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Scholar Results 1 - 10 of about 101 related to Su: Mortality rates among carriers of ataxia-telangiectasia mutant alleles. (0.12 sec) 

Mortality rates among carriers of ataxia-telangiectasia mutant alleles

- annals.org [PDF] 
Y Su, M Swift - Annals of Internal Medicine, 2000 - Am Coll Physicians
Mortality Rates among Carriers of Ataxia-Telangiectasia Mutant Alleles ... Yun
Su, MD, MPH, and Michael Swift, MD ... Background: Mutations at the
ataxia-telangiectasia locus cause a distinctive autosomal recessive ...
Cited by 52 - Related articles - BL Direct - All 7 versions

Missense mutations but not allelic variants alter the function of ATM by dominant interference …


SP Scott, R Bendix, P Chen, R Clark, T Dörk, … - Proceedings of the National Academy of Sciences of …, 2002 - National Acad Sciences
The human genetic disorder ataxia-telangiectasia (AT) is characterized by
hypersensitivity to ionizing radiation and an elevated risk of malignancy.
Epidemiological data support an increased risk for breast and other cancers ...
Cited by 104 - Related articles - BL Direct - All 9 versions

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences …


RA Gatti, A Tward, P Concannon - Molecular Genetics and Metabolism, 1999 - Elsevier
The failure to find an increased frequency of ATM mutations in large cancer
cohorts, especially breast cancer, is contrary to what was anticipated based on
the increased cancer susceptibility of obligate ATM heterozygotes from ...
Cited by 143 - Related articles - BL Direct - All 4 versions

Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries

- oxfordjournals.org
JH Olsen, JM Hahnemann, AL Borresen-Dale, K … - JNCI Journal of the National Cancer Institute, 2001 - jnci.oxfordjournals.org
Affiliations of authors: JH Olsen, N. Seersholm, Institute of Cancer
Epidemiology, Danish Cancer Society, Copenhagen, Denmark; JM Hahnemann, K.
Brøndum-Nielsen, John F. Kennedy Institute, Glostrup, Denmark; A.-L. ...
Cited by 124 - Related articles - BL Direct - All 8 versions

Cellular responses to ionising radiation of AT heterozygotes: differences between missense …


M Fernet, N Moullan, A Lauge, D Stoppa- … - British journal of cancer, 2004 - pubmedcentral.nih.gov
Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder
with neurological, cutaneous and immunological abnormalities. This disease is
associated with an elevated risk of malignancy, primarily leukaemias and ...
Cited by 21 - Related articles - BL Direct - All 4 versions

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and …


SG Becker-Catania, G Chen, MJ Hwang, Z … - Molecular Genetics and Metabolism, 2000 - Elsevier
Previous studies on a limited number of ataxia-telangiectasia (AT) patients with
detectable levels of intracellular ATM protein have suggested a
genotype/phenotype correlation. We sought to elucidate this possible ...
Cited by 59 - Related articles - BL Direct - All 4 versions

Increased frequency of ATM mutations in breast carcinoma patients with early onset disease …


SN Teraoka, KE Malone, DR Doody, NM Suter … - CA A Cancer Journal for Clinicians - interscience.wiley.com
An increased incidence of breast carcinoma has been reported among relatives of
individuals who are affected with the rare recessive disorder,
ataxia-telangiectasia (AT), and who are heterozygous for mutations in the ...
Cited by 90 - Related articles - BL Direct - All 5 versions

Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia


HM Inskip, LJ Kinlen, AMR Taylor, CG Woods, … - British journal of cancer, 1999 - pubmedcentral.nih.gov
Cited by 78 - Related articles - BL Direct - All 4 versions

Public health burden of cancer in ataxia-telangiectasia heterozygotes


M Swift - JNCI Journal of the National Cancer Institute, 2001 - jnci.oxfordjournals.org
An exceptionally high incidence of cancer was observed in patients with the rare
autosomal recessive syndrome AT (1) shortly after Boder and Sedgewick (2)
published their remarkably complete initial characterization of this ...
Cited by 15 - Related articles - BL Direct - All 6 versions

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: …

- nih.gov [PDF] 
T Stankovic, AMJ Kidd, A Sutcliffe, GM … - The American Journal of Human Genetics, 1998 - Elsevier
We report the spectrum of 59 ATM mutations observed in ataxia-telangiectasia
(AT) patients in the British Isles. Of 51 ATM mutations identified in families
native to the British Isles, 11 were founder mutations, and 2 of these 11 ...
Cited by 205 - Related articles - BL Direct - All 11 versions


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