Biesecker LG - Search Results

1

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC. Hilton EN, et al. Among authors: biesecker lg. Hum Mol Genet. 2007 Jul 15;16(14):1773-82. doi: 10.1093/hmg/ddm125. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17517692

2

Gene structure and allelic expression assay of the human GLI3 gene.

Kang S, Rosenberg M, Ko VD, Biesecker LG. Kang S, et al. Among authors: biesecker lg. Hum Genet. 1997 Dec;101(2):154-7. doi: 10.1007/s004390050605. Hum Genet. 1997. PMID: 9402960

3

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.

Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Slavotinek A, et al. J Med Genet. 1999 May;36(5):405-11. J Med Genet. 1999. PMID: 10353788 Free PMC article.

4

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG. Stone DL, et al. Among authors: biesecker lg. Nat Genet. 2000 May;25(1):79-82. doi: 10.1038/75637. Nat Genet. 2000. PMID: 10802661

5

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. Johnston JJ, et al. Among authors: biesecker lg. Am J Hum Genet. 2000 Oct;67(4):814-21. doi: 10.1086/303089. Epub 2000 Aug 21. Am J Hum Genet. 2000. PMID: 10952871 Free PMC article.

6

Mutations in MKKS cause Bardet-Biedl syndrome.

Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Slavotinek AM, et al. Among authors: biesecker lg. Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. Nat Genet. 2000. PMID: 10973238

7

Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.

Slavotinek AM, Biesecker LG. Slavotinek AM, et al. Among authors: biesecker lg. Am J Med Genet. 2000 Nov 27;95(3):208-15. Am J Med Genet. 2000. PMID: 11102925 Review.

8

Sudden death caused by pulmonary thromboembolism in Proteus syndrome.

Slavotinek AM, Vacha SJ, Peters KF, Biesecker LG. Slavotinek AM, et al. Among authors: biesecker lg. Clin Genet. 2000 Nov;58(5):386-9. doi: 10.1034/j.1399-0004.2000.580509.x. Clin Genet. 2000. PMID: 11140839

9

Unfolding the role of chaperones and chaperonins in human disease.

Slavotinek AM, Biesecker LG. Slavotinek AM, et al. Among authors: biesecker lg. Trends Genet. 2001 Sep;17(9):528-35. doi: 10.1016/s0168-9525(01)02413-1. Trends Genet. 2001. PMID: 11525836 Review.

10

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.

Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG. Slavotinek AM, et al. Among authors: biesecker lg. Hum Genet. 2002 Jun;110(6):561-7. doi: 10.1007/s00439-002-0733-3. Epub 2002 May 9. Hum Genet. 2002. PMID: 12107442

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