Useful References

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Blackburn EH. Telomeres: structure and synthesis. J Biol Chem. 1990; 265(11): 5919-5921.

Brown WR, MacKinnon PJ, Villasante A, Spurr N, Buckle VJ, Dobson MJ. Structure and polymorphism of human telomere-associated DNA. Cell. 1990; 63(1): 119-132.

Cross S, Lindsey J, Fantes J, McKay S, McGill N, Cooke J. The structure of a subterminal repeated sequence present on many human chromosomes. Nucleic Acids Res. 1990; 18: 6649-6657.

Cross SH, Allshire RC, McKay SJ, McGill NI, Cooke HJ. Cloning of human telomeres by complementation in yeast. Nature. 1989; 338: 771-774.

Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly:  a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA. 1993; 270: 2838-2842.

Flint J, Bates GP, Clark K, Dorman A, Willingham D, Roe BA, Micklem G, Higgs DR, Louis EJ. Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains. Hum Mol Genet. 1997a; 6(8): 1305-1313.

Flint J, Thomas K, Micklem G, Raynham H, Clark K, Doggett NA, King A, Higgs DR. The relationship between chromosome structure and function at a human telomeric region. Nat Genet. 1997b; 15(3): 252-257.

Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet. 1995; 9(2): 132-140.

Lahn BT, Ma N, Breg WR, Stratton R, Surti U, Page DC. Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype. Nat Genet. 1994; 8: 243-250.

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Ledbetter DH. Cryptic translocations and telomere integrity. Am J Hum Genet. 1992; 51: 451-456.

Macina RA, Negorev DG, Spais C, Ruthig LA, Hu XL, Riethman HC. Sequence organization of the human chromosome 2q telomere. Hum. Mol. Genet. 1994; 3: 1847-1853.

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Moyzis RK, Buckingham JM, Cram LS, Dani M, Deaven LL, Jones MD, Meyne J, Ratliff RL, Wu JR. A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. Proc. Natl. Acad. Sci. USA. 1988; 85: 6622-6626.

National Institutes of Health, Institute of Molecular Medicine Collaboration, Ning Y, Roschke A, Smith AC, Macha M, Precht K, Riethman H, Ledbetter D, Flint J, Horsley S, Regan R, Kearney K, Knight S, Kvaloy K, Brown WRA. A complete set of human telomeric probes and their clinical application. Nat Genet. 1996; 14: 86-89.

Ning Y, Rosenberg M, Biesecker LG, Ledbetter DH. Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities. Hum Genet. 1996; 97: 765-769.

Riethman HC, Moyzis RK, Meyne J, Burke DT, Olson MV. Cloning human telomeric DNA fragments into Saccharomyces cerevesiae using a yeast artificial chromosome vector. Proc. Natl. Acad. Sci. USA. 1989; 86: 6240-6244.

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Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C. Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nat Genet. 1994; 7: 414-419.

Wilkie AO, Higgs DR, Rack KA, Buckle VJ, Spurr NK, Fischel-Ghodsian N, Ceccherini I, Brown WR, Harris PC. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell. 1991; 64(3): 595-606.

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Wong AC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, McDermid HE. Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am J Hum Genet. 1997; 60(1): 113-120.

Youngman S, Bates GP, Williams S, McClatchey AI, Baxendale S, Sedlacek Z, Altherr M, Wasmuth JJ, MacDonald ME, Gusella JF, Sheer D, Lehrach H. The telomeric 60 kb of chromosome 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. Genomics. 1992; 14: 350-356.