Amor DJ - Search Results

1

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Godler DE, Inaba Y, Schwartz CE, Bui QM, Shi EZ, Li X, Herlihy AS, Skinner C, Hagerman RJ, Francis D, Amor DJ, Metcalfe SA, Hopper JL, Slater HR. Godler DE, et al. Among authors: amor dj. Expert Rev Mol Med. 2015 Jul 1;17:e13. doi: 10.1017/erm.2015.11. Expert Rev Mol Med. 2015. PMID: 26132880 Free PMC article. Review.

2

High frequency of t(12;21) in childhood acute lymphoblastic leukemia detected by RT-PCR.

Amor DJ, Algar EM, Slater HR, Smith PJ. Amor DJ, et al. Pathology. 1998 Nov;30(4):381-5. doi: 10.1080/00313029800169666. Pathology. 1998. PMID: 9839313

3

Human centromere repositioning "in progress".

Amor DJ, Bentley K, Ryan J, Perry J, Wong L, Slater H, Choo KH. Amor DJ, et al. Proc Natl Acad Sci U S A. 2004 Apr 27;101(17):6542-7. doi: 10.1073/pnas.0308637101. Epub 2004 Apr 14. Proc Natl Acad Sci U S A. 2004. PMID: 15084747 Free PMC article.

4

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. Among authors: amor dj. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223

5

Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.

Yeung A, Francis D, Giouzeppos O, Amor DJ. Yeung A, et al. Among authors: amor dj. Am J Med Genet A. 2009 Mar;149A(3):505-9. doi: 10.1002/ajmg.a.32664. Am J Med Genet A. 2009. PMID: 19215037

6

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.

Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, Amor DJ. Yeung A, et al. Among authors: amor dj. Eur J Med Genet. 2009 Nov-Dec;52(6):440-2. doi: 10.1016/j.ejmg.2009.09.004. Epub 2009 Sep 20. Eur J Med Genet. 2009. PMID: 19772934

7

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J. Bruno DL, et al. Among authors: amor dj. J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906. J Med Genet. 2010. PMID: 20452996

8

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.

McClaren BJ, Metcalfe SA, Aitken M, Massie RJ, Ukoumunne OC, Amor DJ. McClaren BJ, et al. Among authors: amor dj. Eur J Hum Genet. 2010 Oct;18(10):1084-9. doi: 10.1038/ejhg.2010.78. Epub 2010 May 26. Eur J Hum Genet. 2010. PMID: 20512163 Free PMC article.

9

A case for cystic fibrosis carrier testing in the general population.

McClaren BJ, Metcalfe SA, Amor DJ, Aitken M, Massie J. McClaren BJ, et al. Among authors: amor dj. Med J Aust. 2011 Feb 21;194(4):208-9. doi: 10.5694/j.1326-5377.2011.tb03781.x. Med J Aust. 2011. PMID: 21401469 No abstract available.

10

Phenotypic variability of distal 22q11.2 copy number abnormalities.

Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ. Tan TY, et al. Among authors: amor dj. Am J Med Genet A. 2011 Jul;155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671380

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