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Results: 1 to 20 of 53

1.

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report.

Papoulidis I, Oikonomidou E, Orru S, Siomou E, Kontodiou M, Eleftheriades M, Bacoulas V, Cigudosa JC, Suela J, Thomaidis L, Manolakos E.

Mol Med Rep. 2014 Jan;9(1):163-5. doi: 10.3892/mmr.2013.1788. Epub 2013 Nov 11.

PMID:
24220582
[PubMed - indexed for MEDLINE]
2.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D.

Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25.

PMID:
23979609
[PubMed - indexed for MEDLINE]
3.

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.

Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C.

Curr Opin Genet Dev. 2013 Jun;23(3):316-23. doi: 10.1016/j.gde.2013.02.015. Epub 2013 Apr 17. Review.

PMID:
23602329
[PubMed - indexed for MEDLINE]
Free Article
4.

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Digilio MC, Bernardini L, Consoli F, Lepri FR, Giuffrida MG, Baban A, Surace C, Ferese R, Angioni A, Novelli A, Marino B, De Luca A, Dallapiccola B.

Eur J Med Genet. 2013 Mar;56(3):144-9. doi: 10.1016/j.ejmg.2012.12.004. Epub 2012 Dec 25.

PMID:
23270675
[PubMed - indexed for MEDLINE]
5.

Estimates of penetrance for recurrent pathogenic copy-number variations.

Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG.

Genet Med. 2013 Jun;15(6):478-81. doi: 10.1038/gim.2012.164. Epub 2012 Dec 20.

PMID:
23258348
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.

Vergult S, Hoogeboom AJ, Bijlsma EK, Sante T, Klopocki E, De Wilde B, Jongmans M, Thiel C, Verheij JB, Perez-Aytes A, Van Esch H, Kuechler A, Barge-Schaapveld DQ, Sznajer Y, Mortier G, Menten B.

Genet Med. 2013 Mar;15(3):195-202. doi: 10.1038/gim.2012.120. Epub 2012 Sep 20.

PMID:
22995989
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
22939634
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS.

PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.

PMID:
22912587
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

Van Den Bossche MJ, Johnstone M, Strazisar M, Pickard BS, Goossens D, Lenaerts AS, De Zutter S, Nordin A, Norrback KF, Mendlewicz J, Souery D, De Rijk P, Sabbe BG, Adolfsson R, Blackwood D, Del-Favero J.

Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):812-22. doi: 10.1002/ajmg.b.32088. Epub 2012 Aug 22.

PMID:
22911887
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Prenatal diagnosis of an atypical 1q21.1 microdeletion and duplication associated with foetal urogenital abnormalities.

Liao C, Fu F, Yi CX, Li R, Yang X, Xu Q, Li DZ.

Gene. 2012 Oct 1;507(1):92-4. doi: 10.1016/j.gene.2012.07.008. Epub 2012 Jul 20. No abstract available.

PMID:
22820078
[PubMed - indexed for MEDLINE]
12.

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.

Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, Cristina Digilio M, Marino B, Zaza A, den Hertog J, Dallapiccola B, De Luca A.

Eur J Hum Genet. 2013 Jan;21(1):69-75. doi: 10.1038/ejhg.2012.109. Epub 2012 Jun 20.

PMID:
22713807
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.

Piccione M, Serra G, Consiglio V, Di Fiore A, Cavani S, Grasso M, Malacarne M, Pierluigi M, Viaggi C, Corsello G.

Am J Med Genet A. 2012 Jun;158A(6):1427-33. doi: 10.1002/ajmg.a.35334. Epub 2012 May 11.

PMID:
22581785
[PubMed - indexed for MEDLINE]
15.

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C.

Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083.

PMID:
22366785
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group.

Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.

PMID:
22317977
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.

Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT.

Eur J Med Genet. 2012 Feb;55(2):120-3. doi: 10.1016/j.ejmg.2011.11.007. Epub 2011 Dec 8.

PMID:
22201559
[PubMed - indexed for MEDLINE]
18.

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.

Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.

Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22.

PMID:
22199024
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia.

Grozeva D, Conrad DF, Barnes CP, Hurles M, Owen MJ, O'Donovan MC, Craddock N, Kirov G; WTCCC.

Schizophr Res. 2012 Mar;135(1-3):1-7. doi: 10.1016/j.schres.2011.11.004. Epub 2011 Nov 29.

PMID:
22130109
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.

Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL.

BMC Med Genet. 2011 Nov 25;12:154. doi: 10.1186/1471-2350-12-154.

PMID:
22118685
[PubMed - indexed for MEDLINE]
Free PMC Article

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