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Items: 1 to 20 of 61

1.

Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.

Gilad S, Khosravi R, Harnik R, Ziv Y, Shkedy D, Galanty Y, Frydman M, Levi J, Sanal O, Chessa L, Smeets D, Shiloh Y, Bar-Shira A.

Hum Mutat. 1998;11(1):69-75.

PMID:
9450906
2.
4.

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.

Concannon P, Gatti RA.

Hum Mutat. 1997;10(2):100-7. Review.

PMID:
9259193
5.

Recombinant ATM protein complements the cellular A-T phenotype.

Ziv Y, Bar-Shira A, Pecker I, Russell P, Jorgensen TJ, Tsarfati I, Shiloh Y.

Oncogene. 1997 Jul 10;15(2):159-67.

6.

Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.

Watters D, Khanna KK, Beamish H, Birrell G, Spring K, Kedar P, Gatei M, Stenzel D, Hobson K, Kozlov S, Zhang N, Farrell A, Ramsay J, Gatti R, Lavin M.

Oncogene. 1997 Apr 24;14(16):1911-21.

7.

The genetic defect in ataxia-telangiectasia.

Lavin MF, Shiloh Y.

Annu Rev Immunol. 1997;15:177-202. Review.

PMID:
9143686
8.

Responses to DNA damage and regulation of cell cycle checkpoints by the ATM protein kinase family.

Hoekstra MF.

Curr Opin Genet Dev. 1997 Apr;7(2):170-5. Review.

PMID:
9115420
9.

Ataxia-telangiectasia: structural diversity of untranslated sequences suggests complex post-transcriptional regulation of ATM gene expression.

Savitsky K, Platzer M, Uziel T, Gilad S, Sartiel A, Rosenthal A, Elroy-Stein O, Shiloh Y, Rotman G.

Nucleic Acids Res. 1997 May 1;25(9):1678-84.

10.

Defective signaling through the B cell antigen receptor in Epstein-Barr virus-transformed ataxia-telangiectasia cells.

Khanna KK, Yan J, Watters D, Hobson K, Beamish H, Spring K, Shiloh Y, Gatti RA, Lavin MF.

J Biol Chem. 1997 Apr 4;272(14):9489-95.

11.

The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage.

Brown KD, Ziv Y, Sadanandan SN, Chessa L, Collins FS, Shiloh Y, Tagle DA.

Proc Natl Acad Sci U S A. 1997 Mar 4;94(5):1840-5.

12.

Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

Vorechovský I, Luo L, Prudente S, Chessa L, Russo G, Kanariou M, James M, Negrini M, Webster AD, Hammarström L.

Eur J Hum Genet. 1996;4(6):352-5.

PMID:
9043869
13.

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Saar K, Chrzanowska KH, Stumm M, Jung M, Nürnberg G, Wienker TF, Seemanová E, Wegner RD, Reis A, Sperling K.

Am J Hum Genet. 1997 Mar;60(3):605-10.

14.

Analysis of the ATM protein in wild-type and ataxia telangiectasia cells.

Lakin ND, Weber P, Stankovic T, Rottinghaus ST, Taylor AM, Jackson SP.

Oncogene. 1996 Dec 19;13(12):2707-16.

PMID:
9000145
15.

The product of the ATM gene is a 370-kDa nuclear phosphoprotein.

Chen G, Lee EYHP.

J Biol Chem. 1996 Dec 27;271(52):33693-7.

16.

Ataxia-telangiectasia: founder effect among north African Jews.

Gilad S, Bar-Shira A, Harnik R, Shkedy D, Ziv Y, Khosravi R, Brown K, Vanagaite L, Xu G, Frydman M, Lavin MF, Hill D, Tagle DA, Shiloh Y.

Hum Mol Genet. 1996 Dec;5(12):2033-7.

PMID:
8968760
17.
18.

Predominance of null mutations in ataxia-telangiectasia.

Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A.

Hum Mol Genet. 1996 Apr;5(4):433-9.

PMID:
8845835
19.

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.

Güttler F, Guldberg P.

Eur J Pediatr. 1996 Jul;155 Suppl 1:S6-10. Review.

PMID:
8828600
20.

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

Wright J, Teraoka S, Onengut S, Tolun A, Gatti RA, Ochs HD, Concannon P.

Am J Hum Genet. 1996 Oct;59(4):839-46.

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