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43 results

  1. Aicardi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1381
    ... posted live 2 August 2005 (ivv) Original submission References Literature Cited Aicardi J. Aicardi Syndrome: Old and new findings. Internat Pediatr. 1999;14: ...
  2. Brain Malformations | MedlinePlus 
    https://medlineplus.gov/brainmalformations.html
    ... System Malformations (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine) Article: Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome. Article: Comparison of USG-MRI and post-natal ...
  3. Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546576
    ... View in own window Gene Phenotype 1 TREX1 Aicardi-Goutières ... entry, or cited reference for more information. 2. Pathogenic variants typically affect ...
  4. Aicardi-Goutières Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1475
    ... TREX1 Data are compiled from the following standard references: gene from ... Aicardi-Goutieres Syndrome ( View All in OMIM ) View in own window ...
  5. Polymicrogyria 
    https://medlineplus.gov/genetics/condition/polymicrogyria
    ... include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum ... DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the ... CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2005 Apr 18 [updated 2018 Aug 16]. ...
  6. Childhood Liver Cancer Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65790
    ... 90%) die in the first year of life. Aicardi syndrome Aicardi syndrome is presumed to be an X-linked condition ... 6, 2003. [ PubMed : 12939582 ] Kamien BA, Gabbett MT: Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. Am J ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/aicardi-syndrome</url><title >Aicardi syndrome</title><other_names ><other_name >Agenesis of corpus ...
  8. pdf2018MeShTreeHierarchy.pdf 
    https://www.nlm.nih.gov/mesh/2018/download/2018MeShTreeHierarchy.pdf
    ... 034.500...........................................Acrocallosal Syndrome C10.500.034.687...........................................Aicardi Syndrome C10.500.034.875...........................................Holoprosencephaly C10.500.142........................................... ...
  9. Microphthalmia with Linear Skin Defects Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK7041
    ... Brain malformation 2 Psychomotor impairment & episodes of seizures Aicardi syndrome ? XL Microphthalmia Pigmentary lesions of the skin In Aicardi syndrome: 3 Agenesis of the corpus callosum Distinctive chorioretinal ...
  10. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... 8504785 ] 897. Tsao CY, Sommer A, Hamoudi AB. Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma. ... Kiristioglu I, Kilic N, Gurpinar AN, et al. Aicardi syndrome associated with palatal hemangioma. Eur J Pediatr Surg. ...
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