Read AP - Search Results

1

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al. Wilson LC, et al. Among authors: read ap. Am J Hum Genet. 1995 Feb;56(2):400-7. Am J Hum Genet. 1995. PMID: 7847374 Free PMC article.

2

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read AP. Tassabehji M, et al. Among authors: read ap. Hum Mol Genet. 1994 Jul;3(7):1069-74. doi: 10.1093/hmg/3.7.1069. Hum Mol Genet. 1994. PMID: 7981674

3

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.

Foy C, Newton V, Wellesley D, Harris R, Read AP. Foy C, et al. Among authors: read ap. Am J Hum Genet. 1990 Jun;46(6):1017-23. Am J Hum Genet. 1990. PMID: 2339698 Free PMC article.

4

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, Reardon W, Splitt M, Read AP, Donnai D. Tassabehji M, et al. Among authors: read ap. Am J Hum Genet. 1999 Jan;64(1):118-25. doi: 10.1086/302214. Am J Hum Genet. 1999. PMID: 9915950 Free PMC article.

5

Patterns of exon deletions in Duchenne and Becker muscular dystrophy.

Read AP, Mountford RC, Forrest SM, Kenwrick SJ, Davies KE, Harris R. Read AP, et al. Hum Genet. 1988 Oct;80(2):152-6. doi: 10.1007/BF00702859. Hum Genet. 1988. PMID: 3169738

6

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.

Liu XZ, Newton VE, Read AP. Liu XZ, et al. Among authors: read ap. Am J Med Genet. 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. Am J Med Genet. 1995. PMID: 7702105 Review.

7

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

Hughes AE, Newton VE, Liu XZ, Read AP. Hughes AE, et al. Among authors: read ap. Nat Genet. 1994 Aug;7(4):509-12. doi: 10.1038/ng0894-509. Nat Genet. 1994. PMID: 7951321

8

Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Donnai D, Mountford RC, Read AP. Donnai D, et al. Among authors: read ap. J Med Genet. 1988 Feb;25(2):73-8. doi: 10.1136/jmg.25.2.73. J Med Genet. 1988. PMID: 3162283 Free PMC article.

9

A complete physical contig and partial transcript map of the Williams syndrome critical region.

Hockenhull EL, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M. Hockenhull EL, et al. Among authors: read ap. Genomics. 1999 Jun 1;58(2):138-45. doi: 10.1006/geno.1999.5815. Genomics. 1999. PMID: 10366445

10

Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity.

Wu CL, Sloan P, Read AP, Harris R, Thakker N. Wu CL, et al. Among authors: read ap. Cancer Res. 1994 Dec 15;54(24):6484-8. Cancer Res. 1994. PMID: 7987846

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