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Items: 1 to 20 of 110

1.

Rare copy number variants are a common cause of short stature.

Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel CT.

PLoS Genet. 2013;9(3):e1003365. doi: 10.1371/journal.pgen.1003365. Epub 2013 Mar 14.

2.

Copy number variants in patients with short stature.

van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM.

Eur J Hum Genet. 2014 May;22(5):602-9. doi: 10.1038/ejhg.2013.203. Epub 2013 Sep 25.

3.

Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder.

Jarick I, Volckmar AL, Pütter C, Pechlivanis S, Nguyen TT, Dauvermann MR, Beck S, Albayrak Ö, Scherag S, Gilsbach S, Cichon S, Hoffmann P, Degenhardt F, Nöthen MM, Schreiber S, Wichmann HE, Jöckel KH, Heinrich J, Tiesler CM, Faraone SV, Walitza S, Sinzig J, Freitag C, Meyer J, Herpertz-Dahlmann B, Lehmkuhl G, Renner TJ, Warnke A, Romanos M, Lesch KP, Reif A, Schimmelmann BG, Hebebrand J, Scherag A, Hinney A.

Mol Psychiatry. 2014 Jan;19(1):115-21. doi: 10.1038/mp.2012.161. Epub 2012 Nov 20.

4.

Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.

Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN.

Am J Hum Genet. 2011 Dec 9;89(6):751-9. doi: 10.1016/j.ajhg.2011.10.014. Epub 2011 Nov 23.

5.

The relative contribution of common and rare genetic variants to ADHD.

Martin J, O'Donovan MC, Thapar A, Langley K, Williams N.

Transl Psychiatry. 2015 Feb 10;5:e506. doi: 10.1038/tp.2015.5.

6.

Genome-wide analysis identifies a role for common copy number variants in specific language impairment.

Simpson NH, Ceroni F, Reader RH, Covill LE, Knight JC; SLI Consortium., Hennessy ER, Bolton PF, Conti-Ramsden G, O'Hare A, Baird G, Fisher SE, Newbury DF.

Eur J Hum Genet. 2015 Oct;23(10):1370-7. doi: 10.1038/ejhg.2014.296. Epub 2015 Jan 14.

7.

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.

Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, Stefansson H, Stefansson K, Magnusson P, Gudmundsson OO, Gustafsson O, Holmans P, Owen MJ, O'Donovan M, Thapar A.

Lancet. 2010 Oct 23;376(9750):1401-8. doi: 10.1016/S0140-6736(10)61109-9. Epub 2010 Sep 29.

8.

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.

Lesch KP, Selch S, Renner TJ, Jacob C, Nguyen TT, Hahn T, Romanos M, Walitza S, Shoichet S, Dempfle A, Heine M, Boreatti-Hümmer A, Romanos J, Gross-Lesch S, Zerlaut H, Wultsch T, Heinzel S, Fassnacht M, Fallgatter A, Allolio B, Schäfer H, Warnke A, Reif A, Ropers HH, Ullmann R.

Mol Psychiatry. 2011 May;16(5):491-503. doi: 10.1038/mp.2010.29. Epub 2010 Mar 23.

PMID:
20308990
9.

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Canton AP, Costa SS, Rodrigues TC, Bertola DR, Malaquias AC, Correa FA, Arnhold IJ, Rosenberg C, Jorge AA.

Eur J Endocrinol. 2014 Aug;171(2):253-62. doi: 10.1530/EJE-14-0232. Epub 2014 May 30.

10.

A genome-wide CNV analysis of schizophrenia reveals a potential role for a multiple-hit model.

Rudd DS, Axelsen M, Epping EA, Andreasen NC, Wassink TH.

Am J Med Genet B Neuropsychiatr Genet. 2014 Dec;165B(8):619-26. doi: 10.1002/ajmg.b.32266. Epub 2014 Sep 16.

PMID:
25228354
11.

A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.

Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A.

J Clin Endocrinol Metab. 2014 Jan;99(1):E153-9. doi: 10.1210/jc.2013-3106. Epub 2013 Dec 20.

12.

Genome-wide association study of multiplex schizophrenia pedigrees.

Levinson DF, Shi J, Wang K, Oh S, Riley B, Pulver AE, Wildenauer DB, Laurent C, Mowry BJ, Gejman PV, Owen MJ, Kendler KS, Nestadt G, Schwab SG, Mallet J, Nertney D, Sanders AR, Williams NM, Wormley B, Lasseter VK, Albus M, Godard-Bauché S, Alexander M, Duan J, O'Donovan MC, Walsh D, O'Neill A, Papadimitriou GN, Dikeos D, Maier W, Lerer B, Campion D, Cohen D, Jay M, Fanous A, Eichhammer P, Silverman JM, Norton N, Zhang N, Hakonarson H, Gao C, Citri A, Hansen M, Ripke S; Schizophrenia Psychiatric GWAS Consortium., Dudbridge F, Holmans PA.

Am J Psychiatry. 2012 Sep;169(9):963-73.

PMID:
22885689
13.

A genome-wide assessment of rare copy number variants in colorectal cancer.

Li Z, Yu D, Gan M, Shan Q, Yin X, Tang S, Zhang S, Shi Y, Zhu Y, Lai M, Zhang D.

Oncotarget. 2015 Sep 22;6(28):26411-23. doi: 10.18632/oncotarget.4621.

14.

Copy number variants in short children born small for gestational age.

Wit JM, van Duyvenvoorde HA, van Klinken JB, Caliebe J, Bosch CA, Lui JC, Gijsbers AC, Bakker E, Breuning MH, Oostdijk W, Losekoot M, Baron J, Binder G, Ranke MB, Ruivenkamp CA.

Horm Res Paediatr. 2014;82(5):310-8. doi: 10.1159/000367712. Epub 2014 Oct 8.

15.

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

Yu Y, Yao R, Wang L, Fan Y, Huang X, Hirschhorn J, Dauber A, Shen Y.

BMC Genomics. 2015 Sep 16;16:701. doi: 10.1186/s12864-015-1898-1.

16.

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.

Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30.

17.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.

Circ Res. 2014 Oct 24;115(10):884-96. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

18.

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.

Iyer J, Girirajan S.

Brief Funct Genomics. 2015 Sep;14(5):315-28. doi: 10.1093/bfgp/elv018. Epub 2015 May 13. Review.

PMID:
25971441
19.

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
20.

Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.

Fanciulli M, Pasini E, Malacrida S, Striano P, Striano S, Michelucci R, Ottman R, Nobile C.

Epilepsia. 2014 Oct;55(10):1651-8. doi: 10.1111/epi.12767. Epub 2014 Sep 19.

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