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Results: 1 to 20 of 202

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.

Han K, Sen SK, Wang J, Callinan PA, Lee J, Cordaux R, Liang P, Batzer MA.

Nucleic Acids Res. 2005 Jul 20;33(13):4040-52. Print 2005.

PMID:
16034026
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
5.

Genomic deletions created upon LINE-1 retrotransposition.

Gilbert N, Lutz-Prigge S, Moran JV.

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

PMID:
12176319
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
Free Article
7.

A full-length and potentially active LINE element is integrated polymorphically within the IGL locus in a genomically unstable region of chromosome 22.

Benjes SM, Morris CM.

Hum Genet. 2001 Dec;109(6):628-37. Epub 2001 Oct 27.

PMID:
11810275
[PubMed - indexed for MEDLINE]
8.

A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency.

Okubo M, Horinishi A, Saito M, Ebara T, Endo Y, Kaku K, Murase T, Eto M.

Mol Genet Metab. 2007 Nov;92(3):229-33. Epub 2007 Aug 13.

PMID:
17706445
[PubMed - indexed for MEDLINE]
9.

Frequent human genomic DNA transduction driven by LINE-1 retrotransposition.

Pickeral OK, Makałowski W, Boguski MS, Boeke JD.

Genome Res. 2000 Apr;10(4):411-5.

PMID:
10779482
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A comprehensive analysis of recently integrated human Ta L1 elements.

Myers JS, Vincent BJ, Udall H, Watkins WS, Morrish TA, Kilroy GE, Swergold GD, Henke J, Henke L, Moran JV, Jorde LB, Batzer MA.

Am J Hum Genet. 2002 Aug;71(2):312-26. Epub 2002 Jun 17.

PMID:
12070800
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
17344853
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
Free Article
16.
17.

Molecular archeology of L1 insertions in the human genome.

Szak ST, Pickeral OK, Makalowski W, Boguski MS, Landsman D, Boeke JD.

Genome Biol. 2002 Sep 19;3(10):research0052. Epub 2002 Sep 19.

PMID:
12372140
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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
[PubMed - indexed for MEDLINE]
19.

Allelic heterogeneity in LINE-1 retrotransposition activity.

Lutz SM, Vincent BJ, Kazazian HH Jr, Batzer MA, Moran JV.

Am J Hum Genet. 2003 Dec;73(6):1431-7. Epub 2003 Nov 7.

PMID:
14610717
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

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