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Items: 1 to 20 of 98

1.

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
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.

3.

Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.

Poot M, van der Smagt JJ, Brilstra EH, Bourgeron T.

Cytogenet Genome Res. 2011;135(3-4):228-40. doi: 10.1159/000334064. Epub 2011 Nov 12. Review.

PMID:
22085975
4.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
5.

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
6.

The role of DNA copy number variation in schizophrenia.

Tam GW, Redon R, Carter NP, Grant SG.

Biol Psychiatry. 2009 Dec 1;66(11):1005-12. doi: 10.1016/j.biopsych.2009.07.027. Epub 2009 Sep 12. Review.

PMID:
19748074
7.

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
8.
9.

Genomic copy number variations: A breakthrough in our knowledge on schizophrenia etiology?

Hosak L, Silhan P, Hosakova J.

Neuro Endocrinol Lett. 2012;33(2):183-90. Review.

PMID:
22592199
10.
11.

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.

Vissers LE, de Vries BB, Veltman JA.

J Med Genet. 2010 May;47(5):289-97. doi: 10.1136/jmg.2009.072942. Epub 2009 Nov 30. Review.

PMID:
19951919
12.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Fr├ębourg T, Saugier Veber P, Campion D.

Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Review.

13.

Recent genomic advances in schizophrenia.

Doherty JL, O'Donovan MC, Owen MJ.

Clin Genet. 2012 Feb;81(2):103-9. doi: 10.1111/j.1399-0004.2011.01773.x. Epub 2011 Oct 5. Review.

PMID:
21895634
14.

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
15.

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, van Kessel AG, Veltman JA, de Vries BB.

Hum Mutat. 2009 Mar;30(3):283-92. doi: 10.1002/humu.20883. Review.

PMID:
19085936
16.

Schizophrenia genetics: new insights from new approaches.

Williams HJ, Owen MJ, O'Donovan MC.

Br Med Bull. 2009;91:61-74. doi: 10.1093/bmb/ldp017. Epub 2009 May 14. Review.

PMID:
19443537
17.

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies.

Edelmann L, Hirschhorn K.

Ann N Y Acad Sci. 2009 Jan;1151:157-66. doi: 10.1111/j.1749-6632.2008.03610.x. Review.

PMID:
19154522
18.

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
19.

Autism genetics.

Persico AM, Napolioni V.

Behav Brain Res. 2013 Aug 15;251:95-112. doi: 10.1016/j.bbr.2013.06.012. Epub 2013 Jun 13. Review.

PMID:
23769996
20.

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.

Stankiewicz P, Beaudet AL.

Curr Opin Genet Dev. 2007 Jun;17(3):182-92. Epub 2007 Apr 30. Review.

PMID:
17467974

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