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Results: 1 to 20 of 126

1.

High resolution chromosomal microarray in undiagnosed neurological disorders.

Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ.

J Paediatr Child Health. 2013 Sep;49(9):716-24. doi: 10.1111/jpc.12256. Epub 2013 Jun 3.

PMID:
23731025
[PubMed - indexed for MEDLINE]
2.

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC.

Eur J Paediatr Neurol. 2013 Nov;17(6):589-99. doi: 10.1016/j.ejpn.2013.04.010. Epub 2013 May 24.

PMID:
23711909
[PubMed - indexed for MEDLINE]
3.

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

Ganesamoorthy D, Bruno DL, McGillivray G, Norris F, White SM, Adroub S, Amor DJ, Yeung A, Oertel R, Pertile MD, Ngo C, Arvaj AR, Walker S, Charan P, Palma-Dias R, Woodrow N, Slater HR.

BJOG. 2013 Apr;120(5):594-606. doi: 10.1111/1471-0528.12150. Epub 2013 Jan 18.

PMID:
23332022
[PubMed - indexed for MEDLINE]
4.

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

Palmer E, Speirs H, Taylor PJ, Mullan G, Turner G, Einfeld S, Tonge B, Mowat D.

Am J Med Genet A. 2014 Feb;164A(2):377-85. doi: 10.1002/ajmg.a.36279. Epub 2013 Dec 5.

PMID:
24311194
[PubMed - indexed for MEDLINE]
5.

Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status.

Miller DT, Shen Y, Wu BL.

Curr Protoc Hum Genet. 2012 Jul;Chapter 8:Unit8.12. doi: 10.1002/0471142905.hg0812s74.

PMID:
22786613
[PubMed - indexed for MEDLINE]
6.

Copy number and SNP arrays in clinical diagnostics.

Schaaf CP, Wiszniewska J, Beaudet AL.

Annu Rev Genomics Hum Genet. 2011;12:25-51. doi: 10.1146/annurev-genom-092010-110715. Review.

PMID:
21801020
[PubMed - indexed for MEDLINE]
7.

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

Zilina O, Teek R, Tammur P, Kuuse K, Yakoreva M, Vaidla E, Mölter-Väär T, Reimand T, Kurg A, Ounap K.

Mol Genet Genomic Med. 2014 Mar;2(2):166-75. doi: 10.1002/mgg3.57. Epub 2014 Jan 9.

PMID:
24689080
[PubMed]
Free PMC Article
8.

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.

Hum Mutat. 2011 Dec;32(12):1500-6. doi: 10.1002/humu.21581. Epub 2011 Sep 19.

PMID:
21850686
[PubMed - indexed for MEDLINE]
9.

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.

Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG.

Gene. 2014 Feb 1;535(1):70-8. doi: 10.1016/j.gene.2013.10.020. Epub 2013 Nov 2.

PMID:
24188901
[PubMed - indexed for MEDLINE]
10.

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.

Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y.

BMC Med Genet. 2014 May 29;15:62. doi: 10.1186/1471-2350-15-62.

PMID:
24885232
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Clinical genetic testing for patients with autism spectrum disorders.

Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration.

Pediatrics. 2010 Apr;125(4):e727-35. doi: 10.1542/peds.2009-1684. Epub 2010 Mar 15.

PMID:
20231187
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA.

PLoS One. 2007 Mar 28;2(3):e327.

PMID:
17389918
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The genetics of Autism Spectrum Disorders--a guide for clinicians.

Heil KM, Schaaf CP.

Curr Psychiatry Rep. 2013 Jan;15(1):334. doi: 10.1007/s11920-012-0334-3. Review.

PMID:
23250815
[PubMed - indexed for MEDLINE]
14.

Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.

Dale RC, Grattan-Smith P, Nicholson M, Peters GB.

Dev Med Child Neurol. 2012 Jul;54(7):618-23. doi: 10.1111/j.1469-8749.2012.04287.x. Epub 2012 Apr 19.

PMID:
22515636
[PubMed - indexed for MEDLINE]
15.

Chromosome microarrays in diagnostic testing: interpreting the genomic data.

Peters GB, Pertile MD.

Methods Mol Biol. 2014;1168:117-55. doi: 10.1007/978-1-4939-0847-9_8.

PMID:
24870134
[PubMed - indexed for MEDLINE]
16.

The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.

Beaudet AL.

Child Dev. 2013 Jan-Feb;84(1):121-32. doi: 10.1111/cdev.12050. Epub 2013 Jan 11.

PMID:
23311723
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

J Med Genet. 2011 Dec;48(12):831-9. doi: 10.1136/jmedgenet-2011-100372. Epub 2011 Oct 29.

PMID:
22039585
[PubMed - indexed for MEDLINE]
18.

Copy number variation plays an important role in clinical epilepsy.

Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A.

Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13.

PMID:
24811917
[PubMed - indexed for MEDLINE]
19.

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH.

Congenit Heart Dis. 2011 Nov-Dec;6(6):592-602. doi: 10.1111/j.1747-0803.2011.00582.x. Epub 2011 Oct 20.

PMID:
22010865
[PubMed - indexed for MEDLINE]
20.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.

Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong SL, Zahir FR, Eydoux P, Marra MA.

BMC Genomics. 2009 Nov 16;10:526. doi: 10.1186/1471-2164-10-526.

PMID:
19917086
[PubMed - indexed for MEDLINE]
Free PMC Article
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