Bruno DL - Search Results

1

Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.

Northrop EL, Ren H, Bruno DL, McGhie JD, Coffa J, Schouten J, Choo KH, Slater HR. Northrop EL, et al. Among authors: bruno dl. Hum Mutat. 2005 Nov;26(5):477-86. doi: 10.1002/humu.20243. Hum Mutat. 2005. PMID: 16170807

2

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy.

Bruno DL, Burgess T, Ren H, Nouri S, Pertile MD, Francis DI, Norris F, Kenney BK, Schouten J, Andy Choo KH, Slater HR. Bruno DL, et al. Am J Med Genet A. 2006 Dec 15;140(24):2786-93. doi: 10.1002/ajmg.a.31552. Am J Med Genet A. 2006. PMID: 17106871

3

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

Bruno DL, Stark Z, Amor DJ, Burgess T, Butler K, Corrie S, Francis D, Ganesamoorthy D, Hills L, James PA, O'Rielly D, Oertel R, Savarirayan R, Prabhakara K, Salce N, Slater HR. Bruno DL, et al. Hum Mutat. 2011 Dec;32(12):1500-6. doi: 10.1002/humu.21581. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21850686

4

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.

Slater H, Bruno D, Ren H, La P, Burgess T, Hills L, Nouri S, Schouten J, Choo KH. Slater H, et al. Hum Mutat. 2004 Aug;24(2):164-71. doi: 10.1002/humu.20072. Hum Mutat. 2004. PMID: 15241798

5

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

Ganesamoorthy D, Bruno DL, Schoumans J, Storey E, Delatycki MB, Zhu D, Wei MK, Nicholson GA, McKinlay Gardner RJ, Slater HR. Ganesamoorthy D, et al. Among authors: bruno dl. Clin Chem. 2009 Jul;55(7):1415-8. doi: 10.1373/clinchem.2009.124958. Epub 2009 May 7. Clin Chem. 2009. PMID: 19423733

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. 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

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. 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

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: bruno dl. 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

9

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

Slater HR, Bruno DL, Ren H, Pertile M, Schouten JP, Choo KH. Slater HR, et al. Among authors: bruno dl. J Med Genet. 2003 Dec;40(12):907-12. doi: 10.1136/jmg.40.12.907. J Med Genet. 2003. PMID: 14684689 Free PMC article. No abstract available.

10

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.

Bruno DL, White SM, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Prabhakara K, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR. Bruno DL, et al. J Med Genet. 2011 Dec;48(12):831-9. doi: 10.1136/jmedgenet-2011-100372. Epub 2011 Oct 29. J Med Genet. 2011. PMID: 22039585

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