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Items: 1 to 20 of 190

1.

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

Miné M, Chen JM, Brivet M, Desguerre I, Marchant D, de Lonlay P, Bernard A, Férec C, Abitbol M, Ricquier D, Marsac C.

Hum Mutat. 2007 Feb;28(2):137-42.

PMID:
17152059
2.

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.

Miné M, Brivet M, Schiff M, de Baulny HO, Chuzhanova N, Marsac C.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):106-10. Epub 2006 Jul 13. Review.

PMID:
16843025
3.

Genomic deletions created upon LINE-1 retrotransposition.

Gilbert N, Lutz-Prigge S, Moran JV.

Cell. 2002 Aug 9;110(3):315-25.

4.

Transduction of 3'-flanking sequences is common in L1 retrotransposition.

Goodier JL, Ostertag EM, Kazazian HH Jr.

Hum Mol Genet. 2000 Mar 1;9(4):653-7.

PMID:
10699189
6.

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.

Chen JM, Stenson PD, Cooper DN, Férec C.

Hum Genet. 2005 Sep;117(5):411-27. Epub 2005 Jun 28. Review.

PMID:
15983781
7.

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

Kazazian HH Jr, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE.

Nature. 1988 Mar 10;332(6160):164-6.

PMID:
2831458
8.

Endonuclease-independent LINE-1 retrotransposition at mammalian telomeres.

Morrish TA, Garcia-Perez JL, Stamato TD, Taccioli GE, Sekiguchi J, Moran JV.

Nature. 2007 Mar 8;446(7132):208-12.

9.

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.

Chun K, MacKay N, Petrova-Benedict R, Robinson BH.

Hum Mol Genet. 1993 Apr;2(4):449-54.

PMID:
8504306
10.

Requirements for polyadenylation at the 3' end of LINE-1 elements.

Belancio VP, Whelton M, Deininger P.

Gene. 2007 Apr 1;390(1-2):98-107. Epub 2006 Aug 18.

PMID:
17023124
11.

Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites.

Vincent BJ, Myers JS, Ho HJ, Kilroy GE, Walker JA, Watkins WS, Jorde LB, Batzer MA.

Mol Biol Evol. 2003 Aug;20(8):1338-48. Epub 2003 May 30.

PMID:
12777507
13.

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.

Musova Z, Hedvicakova P, Mohrmann M, Tesarova M, Krepelova A, Zeman J, Sedlacek Z.

Biochem Biophys Res Commun. 2006 Aug 18;347(1):145-9. Epub 2006 Jun 21.

PMID:
16808900
14.

Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements.

Woods-Samuels P, Wong C, Mathias SL, Scott AF, Kazazian HH Jr, Antonarakis SE.

Genomics. 1989 Apr;4(3):290-6.

PMID:
2497061
16.

L1 retrotransposition can occur early in human embryonic development.

van den Hurk JA, Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP.

Hum Mol Genet. 2007 Jul 1;16(13):1587-92. Epub 2007 May 4.

PMID:
17483097
17.

LINE drive. retrotransposition and genome instability.

Kazazian HH Jr, Goodier JL.

Cell. 2002 Aug 9;110(3):277-80. Review.

18.

LINE-1 preTa elements in the human genome.

Salem AH, Myers JS, Otieno AC, Watkins WS, Jorde LB, Batzer MA.

J Mol Biol. 2003 Feb 28;326(4):1127-46.

PMID:
12589758
19.

Alu retrotransposition-mediated deletion.

Callinan PA, Wang J, Herke SW, Garber RK, Liang P, Batzer MA.

J Mol Biol. 2005 May 13;348(4):791-800.

PMID:
15843013
20.

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