia.

Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, van Heyningen V. Jordan T, et al. Among authors: van heyningen v. Nat Genet. 1992 Aug;1(5):328-32. doi: 10.1038/ng0892-328. Nat Genet. 1992. PMID: 1302030

4

Equivalent expression of paternally and maternally inherited WT1 alleles in normal fetal tissue and Wilms' tumours.

Little MH, Dunn R, Byrne JA, Seawright A, Smith PJ, Pritchard-Jones K, van Heyningen V, Hastie ND. Little MH, et al. Among authors: van heyningen v. Oncogene. 1992 Apr;7(4):635-41. Oncogene. 1992. PMID: 1314367

5

Modulation of DNA binding specificity by alternative splicing of the Wilms tumor wt1 gene transcript.

Bickmore WA, Oghene K, Little MH, Seawright A, van Heyningen V, Hastie ND. Bickmore WA, et al. Among authors: van heyningen v. Science. 1992 Jul 10;257(5067):235-7. doi: 10.1126/science.1321494. Science. 1992. PMID: 1321494

6

The human BDNF gene maps between FSHB and HVBS1 at the boundary of 11p13-p14.

Hanson IM, Seawright A, van Heyningen V. Hanson IM, et al. Among authors: van heyningen v. Genomics. 1992 Aug;13(4):1331-3. doi: 10.1016/0888-7543(92)90060-6. Genomics. 1992. PMID: 1505967

7

Use of catalase polymorphisms in the study of sporadic aniridia.

Boyd P, van Heyningen V, Seawright A, Fekete G, Hastie N. Boyd P, et al. Among authors: van heyningen v. Hum Genet. 1986 Jun;73(2):171-4. doi: 10.1007/BF00291609. Hum Genet. 1986. PMID: 3013756

8

Towards an understanding of Wilms' tumour.

Williamson KA, Van Heyningen V. Williamson KA, et al. Among authors: van heyningen v. Int J Exp Pathol. 1994 Jun;75(3):147-55. Int J Exp Pathol. 1994. PMID: 8086311 Free PMC article. Review.

9

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V. Hanson IM, et al. Among authors: van heyningen v. Nat Genet. 1994 Feb;6(2):168-73. doi: 10.1038/ng0294-168. Nat Genet. 1994. PMID: 8162071

10

PAX6 mutations in aniridia.

Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V. Hanson IM, et al. Among authors: van heyningen v. Hum Mol Genet. 1993 Jul;2(7):915-20. doi: 10.1093/hmg/2.7.915. Hum Mol Genet. 1993. PMID: 8364574

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