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43 results

  1. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish ... 
    https://www.ncbi.nlm.nih.gov/books/NBK558237
    ... SAMHD1 Cerebral vasculopathy and early onset stroke (See Aicardi-Goutierès Syndrome .) AR c.1411-2A>G (IVS12-2A>G) -- ~ ...
  2. NGLY1-Related Congenital Disorder of Deglycosylation - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK481554
    ... with low HVA include mitochondrial disorders , glycine encephalopathy , Aicardi-Goutières syndrome , Rett syndrome (see MECP2 Disorders ), myotonic dystrophy type ...
  3. CSF1R-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100239
    ... medulla. ADAR IFIH1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1 Aicardi-Goutières syndrome AD AR Neurodegeneration Chilblain skin lesions AQP4 GPRC5B ...
  4. Hereditary Dystonia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1155
    ... AR GALT Newborn screening Encephalopathy with uncertain pathogenesis Aicardi-Goutières syndrome AD, AR ADAR , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , TREX1 ...
  5. NLM Digital Collections - Donald Goldman, 1989-1994 
    https://resource.nlm.nih.gov/101083016X135
    ... we must guard against it. About Face/CANADA Aicardi Syndrome Newsletter Alabama Socisty tor Sleep Disorders Amarican Behcet's ...
  6. CDKL5 Deficiency Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK602610
    ... R)) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes. Epilepsy Behav. 2018;86:131-7. [ PubMed : 30006259 ] ...
  7. NLM Digital Collections - Staphylococcal infection : a bibliography, covering literature of 1952 through May 1958 
    Publication: Washington, D.C. : Dept. of Health, Education, and Welfare, Public Health Service, [1958]
    resource.nlm.nih.gov/59810860R
    ... England J„ M., 1957, 256: 625-628. 15 références, 20 Aicardi, J. Traitement des staphylococcies pleuropulmonaire. S Vie méd., Par., ... Clin. Path., Lond., 1956, 9: 131-135. 20 références, 101. Coste, F., Delbarre, F., ... F. Syndrome malin S apparenté au phénomène de Schwartzman au cours ...
  8. SCN1A Seizure Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1318
    ... posted live 13 October 2006 (msm) Original submission References Literature Cited Aljaafari D, Fasano A, Nascimento FA, Lang AE, Andrade DM. Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to ...
  9. SCN9A Neuropathic Pain Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1163
    ... 26–39. [ PubMed : 21698661 ] Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson ... [ PubMed : 17679678 ] Fischer ...
  10. NLM Digital Collections - Index-catalogue of the Library of the Surgeon General's Office, National Library of Medicine .... 
    Publication: Washington : U.S. Dept. of Health, Education, and Welfare, Public Health Service : G.P.O., 1959-1961
    resource.nlm.nih.gov/8209737X2
    ... Regional analgesia for intra- abdominal surgery; with special reference to amethocaine hydrochloride. London, 1943. 57p. Judovich, B. D., & Bates, W. Pain Syndromes; treatment by paravertebral nerve block. 3. ed. Philadelphia, ...
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