Gardner RJ - Search Results

1

The clinical correlates of a 3' truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene.

Gardner RJ, Kool D, Edkins E, Walpole IR, Macrae FA, Nasioulas S, Scott WJ. Gardner RJ, et al. Gastroenterology. 1997 Jul;113(1):326-31. doi: 10.1016/s0016-5085(97)70111-2. Gastroenterology. 1997. PMID: 9207294

2

Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.

Distante S, Nasioulas S, Somers GR, Cameron DJ, Young MA, Forrest SM, Gardner RJ. Distante S, et al. Among authors: gardner rj. J Med Genet. 1996 Feb;33(2):157-60. doi: 10.1136/jmg.33.2.157. J Med Genet. 1996. PMID: 8929955 Free PMC article.

3

E-cadherin unlikely to be a common "low penetrance" gene for colorectal cancer.

Gardner RJ, Gaff CL, Macrae FA, St John DJ, Hopkins J, Guilford PJ, Reeve AE. Gardner RJ, et al. Am J Med Genet. 1999 May 21;84(2):169-71. Am J Med Genet. 1999. PMID: 10323744 No abstract available.

4

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

Smith MJ, Gardner RJ, Knight MA, Forrest SM, Beyreuther K, Storey E, McLean CA, Cotton RG, Cappal R, Masters CL. Smith MJ, et al. Among authors: gardner rj. Neuroreport. 1999 Feb 25;10(3):503-7. doi: 10.1097/00001756-199902250-00011. Neuroreport. 1999. PMID: 10208579

5

Connexin26 deafness in several interconnected families.

Wilcox SA, Osborn AH, Allen-Powell DR, Maw MA, Dahl HH, Gardner RJ. Wilcox SA, et al. Among authors: gardner rj. J Med Genet. 1999 May;36(5):383-5. J Med Genet. 1999. PMID: 10353784 Free PMC article.

6

The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.

McLean CA, Storey E, Gardner RJ, Tannenberg AE, Cervenáková L, Brown P. McLean CA, et al. Among authors: gardner rj. Neurology. 1997 Aug;49(2):552-8. doi: 10.1212/wnl.49.2.552. Neurology. 1997. PMID: 9270595

7

Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.

Delatycki MB, Paris D, Gardner RJ, Forshaw K, Nicholson GA, Nassif N, Williamson R, Forrest SM. Delatycki MB, et al. Among authors: gardner rj. J Med Genet. 1998 Sep;35(9):713-6. doi: 10.1136/jmg.35.9.713. J Med Genet. 1998. PMID: 9733027 Free PMC article.

8

Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness.

Dahl HH, Saunders K, Kelly TM, Osborn AH, Wilcox S, Cone-Wesson B, Wunderlich JL, Du Sart D, Kamarinos M, Gardner RJ, Dennehy S, Williamson R, Vallance N, Mutton P. Dahl HH, et al. Among authors: gardner rj. Med J Aust. 2001 Aug 20;175(4):191-4. doi: 10.5694/j.1326-5377.2001.tb143093.x. Med J Aust. 2001. PMID: 11587277

9

Clinical and genetic study of Friedreich ataxia in an Australian population.

Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM. Delatycki MB, et al. Among authors: gardner rj. Am J Med Genet. 1999 Nov 19;87(2):168-74. doi: 10.1002/(sici)1096-8628(19991119)87:2<168::aid-ajmg8>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10533031

10

Near-total absence of the cerebellum.

Gardner RJ, Coleman LT, Mitchell LA, Smith LJ, Harvey AS, Scheffer IE, Storey E, Nowotny MJ, Sloane RA, Lubitz L. Gardner RJ, et al. Neuropediatrics. 2001 Apr;32(2):62-8. doi: 10.1055/s-2001-13882. Neuropediatrics. 2001. PMID: 11414645

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