Warwick L - Search Results

1

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.

White SL, Shanske S, Biros I, Warwick L, Dahl HM, Thorburn DR, Di Mauro S. White SL, et al. Among authors: warwick l. Prenat Diagn. 1999 Dec;19(12):1165-8. Prenat Diagn. 1999. PMID: 10590437

2

Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib.

Boneh A, Auldist AW, Francis DE, Casanelia S, Warwick L, Tiedemann K. Boneh A, et al. Among authors: warwick l. J Inherit Metab Dis. 2001 Jun;24(3):419-21. doi: 10.1023/a:1010585425473. J Inherit Metab Dis. 2001. PMID: 11486913 No abstract available.

3

Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate.

Pitt JJ, Hawkins R, Cleary M, Eggington M, Thorburn DR, Warwick L. Pitt JJ, et al. Among authors: warwick l. J Inherit Metab Dis. 1997 Mar;20(1):39-42. doi: 10.1023/a:1005353305705. J Inherit Metab Dis. 1997. PMID: 9061565

4

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

Whiley PJ, Parsons MT, Leary J, Tucker K, Warwick L, Dopita B, Thorne H, Lakhani SR, Goldgar DE, Brown MA, Spurdle AB. Whiley PJ, et al. Among authors: warwick l. PLoS One. 2014 Jan 28;9(1):e86836. doi: 10.1371/journal.pone.0086836. eCollection 2014. PLoS One. 2014. PMID: 24489791 Free PMC article.

5

Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities.

Anderson PJ, Wood SJ, Francis DE, Coleman L, Warwick L, Casanelia S, Anderson VA, Boneh A. Anderson PJ, et al. Among authors: warwick l. Dev Med Child Neurol. 2004 Apr;46(4):230-8. doi: 10.1017/s0012162204000386. Dev Med Child Neurol. 2004. PMID: 15077700

6

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.

Parsons MT, Whiley PJ, Beesley J, Drost M, de Wind N, Thompson BA, Marquart L, Hopper JL, Jenkins MA; Australasian Colorectal Cancer Family Registry, Brown MA, Tucker K, Warwick L, Buchanan DD, Spurdle AB. Parsons MT, et al. Among authors: warwick l. Mol Carcinog. 2015 Jul;54(7):513-22. doi: 10.1002/mc.22116. Epub 2013 Dec 2. Mol Carcinog. 2015. PMID: 24302565 Free PMC article.

7

Breast and ovarian cancer referrals to the ACT Genetic Service: are we meeting guidelines?

Aitken L, Warwick L, Davis A. Aitken L, et al. Among authors: warwick l. Intern Med J. 2017 Mar;47(3):311-317. doi: 10.1111/imj.13357. Intern Med J. 2017. PMID: 28019080

8

Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families.

Healey E, Taylor N, Greening S, Wakefield CE, Warwick L, Williams R, Tucker K. Healey E, et al. Among authors: warwick l. Genet Med. 2017 Dec;19(12):1323-1331. doi: 10.1038/gim.2017.52. Epub 2017 May 11. Genet Med. 2017. PMID: 28492536 Free article.

9

A Relational Approach to Genetic Counseling for Hereditary Breast and Ovarian Cancer.

Forbes Shepherd R, Browne TK, Warwick L. Forbes Shepherd R, et al. Among authors: warwick l. J Genet Couns. 2017 Apr;26(2):283-299. doi: 10.1007/s10897-016-0022-2. Epub 2016 Oct 19. J Genet Couns. 2017. PMID: 27761849

10

Unintended diagnosis of Von Hippel Lindau syndrome using Array Comparative Genomic Hybridization (CGH): counseling challenges arising from unexpected information.

Hogan J, Turner A, Tucker K, Warwick L. Hogan J, et al. Among authors: warwick l. J Genet Couns. 2013 Feb;22(1):22-6. doi: 10.1007/s10897-012-9520-z. Epub 2012 Aug 16. J Genet Couns. 2013. PMID: 22895882

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