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Results 1 - 9 of 9 for West syndrome
  1. CDKL5 gene 
    The CDKL5 gene provides instructions for making a protein that is found in cells and tissues throughout the body. However, it is most active in the brain ...
    https://medlineplus.gov/genetics/gene/cdkl5 - Genetics
  2. FOXG1 gene 
    ... also been identified in several infants diagnosed with West syndrome, a condition characterized by epilepsy that begins in ... Osborne LR, Gimelli G, Minetti C, Zara F. West syndrome associated with 14q12 duplications harboring FOXG1. Neurology. 2011 ...
    https://medlineplus.gov/genetics/gene/foxg1 - Genetics
  3. BLM gene 
    ... gov/books/NBK1398/ Citation on PubMed Liu Y, West SC. More complexity to the Bloom's syndrome complex. Genes Dev. 2008 Oct 15;22(20): ...
    https://medlineplus.gov/genetics/gene/blm - Genetics
  4. KRAS gene 
    ... Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3):331-6. ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  5. OCRL gene 
    ... 2005.00311.x. Citation on PubMed Luo N, West CC, Murga-Zamalloa CA, Sun L, Anderson RM, Wells CD, Weinreb RN, Travers JB, Khanna H, Sun Y. OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. Hum Mol Genet. 2012 Aug 1;21(15): ...
    https://medlineplus.gov/genetics/gene/ocrl - Genetics
  6. BRCA2 gene 
    ... Kong E, Malivert L, McIlwraith MJ, Pape T, West SC, Zhang X. Structure and ... Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. Obstet Gynecol ...
    https://medlineplus.gov/genetics/gene/brca2 - Genetics
  7. HLA-B gene 
    ... by mosquitoes. HLA-B53 is most common in West African populations, where malaria is a frequent cause ... leukocyte antigen and malaria parasite types in two West African populations. Infect Immun. 2005 Feb;73(2): ...
    https://medlineplus.gov/genetics/gene/hla-b - Genetics
  8. TTR gene 
    ... of African Americans and 5 percent of some West African populations have this variant.Most of the ... Condition MedlinePlus Genetics provides information about Carpal tunnel syndrome More About This Health Condition In some older ...
    https://medlineplus.gov/genetics/gene/ttr - Genetics
  9. CUL3 gene 
    ... Yarbrough B, Meermeier NP, Park HJ, McCully B, West M, Borschewski A, Himmerkus N, Bleich M, Bachmann ... E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing ...
    https://medlineplus.gov/genetics/gene/cul3 - Genetics