Biesecker LG - Search Results

1

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: biesecker lg. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.

2

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.

3

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Ng D, Hadley DW, Tifft CJ, Biesecker LG. Ng D, et al. Among authors: biesecker lg. Am J Med Genet. 2002 Jul 15;110(4):308-14. doi: 10.1002/ajmg.10484. Am J Med Genet. 2002. PMID: 12116202

4

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

Turner C, Killoran C, Thomas NS, Rosenberg M, Chuzhanova NA, Johnston J, Kemel Y, Cooper DN, Biesecker LG. Turner C, et al. Among authors: biesecker lg. Hum Genet. 2003 Mar;112(3):303-9. doi: 10.1007/s00439-002-0892-2. Epub 2003 Jan 25. Hum Genet. 2003. PMID: 12545275

5

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG. Ng D, et al. Among authors: biesecker lg. Nat Genet. 2004 Apr;36(4):411-6. doi: 10.1038/ng1321. Epub 2004 Mar 7. Nat Genet. 2004. PMID: 15004558

6

Syndromic and non-syndromic GLI3 phenotypes.

Biesecker LG, Johnston J. Biesecker LG, et al. Clin Genet. 2005 Sep;68(3):284; author reply 285. doi: 10.1111/j.1399-0004.2005.0485a.x. Clin Genet. 2005. PMID: 16098019 No abstract available.

7

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

8

Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.

Jiang YH, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW. Jiang YH, et al. Among authors: biesecker lg. Am J Med Genet A. 2009 Jun;149A(6):1249-52. doi: 10.1002/ajmg.a.32863. Am J Med Genet A. 2009. PMID: 19449433 Free PMC article.

9

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG. Bardakjian TM, et al. Among authors: biesecker lg. BMC Med Genet. 2009 Dec 16;10:137. doi: 10.1186/1471-2350-10-137. BMC Med Genet. 2009. PMID: 20003547 Free PMC article.

10

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK; NIH Intramural Sequencing Center (NISC); Chong K, Mullikin JC, Biesecker LG. Johnston JJ, et al. Among authors: biesecker lg. Am J Hum Genet. 2010 May 14;86(5):743-8. doi: 10.1016/j.ajhg.2010.04.007. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451169 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

439 results

Search Page

Filters