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120 results

  1. 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. ... 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 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. ...
  4. ... 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 ...
  5. ... site></health-topic><health-topic ><full-summary ><p>Ataxia-telangiectasia (A-T) is a rare, inherited disease. It ... group >Genetics/Birth Defects</group><language-mapped-topic >Ataxia telangiectasia</language-mapped-topic><mesh-heading ><descriptor >Ataxia Telangiectasia</ ...
  6. ... published></health-condition-summary><health-condition-summary ><name >Ataxia-telangiectasia</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  7. ... 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 ...
  8. ... 91 (dysplastic adj nevus adj syndrome).tw. 92 Ataxia Telangiectasia/ 93 (ataxia-telangiectasia or (ataxia adj telangiectasia)).tw. 94 (Louis adj ... or p16 or STK11 or ATM).tw. 87 ataxia telangiectasia/ 88 (ataxia-telangiectasia or (ataxia adj telangiectasia)).tw. ...
  9. ... cancer risk, including those in Bloom syndrome and ataxia-telangiectasia. Further investigation has revealed that FANCD1 is the ... in cultures from people who have XP and ataxia-telangiectasia were normal.[ 224 ] The gene product of the ...
  10. ... family history; and exclusion of the diagnosis of ataxia-telangiectasia, AOA1, and AOA4. Identification of biallelic pathogenic variants ... lower than that usually observed in individuals with ataxia-telangiectasia [ Mariani et al 2017 ]. Increased serum total cholesterol ...
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