Bruno DL - Search Results

1

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

2

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.

3

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

4

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

5

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

6

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

7

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.

Hunter M, Bruno D, Amor DJ. Hunter M, et al. Am J Med Genet A. 2009 Aug;149A(8):1763-7. doi: 10.1002/ajmg.a.32954. Am J Med Genet A. 2009. PMID: 19610086

8

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

9

Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1).

Coman D, Yaplito-Lee J, La P, Nasioulas S, Bruno D, Slater HR, Stock-Myer SE, Lynch EL, Gardner RJ. Coman D, et al. Mol Genet Metab. 2010 Mar;99(3):329. doi: 10.1016/j.ymgme.2009.11.006. Epub 2009 Nov 27. Mol Genet Metab. 2010. PMID: 20036594 No abstract available.

10

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. J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906. J Med Genet. 2010. PMID: 20452996

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