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Precision Health Database


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Rare Diseases

Last data update: Jun 01, 2023. (Total: 60047 Documents since 2012)
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Records 1 - 18 (of 18 Records)

Query Trace: Ataxia Telangiectasia[original query]>>Original Studies[Product Type]
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson Benjamin L et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200269
Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.
Boyarchuk Oksana et al. Frontiers in immunology 2022 13999664
Genetics of ataxia telangiectasia in a highly consanguineous population.
Al-Muhaizea Mohammed A et al. Annals of human genetics 2021
Spectrum of Hematological Malignancies, Clonal Evolution and Outcomes in 144 Mayo Clinic Patients with Germline Predisposition Syndromes.
St Martin Emma et al. American journal of hematology 2021
Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
Hall Michael J et al. Cancer prevention research (Philadelphia, Pa.) 2021 Jan
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola Amarilla B et al. Frontiers in immunology 2019 102940
Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438
Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.
Schoenaker M H D et al. European journal of pediatrics 2019 Nov
Association of Tumor Protein p53 and Ataxia-Telangiectasia Mutated Comutation With Response to Immune Checkpoint Inhibitors and Mortality in Patients With Non-Small Cell Lung Cancer.
Chen Yu, et al. JAMA network open 2019 9 0. (9) e1911895
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada Ayako et al. Brain & development 2018 Oct
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
Nourizadeh Maryam et al. Scandinavian journal of immunology 2018 Jun e12699
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault Anne-Laure et al. Breast cancer research : BCR 2018 Apr 20(1) 28
Racial Disparities in the Molecular Landscape of Cancer.
Heath Elisabeth I et al. Anticancer research 2018 38(4) 2235-2240
The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.
Olszewska Diana A et al. Irish journal of medical science 2018 Mar
Pancreatic cancer screening in high-risk individuals with germline genetic mutations.
DaVee Tomas et al. Gastrointestinal endoscopy 2018 Jan
A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
Buys Saundra S et al. Cancer 2017 Jan
Genetic Counselors' Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels.
Mets Sarah et al. Journal of genetic counseling 2015 Oct
Newborn screening for SCID identifies patients with ataxia telangiectasia.
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