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Items: 1 to 20 of 147

1.

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

Hehir-Kwa JY, Rodríguez-Santiago B, Vissers LE, de Leeuw N, Pfundt R, Buitelaar JK, Pérez-Jurado LA, Veltman JA.

J Med Genet. 2011 Nov;48(11):776-8. doi: 10.1136/jmedgenet-2011-100147. Epub 2011 Oct 3.

PMID:
21969336
2.

Structural genomic variation in intellectual disability.

Pfundt R, Veltman JA.

Methods Mol Biol. 2012;838:77-95. doi: 10.1007/978-1-61779-507-7_3.

PMID:
22228007
3.

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.

4.

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E.

BMC Med Genet. 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82.

5.

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
6.

miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability.

Qiao Y, Badduke C, Mercier E, Lewis SM, Pavlidis P, Rajcan-Separovic E.

BMC Genomics. 2013 Aug 10;14:544. doi: 10.1186/1471-2164-14-544.

7.

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.

Ma R, Deng L, Xia Y, Wei X, Cao Y, Guo R, Zhang R, Guo J, Liang D, Wu L.

Sci Rep. 2017 Mar 21;7:44446. doi: 10.1038/srep44446.

8.

Genome sequencing identifies major causes of severe intellectual disability.

Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA.

Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4.

PMID:
24896178
9.

Ohnologs are overrepresented in pathogenic copy number mutations.

McLysaght A, Makino T, Grayton HM, Tropeano M, Mitchell KJ, Vassos E, Collier DA.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):361-6. doi: 10.1073/pnas.1309324111. Epub 2013 Dec 24.

10.

Clinical significance of de novo and inherited copy-number variation.

Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BW, Schuurs-Hoeijmakers JH, Meader S, Hellebrekers CJ, Thoonen IJ, de Brouwer AP, Brunner HG, Webber C, Pfundt R, de Leeuw N, de Vries BB.

Hum Mutat. 2013 Dec;34(12):1679-87. doi: 10.1002/humu.22442. Epub 2013 Oct 10.

PMID:
24038936
11.

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
12.

Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.

Borlot F, Regan BM, Bassett AS, Stavropoulos DJ, Andrade DM.

JAMA Neurol. 2017 Nov 1;74(11):1301-1311. doi: 10.1001/jamaneurol.2017.1775.

PMID:
28846756
13.

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

Pani AM, Hobart HH, Morris CA, Mervis CB, Bray-Ward P, Kimberley KW, Rios CM, Clark RC, Gulbronson MD, Gowans GC, Gregg RG.

PLoS One. 2010 Aug 31;5(8):e12349. doi: 10.1371/journal.pone.0012349.

14.

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

Duyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EE.

Am J Hum Genet. 2016 Jan 7;98(1):45-57. doi: 10.1016/j.ajhg.2015.11.017. Epub 2015 Dec 31.

15.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

Fry AE, Rees E, Thompson R, Mantripragada K, Blake P, Jones G, Morgan S, Jose S, Mugalaasi H, Archer H, McCann E, Clarke A, Taylor C, Davies S, Gibbon F, Te Water Naude J, Hartley L, Thomas G, White C, Natarajan J, Thomas RH, Drew C, Chung SK, Rees MI, Holmans P, Owen MJ, Kirov G, Pilz DT, Kerr MP.

BMC Med Genet. 2016 Apr 26;17(1):34. doi: 10.1186/s12881-016-0294-2.

16.

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, Frébourg T, Saugier Veber P, Campion D.

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

17.

Human copy number variation and complex genetic disease.

Girirajan S, Campbell CD, Eichler EE.

Annu Rev Genet. 2011;45:203-26. doi: 10.1146/annurev-genet-102209-163544. Epub 2011 Aug 19.

PMID:
21854229
18.

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC.

Neurology. 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25. Review. Erratum in: Neurology. 2013 Dec 10;81(24):2148. Trucks, Holger [added]; Lal, Dennis [added]; Sander, Thoman [added].

19.

Characterization of copy number-stable regions in the human genome.

Johansson AC, Feuk L.

Hum Mutat. 2011 Aug;32(8):947-55. doi: 10.1002/humu.21524. Epub 2011 Jul 20.

PMID:
21542059
20.

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.

Gregor A, Krumbiegel M, Kraus C, Reis A, Zweier C.

Am J Med Genet A. 2012 Jul;158A(7):1765-70. doi: 10.1002/ajmg.a.35427. Epub 2012 Jun 7.

PMID:
22678764

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