Ataxia telangiectasia

Seminars in Pediatric Neurology

Volumn 5, Issue 4, 1998, Pages 287-294

  Crawford, T O ^a  

^a JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; DEGENERATIVE DISEASE; FAMILY PLANNING; HUMAN; MOLECULAR CLONING; NEUROPATHOLOGY; PHENOTYPE; REVIEW; SKIN MANIFESTATION;

EID: 0032437910     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1071-9091(98)80007-7     Document Type: Article

References (43)

1. Savitsky K Bar-Shira A Gilad S A single ataxia telangiectasia gene with a product similar to PI-3 kinase Science 268 1995 1749 1753
2. http://www.med.jhu.edu/ataxia
3. Woods CG Bundey SE Taylor AM Unusual features in the inheritance of ataxia telangiectasia Hum Genet 84 1990 555 562
4. Sedgwick RP Boder E Ataxia-telangiectasia Vinken PJ Bruyn GW Handbook of Clinical Neurology vol 14 1972 North Holland Publishing Amsterdam 267 339
5. Telatar M Teraoka S Wang Z Ataxia-telangiectasia: Identification and detection of founder-effect mutations in the ATM gene in ethnic populations Am J Hum Genet 62 1998 86 97
6. Concannon P Gatti RA Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia Hum Mutat 10 1997 100 107
7. http://www.vmmc.org/vmrc/atm.htm
8. Boder E Sedgwick RP A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection: A preliminary report on 7 children, an autopsy, and a case history Univ Southern Calif. Med Bull 9 1957 15 28
9. Hereditary Neuropathies and Spinocerebellar Atrophies Sedgwick RP Boder E Ataxia-telangiectasia de Jong JMJV Handbook of clinical neurology vol 16 1991 Elsevier Amsterdam 347 423
10. Syllaba L Henner K Contribution à l'indépendance de l'athétose double idiopathique et congénitale: Atteinte familiale, syndrome dystrophique, signe du réseau vasculaire conjonctival, intégrité psychique Rev Neurol 1 1926 541 562
11. Louis-Bar D Sur un syndrome progressif comprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et de troubles cérebélleux Confin Neurol (Basel) 4 1941 32 42
12. No 8 Boder E Sedgwick RP Ataxia-telangiectasia: A review of 101 cases Walsh G Little Club Clinics in Develop Med 1963 Hennemann London
13. Thieffry S Arthuis M Aicardi J L'ataxie-télangiectasie Rev Neurol 105 1961 390 405
14. Peterson RDA Glaw M Good RA Ataxia-telangiectasia: A possible clinical counterpart of the animals rendered immunologically incompetent by thymectomy J Pediatr 63 1963 701 703
15. Barlow MH McFarlin DE Schalch DS An unusual type of diabetes mellitus with marked hyperinsulinism in patients with ataxia telangiectasia Clin Res 13 1965 530
16. Tadjoedin MK Fraser FC Heredity of ataxia-telangiectasia (Louis-Bar syndrome) Am J Dis Child 110 1965 64 68
17. Cohen MM Kahn G Dagan J Chromosomes in ataxia telangiectasia Lancet 2 1973 1500
18. Gotoff SP Amirmokri E Liebner EJ Ataxia-telangiectasia: Neoplasia, untoward response to X-irradiation, and tuberous sclerosis Am J Dis Child 114 1967 617 625
19. Higurashi M Cones PE In vitro chromosomal radiosensitivity in “chromosomal breakage syndromes” Cancer 32 1973 380 383
20. Waldman TA McIntire KR Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia Lancet II 1972 1112 1115
21. Woods CG Taylor AM Ataxia telangiectasia in the British Isles: The clinical and laboratory features of 70 affected individuals Q J Med 82 1992 169 179
22. abstr Lewis RF Crawford TO Ocular motor abnormalities in ataxia telangiectasia American Academy of Neurology 50 suppl 4 1998 A10
23. Taylor AM Flude E Laher B Variant forms of ataxiatelangiectasia J Med Genet 24 1987 669 677
24. Cabana MD Crawford TO Winkelstein JA Consequences of the delayed diagnosis of ataxia-telangiectasia Pediatrics 102 1998 98 100
25. Gatti RA Boder E Vinters HV Ataxia-telangiectasia—an interdisciplinary approach to pathogenesis Medicine 70 1991 90 117
26. Lipkowitz S Stern M-H Kirsch IR Hybrid T cell receptor genes formed by interlocus recombination in normal and ataxia-telangiectasia lymphocytes J Exp Med 172 1990 409 418
27. Taylor AM Metcalfe JA Thick J Leukemia and lymphoma in ataxia telangiectasia Blood 87 1996 423 438
28. Swift M Reitnauer PJ Morrell D Breast and other cancers in families with ataxia-telangiectasia N Engl J Med 316 1987 1289 1294
29. Athma P Rappaport R Swift M Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer Cancer Genet Cytogenet 92 1996 130 134
30. FitzGerald MG Bean JM Hedge SR Heterozygous ATM mutations do not contribute to early onset of breast cancer Nature Genetics 15 1997 307 310
31. Vorechovsky I Luo L Dyer MJS Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia Nature Genetics 17 1997 96 99
32. Metcalf JA Parkhill J Campbell L Accelerated telomere shortening in ataxia telangiectasia Nature Genetics 13 1996 350 353
33. Gatti RA Vinters HV Cerebellar pathology in ataxia-telangiectasia: The significance of basket cells Kroc Found Ser 19 1985 225 232
34. Vinters HV Gatti RA Rakic P Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia-telangiectasia Kroc Found Ser 19 1985 233 235
35. Aicardi J Barbosa C Andermann E Ataxia-ocular motor apraxia: A syndrome mimicking ataxia-telangiectasia Ann Neurol 24 1988 497 502
36. Gatti RA Berkel I Boder E Localization of an ataxia-telangiectasia gene to chromosome 11q22-23 Nature 336 1988 577 580
37. McConville CM Stankovic T Byrd PJ Mutations associated with variant phenotypes in ataxia-telangiectasia Am J Hum Genet 59 1996 320 330
38. Kastan MB Zhan Q El-Deiry WS A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia Cell 71 1992 587 597
39. Rotman G Shiloh Y Ataxia-telangiectasia: Is ATM a sensor of oxidative damage and stress? Bioessays 19 1997 911 917
40. Plug AW Peters AH Xu Y ATM and RPA in meiotic chromosome synapsis and recombination Nature Genetics 17 1997 457 461
41. Barlow C Hirotsune S Paylor R ATM-deficient mice: A paradigm of ataxia telangiectasia Cell 86 1996 159 171
42. Elson A Wang Y Daugherty CJ Pleiotropic defects in ataxia-telangiectasia protein-deficient mice Proc Natl Acad Sci USA 93 1996 13084 13089
43. Xu Y Ashley T Brainerd EE Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma Genes Dev 10 1996 2411 2422