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319 results
  1. Ataxia Telangiectasia 
    https://medlineplus.gov/ataxiatelangiectasia.html
    Ataxia Telangiectasia (AT) is an inherited disease that affects several body systems, including the nervous system and immune ... Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other ...
  2. Ataxia-Telangiectasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK26468
    ... Search term GeneReviews Advanced Search Help < Prev Next > Ataxia-Telangiectasia Stefanie Veenhuis , MD, Nienke van Os , MD, PhD, ... info@atsociety.org.uk www.atsociety.org.uk Ataxia-Telangiectasia in Children Guidance on diagnosis and clinical care ...
  3. Ataxia-telangiectasia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/ataxia-telangiectasia
    ... tumors. Learn more about the gene associated with Ataxia-telangiectasia ATM Inheritance Ataxia-telangiectasia is inherited in an ...
  4. Ataxia - telangiectasia 
    https://medlineplus.gov/ency/article/001394.htm
    Ataxia-telangiectasia is a rare childhood disease. It affects the brain and other parts of the body. Ataxia ... Ataxia-telangiectasia is inherited. This means it is passed down through families. It is an autosomal recessive trait. ...
  5. ATM gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/atm
    ... cancer research. Health Conditions Related to Genetic Changes Ataxia-telangiectasia Researchers have identified several hundred variants (also called mutations) in the ATM gene that cause ataxia-telangiectasia. This disorder is characterized by progressive difficulty with ...
  6. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Ataxias C10.228.140.252.190.530.060 Ataxia Telangiectasia C10.228.140.252.190.530.530 Machado- ... Neurofibrosarcoma C10.562 Neurocutaneous Syndromes C10.562.100 Ataxia Telangiectasia C10.562.600 Neurofibromatoses C10.562.600.500 ...
  7. Hereditary Ataxia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1138
    ... ataxia ) or before age five years (e.g., ataxia-telangiectasia ). The first manifestation of ataxia can include: Most ... oculomotor apraxia, extrapyramidal features, immunodeficiency, cancer risk, ↑ alphafetoprotein Ataxia-Telangiectasia CACNA1A 2 AD + Episodic ataxia type 2 (OMIM ...
  8. xmlmplus_topics_2024-11-20.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-11-20.xml
    ... Louis-Bar</also-called><full-summary ><p>La ataxia telangiectasia (AT) es una enfermedad hereditaria poco frecuente. Afecta ... Genética y defectos congénitos</group><language-mapped-topic >Ataxia Telangiectasia</language-mapped-topic><primary-institute >Instituto Nacional de ...
  9. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Ataxia-telangiectasia</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  10. Genetics of Breast and Gynecologic Cancers (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65767
    ... Genetics of Colorectal Cancer for more information.) ATM Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by ... Shira A, Gilad S, et al.: A single ataxia telangiectasia gene with a product similar to PI-3 ...
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