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Items: 1 to 20 of 88

1.

[Advanced molecular technologies for the diagnosis of congenital malformation in neonates].

Yang L, Wang HJ, Huang GY, Zhou WH.

Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):960-4. Review. Chinese.

2.

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.

Emy Dorfman L, Leite JC, Giugliani R, Riegel M.

J Pediatr (Rio J). 2015 Jan-Feb;91(1):59-67. doi: 10.1016/j.jped.2014.05.007. Epub 2014 Sep 6.

3.

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation.

Hayes JL, Tzika A, Thygesen H, Berri S, Wood HM, Hewitt S, Pendlebury M, Coates A, Willoughby L, Watson CM, Rabbitts P, Roberts P, Taylor GR.

Genomics. 2013 Sep;102(3):174-81. doi: 10.1016/j.ygeno.2013.04.006. Epub 2013 Apr 15.

4.

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.

Szczałuba K, Nowakowska B, Sobecka K, Smyk M, Castaneda J, Klapecki J, Kutkowska-Kaźmierczak A, Śmigiel R, Bocian E, Radkowski M, Demkow U.

Adv Exp Med Biol. 2016;912:1-9. doi: 10.1007/5584_2016_235.

PMID:
26987320
5.

The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.

Tzetis M, Kitsiou-Tzeli S, Frysira H, Xaidara A, Kanavakis E.

Expert Rev Mol Diagn. 2012 Jun;12(5):449-57. doi: 10.1586/erm.12.40.

PMID:
22702362
6.

[Detection of cryptic copy number variations in a fetus with congenital heart disease by array-based comparative genomic hybridization].

HU P, WANG Y, JI XQ, LIN Y, Li L, ZHOU XY, CHEN J, MA DY, CAO L, Xu Z.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):133-6. doi: 10.3760/cma.j.issn.1003-9406.2011.02.003. Chinese.

PMID:
21462121
7.

Interpretation of array comparative genome hybridization data: a major challenge.

Gijsbers AC, Schoumans J, Ruivenkamp CA.

Cytogenet Genome Res. 2011;135(3-4):222-7. doi: 10.1159/000334066. Epub 2011 Nov 12. Review.

PMID:
22086107
8.

SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.

de Leeuw N, Hehir-Kwa JY, Simons A, Geurts van Kessel A, Smeets DF, Faas BH, Pfundt R.

Cytogenet Genome Res. 2011;135(3-4):212-21. doi: 10.1159/000331273. Epub 2011 Sep 16. Review.

PMID:
21934286
9.

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.

Erdogan F, Larsen LA, Zhang L, Tümer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R.

J Med Genet. 2008 Nov;45(11):704-9. doi: 10.1136/jmg.2008.058776. Epub 2008 Aug 19.

PMID:
18713793
10.

Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful?

Resta N, Memo L.

J Matern Fetal Neonatal Med. 2012 Oct;25 Suppl 4:124-6. doi: 10.3109/14767058.2012.715004. Review.

PMID:
22958042
11.

The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome.

Przybytkowski E, Ferrario C, Basik M.

BMC Med Genomics. 2011 Jan 27;4:16. doi: 10.1186/1755-8794-4-16.

12.

Reference-unbiased copy number variant analysis using CGH microarrays.

Ju YS, Hong D, Kim S, Park SS, Kim S, Lee S, Park H, Kim JI, Seo JS.

Nucleic Acids Res. 2010 Nov;38(20):e190. doi: 10.1093/nar/gkq730. Epub 2010 Aug 27.

13.

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.

D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud JL, Lemyre E.

Clin Genet. 2012 Feb;81(2):128-41. doi: 10.1111/j.1399-0004.2011.01687.x. Epub 2011 May 16.

PMID:
21496010
14.

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

Syrmou A, Tzetis M, Fryssira H, Kosma K, Oikonomakis V, Giannikou K, Makrythanasis P, Kitsiou-Tzeli S, Kanavakis E.

Pediatr Res. 2013 Jun;73(6):772-6. doi: 10.1038/pr.2013.41. Epub 2013 Mar 12.

PMID:
23481551
15.

24-chromosome copy number analysis: a comparison of available technologies.

Handyside AH.

Fertil Steril. 2013 Sep;100(3):595-602. doi: 10.1016/j.fertnstert.2013.07.1965. Review.

PMID:
23993662
16.

Evolving applications of microarray technology in postnatal diagnosis (review).

Kang JU, Koo SH.

Int J Mol Med. 2012 Aug;30(2):223-8. doi: 10.3892/ijmm.2012.988. Epub 2012 May 9. Review.

PMID:
22580383
17.

Targeted resequencing of 9p in acute lymphoblastic leukemia yields concordant results with array CGH and reveals novel genomic alterations.

Sarhadi VK, Lahti L, Scheinin I, Tyybäkinoja A, Savola S, Usvasalo A, Räty R, Elonen E, Ellonen P, Saarinen-Pihkala UM, Knuutila S.

Genomics. 2013 Sep;102(3):182-8. doi: 10.1016/j.ygeno.2013.01.001. Epub 2013 Jan 16.

18.
19.

Array-based approaches in prenatal diagnosis.

Brady PD, Devriendt K, Deprest J, Vermeesch JR.

Methods Mol Biol. 2012;838:151-71. doi: 10.1007/978-1-61779-507-7_7.

PMID:
22228011
20.

Novel cytogenetic and molecular techniques in the diagnosis of congenital anomalies in newborns.

Szczałuba K, Śmigiel R.

Dev Period Med. 2015 Oct-Dec;19(4):432-40. Review.

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