Read AP - Search Results

1

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. Dixon MJ, et al. Among authors: read ap. Am J Hum Genet. 1991 Jul;49(1):17-22. Am J Hum Genet. 1991. PMID: 1676560 Free PMC article.

2

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis.

Toomes C, Jackson A, Maguire K, Wood J, Gollin S, Ishwad C, Paterson I, Prime S, Parkinson K, Bell S, Woods G, Markham A, Oliver R, Woodward R, Sloan P, Dixon M, Read A, Thakker N. Toomes C, et al. Genes Chromosomes Cancer. 2003 Jun;37(2):132-40. doi: 10.1002/gcc.10191. Genes Chromosomes Cancer. 2003. PMID: 12696061

3

Molecular genetics in the National Health Service in Britain.

Harris R, Elles R, Craufurd D, Dodge A, Ivinson A, Hodgkinson K, Mountford R, Schwartz M, Strachan T, Read A. Harris R, et al. J Med Genet. 1989 Apr;26(4):219-25. doi: 10.1136/jmg.26.4.219. J Med Genet. 1989. PMID: 2523972 Free PMC article.

4

True telomeric translocation in a baby with the Prader-Willi phenotype.

Reeve A, Norman A, Sinclair P, Whittington-Smith R, Hamey Y, Donnai D, Read A. Reeve A, et al. Am J Med Genet. 1993 Aug 1;47(1):1-6. doi: 10.1002/ajmg.1320470102. Am J Med Genet. 1993. PMID: 8368237

5

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. DeStefano AL, et al. Among authors: read ap. Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732. Hum Genet. 1998. PMID: 9654197

6

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP. Tassabehji M, et al. Among authors: read ap. Hum Mol Genet. 1997 Jul;6(7):1029-36. doi: 10.1093/hmg/6.7.1029. Hum Mol Genet. 1997. PMID: 9215671

7

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T. Tassabehji M, et al. Among authors: read ap. Nat Genet. 1993 Jan;3(1):26-30. doi: 10.1038/ng0193-26. Nat Genet. 1993. PMID: 8490648

8

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

Tassabehji M, Newton VE, Read AP. Tassabehji M, et al. Among authors: read ap. Nat Genet. 1994 Nov;8(3):251-5. doi: 10.1038/ng1194-251. Nat Genet. 1994. PMID: 7874167

9

Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register.

Elles RG, Hodgkinson KA, Mallick NP, O'Donoghue DJ, Read AP, Rimmer S, Watters EA, Harris R. Elles RG, et al. Among authors: read ap. J Med Genet. 1994 Feb;31(2):115-20. doi: 10.1136/jmg.31.2.115. J Med Genet. 1994. PMID: 8182715 Free PMC article.

10

Mapping of the X linked form of hyper IgM syndrome (HIGM1).

Padayachee M, Levinsky RJ, Kinnon C, Finn A, McKeown C, Feighery C, Notarangelo LD, Hendriks RW, Read AP, Malcolm S. Padayachee M, et al. Among authors: read ap. J Med Genet. 1993 Mar;30(3):202-5. doi: 10.1136/jmg.30.3.202. J Med Genet. 1993. PMID: 8097258 Free PMC article.

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