Tufarelli C - Search Results

1

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.

Kinning E, Tufarelli C, Winship WS, Aldred MA, Trembath RC. Kinning E, et al. Among authors: tufarelli c. J Med Genet. 2005 Dec;42(12):e70. doi: 10.1136/jmg.2005.033829. J Med Genet. 2005. PMID: 16326827 Free PMC article.

2

Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

Baumber L, Tufarelli C, Patel S, King P, Johnson CA, Maher ER, Trembath RC. Baumber L, et al. Among authors: tufarelli c. J Med Genet. 2005 May;42(5):443-8. doi: 10.1136/jmg.2004.026898. J Med Genet. 2005. PMID: 15863676 Free PMC article. No abstract available.

3

Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease.

Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR. Tufarelli C, et al. Nat Genet. 2003 Jun;34(2):157-65. doi: 10.1038/ng1157. Nat Genet. 2003. PMID: 12730694

4

The silence RNA keeps: cis mechanisms of RNA mediated epigenetic silencing in mammals.

Tufarelli C. Tufarelli C. Philos Trans R Soc Lond B Biol Sci. 2006 Jan 29;361(1465):67-79. doi: 10.1098/rstb.2005.1732. Philos Trans R Soc Lond B Biol Sci. 2006. PMID: 16553309 Free PMC article. Review.

5

alpha-thalassemia resulting from a negative chromosomal position effect.

Barbour VM, Tufarelli C, Sharpe JA, Smith ZE, Ayyub H, Heinlein CA, Sloane-Stanley J, Indrak K, Wood WG, Higgs DR. Barbour VM, et al. Among authors: tufarelli c. Blood. 2000 Aug 1;96(3):800-7. Blood. 2000. PMID: 10910890 Free article.

6

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

Daniels RJ, Peden JF, Lloyd C, Horsley SW, Clark K, Tufarelli C, Kearney L, Buckle VJ, Doggett NA, Flint J, Higgs DR. Daniels RJ, et al. Among authors: tufarelli c. Hum Mol Genet. 2001 Feb 15;10(4):339-52. doi: 10.1093/hmg/10.4.339. Hum Mol Genet. 2001. PMID: 11157797

7

Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster.

Flint J, Tufarelli C, Peden J, Clark K, Daniels RJ, Hardison R, Miller W, Philipsen S, Tan-Un KC, McMorrow T, Frampton J, Alter BP, Frischauf AM, Higgs DR. Flint J, et al. Among authors: tufarelli c. Hum Mol Genet. 2001 Feb 15;10(4):371-82. doi: 10.1093/hmg/10.4.371. Hum Mol Genet. 2001. PMID: 11157800

8

Characterization of a widely expressed gene (LUC7-LIKE; LUC7L) defining the centromeric boundary of the human alpha-globin domain.

Tufarelli C, Frischauf AM, Hardison R, Flint J, Higgs DR. Tufarelli C, et al. Genomics. 2001 Feb 1;71(3):307-14. doi: 10.1006/geno.2000.6394. Genomics. 2001. PMID: 11170747

9

Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype.

Anguita E, Sharpe JA, Sloane-Stanley JA, Tufarelli C, Higgs DR, Wood WG. Anguita E, et al. Among authors: tufarelli c. Blood. 2002 Nov 15;100(10):3450-6. doi: 10.1182/blood-2002-05-1409. Epub 2002 Jul 5. Blood. 2002. PMID: 12393394 Free article.

10

Comparative analysis of the alpha-like globin clusters in mouse, rat, and human chromosomes indicates a mechanism underlying breaks in conserved synteny.

Tufarelli C, Hardison R, Miller W, Hughes J, Clark K, Ventress N, Frischauf AM, Higgs DR. Tufarelli C, et al. Genome Res. 2004 Apr;14(4):623-30. doi: 10.1101/gr.2143604. Genome Res. 2004. PMID: 15060003 Free PMC article.

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