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Items: 12

1.

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.

Vergés L, Vidal F, Geán E, Alemany-Schmidt A, Oliver-Bonet M, Blanco J.

Sci Rep. 2017 Jan 6;7:40031. doi: 10.1038/srep40031.

2.

Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism.

Alves JM, Lima AC, Pais IA, Amir N, Celestino R, Piras G, Monne M, Comas D, Heutink P, Chikhi L, Amorim A, Lopes AM.

Genome Biol Evol. 2015 Nov 11;7(12):3239-48. doi: 10.1093/gbe/evv214.

3.

Regulation of human MAPT gene expression.

Caillet-Boudin ML, Buée L, Sergeant N, Lefebvre B.

Mol Neurodegener. 2015 Jul 14;10:28. doi: 10.1186/s13024-015-0025-8. Review.

4.

Human inversions and their functional consequences.

Puig M, Casillas S, Villatoro S, Cáceres M.

Brief Funct Genomics. 2015 Sep;14(5):369-79. doi: 10.1093/bfgp/elv020. Review.

5.

Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers.

Vergés L, Molina O, Geán E, Vidal F, Blanco J.

Mol Cytogenet. 2014 Nov 25;7(1):86. doi: 10.1186/s13039-014-0086-3.

6.

A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.

Mc Cormack A, Taylor J, Te Weehi L, Love DR, George AM.

Case Rep Genet. 2014;2014:658570. doi: 10.1155/2014/658570.

7.

On the structural plasticity of the human genome: chromosomal inversions revisited.

Alves JM, Lopes AM, Chikhi L, Amorim A.

Curr Genomics. 2012 Dec;13(8):623-32. doi: 10.2174/138920212803759703.

8.

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.

de Jong S, Chepelev I, Janson E, Strengman E, van den Berg LH, Veldink JH, Ophoff RA.

BMC Genomics. 2012 Sep 6;13:458. doi: 10.1186/1471-2164-13-458.

9.

Structural diversity and African origin of the 17q21.31 inversion polymorphism.

Steinberg KM, Antonacci F, Sudmant PH, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, Donnelly MP, Kidd KK, Tishkoff SA, Eichler EE.

Nat Genet. 2012 Jul 1;44(8):872-80. doi: 10.1038/ng.2335.

11.

High rates of de novo 15q11q13 inversions in human spermatozoa.

Molina O, Anton E, Vidal F, Blanco J.

Mol Cytogenet. 2012 Feb 6;5(1):11. doi: 10.1186/1755-8166-5-11.

12.

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM.

Hum Mutat. 2011 Oct;32(10):1075-99. doi: 10.1002/humu.21557. Review.

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