Amor DJ - Search Results

1

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.

Francis DI, Stark Z, Scheffer IE, Tan TY, Murali K, Gallacher L, Amor DJ, Goel H, Downie L, Stutterd CA, Krzesinski EI, Vasudevan A, Oertel R, Petrovic V, Boys A, Wei V, Burgess T, Dun K, Oliver KL, Baxter A, Hackett A, Ayres S, Lunke S, Kalitsis P, Wall M. Francis DI, et al. Among authors: amor dj. Eur J Hum Genet. 2023 May;31(5):521-525. doi: 10.1038/s41431-022-01232-5. Epub 2022 Nov 29. Eur J Hum Genet. 2023. PMID: 36446895 Free PMC article.

2

Building the centromere: from foundation proteins to 3D organization.

Amor DJ, Kalitsis P, Sumer H, Choo KH. Amor DJ, et al. Trends Cell Biol. 2004 Jul;14(7):359-68. doi: 10.1016/j.tcb.2004.05.009. Trends Cell Biol. 2004. PMID: 15246429 Review.

3

Juvenile papillomatosis of the breast associated with neurofibromatosis 1.

Tan TY, Amor DJ, Chow CW. Tan TY, et al. Among authors: amor dj. Pediatr Blood Cancer. 2007 Sep;49(3):363-4. doi: 10.1002/pbc.20956. Pediatr Blood Cancer. 2007. PMID: 16883593 No abstract available.

4

Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice.

Tan TY, Amor DJ. Tan TY, et al. Among authors: amor dj. J Paediatr Child Health. 2006 Sep;42(9):486-90. doi: 10.1111/j.1440-1754.2006.00908.x. J Paediatr Child Health. 2006. PMID: 16925531 Review.

5

Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome.

Tan TY, Amor DJ. Tan TY, et al. Among authors: amor dj. Am J Med Genet A. 2007 Jan 15;143A(2):114-8. doi: 10.1002/ajmg.a.31548. Am J Med Genet A. 2007. PMID: 17163533

6

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p.

Coman D, Bacic S, Boys A, Sparrow DB, Dunwoodie SL, Savarirayan R, Amor DJ. Coman D, et al. Among authors: amor dj. Am J Med Genet A. 2008 Aug 1;146A(15):1972-6. doi: 10.1002/ajmg.a.32299. Am J Med Genet A. 2008. PMID: 18627039

7

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

8

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

9

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

10

Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, Australia.

Tan TY, Amor DJ, Riley M, Halliday J, Kilpatrick N, Simms K, White SM. Tan TY, et al. Among authors: amor dj. Cleft Palate Craniofac J. 2009 Nov;46(6):583-7. doi: 10.1597/07-241.1. Cleft Palate Craniofac J. 2009. PMID: 19929084

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