Found: 15
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Pregnancy after preimplantation genetic diagnosis for Ataxia Telangiectasia.
- Published in:
- Molecular Human Reproduction, 2002, v. 8, n. 8, p. 785, doi. 10.1093/molehr/8.8.785
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- Publication type:
- Article
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
- Published in:
- 2018
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- Publication type:
- journal article
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 305, doi. 10.1038/ejhg.2011.196
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- Publication type:
- Article
ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.
- Published in:
- Breast Cancer Research & Treatment, 2010, v. 119, n. 2, p. 443, doi. 10.1007/s10549-009-0396-z
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- Publication type:
- Article
Ataxia-Telangiectasia genes and breast cancer risk in a French family study.
- Published in:
- Journal of Dairy Research, 2005, v. 72, n. 1, p. 73, doi. 10.1017/s0022029905001147
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- Publication type:
- Article
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.
- Published in:
- Carcinogenesis, 2017, v. 38, n. 10, p. 994, doi. 10.1093/carcin/bgx074
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- Publication type:
- Article
Variation in breast cancer risk of heterozygotes for ataxia-telangiectasia according to environmental factors.
- Published in:
- International Journal of Cancer, 2002, v. 99, n. 4, p. 619, doi. 10.1002/ijc.10367
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- Publication type:
- Article
Cancer risk in heterozygotes for ataxia-telangiectasia.
- Published in:
- International Journal of Cancer, 2001, v. 93, n. 2, p. 288, doi. 10.1002/ijc.1329
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- Publication type:
- Article
No evidence for germline PTEN mutations in families with breast and brain tumours.
- Published in:
- International Journal of Cancer, 1999, v. 84, n. 3, p. 216, doi. 10.1002/(SICI)1097-0215(19990621)84:3<216::AID-IJC3>3.0.CO;2-E
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- Publication type:
- Article
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. 325, doi. 10.1002/humu.21414
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- Publication type:
- Article
Fertility defects revealing germline biallelic nonsense NBN mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 424, doi. 10.1002/humu.20904
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- Publication type:
- Article
Evaluation of in silico splice tools for decision-making in molecular diagnosis.
- Published in:
- Human Mutation, 2008, v. 29, n. 7, p. 975, doi. 10.1002/humu.20765
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- Publication type:
- Article
Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
- Published in:
- Movement Disorders, 2013, v. 28, n. 13, p. 1897, doi. 10.1002/mds.25487
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- Publication type:
- Article
Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation.
- Published in:
- Human Mutation, 2003, v. 21, n. 2, p. 169, doi. 10.1002/humu.9107
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- Publication type:
- Article
A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers.
- Published in:
- 2021
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- Publication type:
- journal article