Caramins M - Search Results

1

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

James PA, Culling B, Mullan G, Jenkins M, Elakis G, Turner AM, Mowat DM, Wilson M, Anderson P, Savarirayan R, Cliffe ST, Caramins M, Buckley MF, Tucker K, Roscioli T. James PA, et al. Among authors: caramins m. Genes Chromosomes Cancer. 2009 Jul;48(7):533-8. doi: 10.1002/gcc.20661. Genes Chromosomes Cancer. 2009. PMID: 19373776

2

Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?

Rieubland C, Holmes AD, Caramins M, Roscioli T, Amor DJ. Rieubland C, et al. Among authors: caramins m. Am J Med Genet A. 2011 Jan;155A(1):233-4. doi: 10.1002/ajmg.a.33776. Am J Med Genet A. 2011. PMID: 21204239 No abstract available.

3

A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss.

Caramins MC, Saville T, Shakeshaft R, Mullan GL, Miller B, Yip MY, Buckley MF. Caramins MC, et al. Genet Med. 2011 Jan;13(1):46-51. doi: 10.1097/GIM.0b013e3181faa0d2. Genet Med. 2011. PMID: 21102343 Free article.

4

Approaches for classifying DNA variants found by Sanger sequencing in a medical genetics laboratory.

Cheong PL, Caramins M. Cheong PL, et al. Among authors: caramins m. Methods Mol Biol. 2014;1168:227-50. doi: 10.1007/978-1-4939-0847-9_13. Methods Mol Biol. 2014. PMID: 24870139 Review.

5

Genetically confirmed clinical Huntington's disease with no observable cell loss.

Caramins M, Halliday G, McCusker E, Trent RJ. Caramins M, et al. J Neurol Neurosurg Psychiatry. 2003 Jul;74(7):968-70. doi: 10.1136/jnnp.74.7.968. J Neurol Neurosurg Psychiatry. 2003. PMID: 12810795 Free PMC article.

6

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, Hackett EL, Freidin MM, Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA. Caramins M, et al. Hum Mol Genet. 2013 Nov 1;22(21):4329-38. doi: 10.1093/hmg/ddt282. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773993 Free PMC article.

7

Challenges for clinical genetic DNA testing.

Trent RJ, Yu B, Caramins M. Trent RJ, et al. Among authors: caramins m. Expert Rev Mol Diagn. 2004 Mar;4(2):201-8. doi: 10.1586/14737159.4.2.201. Expert Rev Mol Diagn. 2004. PMID: 14995906 Review.

8

Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

Yu B, Sawyer NA, Caramins M, Yuan ZG, Saunderson RB, Pamphlett R, Richmond DR, Jeremy RW, Trent RJ. Yu B, et al. Among authors: caramins m. J Clin Pathol. 2005 May;58(5):479-85. doi: 10.1136/jcp.2004.021642. J Clin Pathol. 2005. PMID: 15858117 Free PMC article.

9

Chronic lymphocytic leukaemia, monoclonal B-lymphocytosis and pregnancy: five cases, a literature review and discussion of management.

Hamad N, Kliman D, Best OG, Caramins M, Hertzberg M, Lindeman R, Porter R, Mulligan SP. Hamad N, et al. Among authors: caramins m. Br J Haematol. 2015 Feb;168(3):350-60. doi: 10.1111/bjh.13134. Epub 2014 Sep 25. Br J Haematol. 2015. PMID: 25256787 Free article. Review.

10

Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.

Kassahn KS, Scott HS, Caramins MC. Kassahn KS, et al. Among authors: caramins mc. Hum Mutat. 2014 Apr;35(4):413-23. doi: 10.1002/humu.22525. Epub 2014 Mar 6. Hum Mutat. 2014. PMID: 24510514 Review.

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