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Items: 19

1.

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

Bartsch O, Schindler D, Beyer V, Gesk S, van't Slot R, Feddersen I, Buijs A, Jaspers NG, Siebert R, Haaf T, Poot M.

Eur J Med Genet. 2012 Jan;55(1):49-55. doi: 10.1016/j.ejmg.2011.08.001. Epub 2011 Aug 27.

PMID:
21893220
2.

The ATM gene and ataxia telangiectasia.

Mavrou A, Tsangaris GT, Roma E, Kolialexi A.

Anticancer Res. 2008 Jan-Feb;28(1B):401-5. Review.

3.

[Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia].

Triki C, Feki I, Meziou M, Turki H, Zahaf A, Mhiri C.

Rev Neurol (Paris). 2000 Jul;156(6-7):634-7. Review. French.

PMID:
10891797
4.

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.

Taylor AM, Groom A, Byrd PJ.

DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1219-25. Review.

PMID:
15279810
5.

The role of ATM in DNA damage responses and cancer.

Canman CE, Lim DS.

Oncogene. 1998 Dec 24;17(25):3301-8. Review.

6.

[ATM and telomere instability].

Wang HM, Xia YF, Wu XY.

Yi Chuan Xue Bao. 2004 Feb;31(2):212-6. Review. Chinese.

PMID:
15473314
7.

Ataxia-telangiectasia: is ATM a sensor of oxidative damage and stress?

Rotman G, Shiloh Y.

Bioessays. 1997 Oct;19(10):911-7. Review.

PMID:
9363685
8.

[Ataxia telangiectasia].

Hosoi H, Sawada T.

Nihon Rinsho. 2000 Jul;58(7):1505-10. Review. Japanese.

PMID:
10921332
9.

Ataxia-telangiectasia, an evolving phenotype.

Chun HH, Gatti RA.

DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1187-96. Review.

PMID:
15279807
10.

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Białecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michałkiewicz J, Stachowski J, Gregorek H, Lysón-Wojciechowska G, et al.

Am J Med Genet. 1995 Jul 3;57(3):462-71. Review.

PMID:
7545870
11.

[Pathogenesis, diagnosis, clinical and therapeutic aspects of ataxia telangiectasia].

Güngör T, Bühring I, Cremer R, Gartenschläger M, Zielen S.

Klin Padiatr. 1997 Sep-Oct;209(5):328-35. Review. German.

PMID:
9411043
12.

[Ataxia-telangiectasia: a review].

Bott L, Thumerelle C, Cuvellier JC, Deschildre A, Vallée L, Sardet A.

Arch Pediatr. 2006 Mar;13(3):293-8. Epub 2006 Jan 19. Review. French.

PMID:
16423518
13.

ATM: the protein encoded by the gene mutated in the radiosensitive syndrome ataxia-telangiectasia.

Lavin MF, Khanna KK.

Int J Radiat Biol. 1999 Oct;75(10):1201-14. Review.

PMID:
10549596
14.

The ATM-dependent DNA damage signaling pathway.

Kitagawa R, Kastan MB.

Cold Spring Harb Symp Quant Biol. 2005;70:99-109. Review.

PMID:
16869743
15.

ATM--a key determinant of multiple cellular responses to irradiation.

Kastan MB, Lim DS, Kim ST, Yang D.

Acta Oncol. 2001;40(6):686-8. Review.

PMID:
11765061
16.

Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene.

Meyn MS.

Clin Genet. 1999 May;55(5):289-304. Review.

PMID:
10422797
17.

Ataxia telangiectasia gene mutations in leukaemia and lymphoma.

Boultwood J.

J Clin Pathol. 2001 Jul;54(7):512-6. Review.

18.

The many substrates and functions of ATM.

Kastan MB, Lim DS.

Nat Rev Mol Cell Biol. 2000 Dec;1(3):179-86. Review.

PMID:
11252893
19.

[Ataxia telangiectasia and characterization of its immunological disorders].

Matsumoto S, Sakiyama Y, Kajii N, Okano M, Ishizaka A, Ariga T.

No To Hattatsu. 1990 Mar;22(2):103-11. Review. Japanese.

PMID:
2158803

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