Sheffield L - Search Results

1

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

Froyen G, Belet S, Martinez F, Santos-Rebouças CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P. Froyen G, et al. Among authors: sheffield l. Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840365 Free PMC article.

2

Regional localization for HLA by recombination with a fragile site at 6p23.

Mulley JC, Hay J, Sheffield LJ, Sutherland GR. Mulley JC, et al. Among authors: sheffield lj. Am J Hum Genet. 1983 Nov;35(6):1284-8. Am J Hum Genet. 1983. PMID: 6650505 Free PMC article.

3

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. Among authors: sheffield l. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223

4

Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.

Schmidt M, Certoma A, Du Sart D, Kalitsis P, Leversha M, Fowler K, Sheffield L, Jack I, Danks DM. Schmidt M, et al. Among authors: sheffield l. Hum Genet. 1990 Mar;84(4):347-52. doi: 10.1007/BF00196232. Hum Genet. 1990. PMID: 2307456

5

Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci.

Chen JD, Halliday F, Keith G, Sheffield L, Dickinson P, Gray R, Constable I, Denton M. Chen JD, et al. Among authors: sheffield l. Am J Hum Genet. 1989 Sep;45(3):401-11. Am J Hum Genet. 1989. PMID: 2570529 Free PMC article.

6

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Wakui K, et al. Among authors: sheffield lj. Eur J Hum Genet. 2005 May;13(5):528-40. doi: 10.1038/sj.ejhg.5201366. Eur J Hum Genet. 2005. PMID: 15852040

7

Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies.

Schmidt M, Du Sart D, Kalitsis P, Leversha M, Dale S, Sheffield L, Toniolo D. Schmidt M, et al. Among authors: sheffield l. Hum Genet. 1991 Mar;86(5):519-21. doi: 10.1007/BF00194646. Hum Genet. 1991. PMID: 2016093

8

Between-generation differences in ascertainment and penetrance: relevance to genetic hypotheses in fragile X.

Loesch DZ, Sheffield LJ, Hay DA. Loesch DZ, et al. Among authors: sheffield lj. Hum Genet. 1993 Jun;91(5):469-74. doi: 10.1007/BF00217774. Hum Genet. 1993. PMID: 8314559

9

Recombination frequencies between Duchenne muscular dystrophy and intragenic markers in multigeneration families.

Mulley JC, Haan EA, Sheffield LJ, Sutherland GR. Mulley JC, et al. Among authors: sheffield lj. Hum Genet. 1988 Mar;78(3):296-7. doi: 10.1007/BF00291684. Hum Genet. 1988. PMID: 3162229 No abstract available.

10

Partial trisomy 3p syndrome.

Reiss JA, Sheffield LJ, Sutherland GR. Reiss JA, et al. Among authors: sheffield lj. Clin Genet. 1986 Jul;30(1):50-8. doi: 10.1111/j.1399-0004.1986.tb00568.x. Clin Genet. 1986. PMID: 3757296

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