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Results: 16

1.

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]
2.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F.

Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Review.

PMID:
22083797
[PubMed - indexed for MEDLINE]
3.
4.

Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, Ophoff RA.

Cytogenet Genome Res. 2011;135(3-4):174-202. doi: 10.1159/000332928. Epub 2011 Nov 2. Review.

PMID:
22056632
[PubMed - indexed for MEDLINE]
5.

Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects.

Breckpot J, Thienpont B, Arens Y, Tranchevent LC, Vermeesch JR, Moreau Y, Gewillig M, Devriendt K.

Cytogenet Genome Res. 2011;135(3-4):251-9. doi: 10.1159/000331272. Epub 2011 Sep 13. Review.

PMID:
21921585
[PubMed - indexed for MEDLINE]
6.

Role of copy number variants in structural birth defects.

Southard AE, Edelmann LJ, Gelb BD.

Pediatrics. 2012 Apr;129(4):755-63. doi: 10.1542/peds.2011-2337. Epub 2012 Mar 19. Review.

PMID:
22430448
[PubMed - indexed for MEDLINE]
Free Article
7.

Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans.

Weiss LA.

Expert Rev Mol Diagn. 2009 Nov;9(8):795-803. doi: 10.1586/erm.09.59. Review.

PMID:
19895225
[PubMed - indexed for MEDLINE]
8.

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]
9.

Detection and characterization of copy number variation in autism spectrum disorder.

Marshall CR, Scherer SW.

Methods Mol Biol. 2012;838:115-35. doi: 10.1007/978-1-61779-507-7_5. Review.

PMID:
22228009
[PubMed - indexed for MEDLINE]
10.

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.

Poot M, Hochstenbach R.

Genet Med. 2010 Aug;12(8):478-85. doi: 10.1097/GIM.0b013e3181e3914a. Review.

PMID:
20734469
[PubMed - indexed for MEDLINE]
11.

Targeted screening and validation of copy number variations.

Ceulemans S, van der Ven K, Del-Favero J.

Methods Mol Biol. 2012;838:311-28. doi: 10.1007/978-1-61779-507-7_15. Review.

PMID:
22228019
[PubMed - indexed for MEDLINE]
12.

Implications of gene copy-number variation in health and diseases.

Almal SH, Padh H.

J Hum Genet. 2012 Jan;57(1):6-13. doi: 10.1038/jhg.2011.108. Epub 2011 Sep 29. Review.

PMID:
21956041
[PubMed - indexed for MEDLINE]
13.

Genetics of congenital heart disease: the glass half empty.

Fahed AC, Gelb BD, Seidman JG, Seidman CE.

Circ Res. 2013 Feb 15;112(4):707-20. doi: 10.1161/CIRCRESAHA.112.300853. Review. Erratum in: Circ Res. 2013 Jun 7;112(12):e182.

PMID:
23410880
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Developmental psychopathology: the role of structural variation in the genome.

Gill M.

Dev Psychopathol. 2012 Nov;24(4):1319-34. doi: 10.1017/S0954579412000739. Review.

PMID:
23062300
[PubMed - indexed for MEDLINE]
15.

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]
16.

The molecular genetic revolution in congenital heart disease.

Sze RW, Yutzey KE.

AJR Am J Roentgenol. 2001 Mar;176(3):575-81. Review. No abstract available.

PMID:
11222183
[PubMed - indexed for MEDLINE]

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