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Results: 1 to 20 of 86

1.

Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.

Vermeesch JR, Brady PD, Sanlaville D, Kok K, Hastings RJ.

Hum Mutat. 2012 Jun;33(6):906-15. doi: 10.1002/humu.22076.

PMID:
22415865
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O.

Eur J Hum Genet. 2007 Nov;15(11):1105-14. Epub 2007 Jul 18. Review.

PMID:
17637806
[PubMed - indexed for MEDLINE]
Free Article
4.

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.

South ST, Lee C, Lamb AN, Higgins AW, Kearney HM; Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee.

Genet Med. 2013 Nov;15(11):901-9. doi: 10.1038/gim.2013.129. Epub 2013 Sep 26.

PMID:
24071793
[PubMed - indexed for MEDLINE]
5.

Oligonucleotide microarrays in constitutional genetic diagnosis.

Keren B, Le Caignec C.

Expert Rev Mol Diagn. 2011 Jun;11(5):521-32. doi: 10.1586/ERM.11.32. Review.

PMID:
21707460
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

The introduction of arrays in prenatal diagnosis: a special challenge.

Vetro A, Bouman K, Hastings R, McMullan DJ, Vermeesch JR, Miller K, Sikkema-Raddatz B, Ledbetter DH, Zuffardi O, van Ravenswaaij-Arts CM.

Hum Mutat. 2012 Jun;33(6):923-9. doi: 10.1002/humu.22050. Epub 2012 Apr 16.

PMID:
22508381
[PubMed - indexed for MEDLINE]
8.

Genome-wide arrays in routine diagnostics of hematological malignancies.

Simons A, Sikkema-Raddatz B, de Leeuw N, Konrad NC, Hastings RJ, Schoumans J.

Hum Mutat. 2012 Jun;33(6):941-8. doi: 10.1002/humu.22057. Epub 2012 Apr 9. Review.

PMID:
22488943
[PubMed - indexed for MEDLINE]
9.

Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation.

Wei Y, Xu F, Li P.

J Genet Genomics. 2013 Jan 20;40(1):1-14. doi: 10.1016/j.jgg.2012.12.004. Epub 2012 Dec 27. Review.

PMID:
23357340
[PubMed - indexed for MEDLINE]
10.

Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.

Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L.

Genet Med. 2010 Feb;12(2):85-92. doi: 10.1097/GIM.0b013e3181cc75d0.

PMID:
20084009
[PubMed - indexed for MEDLINE]
11.

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.

Bi W, Breman AM, Venable SF, Eng PA, Sahoo T, Lu XY, Patel A, Beaudet AL, Cheung SW, White LD.

Prenat Diagn. 2008 Oct;28(10):943-9. doi: 10.1002/pd.2087.

PMID:
18792925
[PubMed - indexed for MEDLINE]
12.

Clinical laboratory implementation of cytogenomic microarrays.

South ST, Brothman AR.

Cytogenet Genome Res. 2011;135(3-4):203-11. doi: 10.1159/000331425. Epub 2011 Sep 16. Review.

PMID:
21934287
[PubMed - indexed for MEDLINE]
13.

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

Vermeesch JR, Melotte C, Froyen G, Van Vooren S, Dutta B, Maas N, Vermeulen S, Menten B, Speleman F, De Moor B, Van Hummelen P, Marynen P, Fryns JP, Devriendt K.

J Histochem Cytochem. 2005 Mar;53(3):413-22.

PMID:
15750031
[PubMed - indexed for MEDLINE]
14.

Genomic profiling: cDNA arrays and oligoarrays.

Gorreta F, Carbone W, Barzaghi D.

Methods Mol Biol. 2012;823:89-105. doi: 10.1007/978-1-60327-216-2_7. Review.

PMID:
22081341
[PubMed - indexed for MEDLINE]
15.

Evaluating chromosomal mosaicism by array comparative genomic hybridization in hematological malignancies: the proposal of a formula.

Valli R, Maserati E, Marletta C, Pressato B, Lo Curto F, Pasquali F.

Cancer Genet. 2011 Apr;204(4):216-8. doi: 10.1016/j.cancergen.2011.02.002.

PMID:
21536241
[PubMed - indexed for MEDLINE]
16.

[New technologies for genome analysis: Which use in prenatal diagnosis].

Vialard F, Molina Gomes D.

Gynecol Obstet Fertil. 2011 Jan;39(1):32-41. doi: 10.1016/j.gyobfe.2010.09.006. Epub 2010 Dec 24. French.

PMID:
21185761
[PubMed - indexed for MEDLINE]
17.

From karyotyping to array-CGH in prenatal diagnosis.

Lichtenbelt KD, Knoers NV, Schuring-Blom GH.

Cytogenet Genome Res. 2011;135(3-4):241-50. doi: 10.1159/000334065. Epub 2011 Nov 12. Review.

PMID:
22086062
[PubMed - indexed for MEDLINE]
18.

Advances in whole-genome genetic testing: from chromosomes to microarrays.

Crotwell PL, Hoyme HE.

Curr Probl Pediatr Adolesc Health Care. 2012 Mar;42(3):47-73. doi: 10.1016/j.cppeds.2011.10.004. Review.

PMID:
22325474
[PubMed - indexed for MEDLINE]
19.

Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases.

Fiorentino F, Caiazzo F, Napolitano S, Spizzichino L, Bono S, Sessa M, Nuccitelli A, Biricik A, Gordon A, Rizzo G, Baldi M.

Prenat Diagn. 2011 Dec;31(13):1270-82. doi: 10.1002/pd.2884. Epub 2011 Oct 28.

PMID:
22034057
[PubMed - indexed for MEDLINE]
20.

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

Zhang ZF, Ruivenkamp C, Staaf J, Zhu H, Barbaro M, Petillo D, Khoo SK, Borg A, Fan YS, Schoumans J.

Eur J Hum Genet. 2008 Jul;16(7):786-92. doi: 10.1038/ejhg.2008.14. Epub 2008 Feb 20.

PMID:
18285835
[PubMed - indexed for MEDLINE]
Free Article
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