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Results 1 - 10 of 287 for Human
  1. Prion disease 
    ... of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain ... is a type of acquired prion disease in humans that results from eating beef products containing PrPSc ...
    https://medlineplus.gov/genetics/condition/prion-disease - Genetics
  2. T-cell immunodeficiency, congenital alopecia, and nail dystrophy 
    ... with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. Clin Genet. 2008 Apr; ... Ott J, Brissette JL, Christiano AM. Exposing the human nude phenotype. Nature. 1999 Apr 8;398(6727): ...
    https://medlineplus.gov/...cy-congenital-alopecia-and-nail-dystrophy - Genetics
  3. Bare lymphocyte syndrome type II 
    ... Severe combined immunodeficiency due to absent class II human leukocyte antigens Severe combined immunodeficiency, HLA class II- ...
    https://medlineplus.gov/.../bare-lymphocyte-syndrome-type-ii - Genetics
  4. Isolated growth hormone deficiency 
    ... dwarfism Isolated GH deficiency Isolated HGH deficiency Isolated human growth hormone deficiency Isolated somatotropin deficiency Isolated somatotropin ...
    https://medlineplus.gov/.../isolated-growth-hormone-deficiency - Genetics
  5. Beta-mannosidosis 
    ... Leipprandt JR, Macek M, Kleijer WJ, Friderici KH. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. Hum Mol Genet. 1998 Jan;7( ...
    https://medlineplus.gov/genetics/condition/beta-mannosidosis - Genetics
  6. Congenital leptin deficiency 
    ... T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. J Clin Invest. 2002 Oct; ... is associated with severe early-onset obesity in humans. Nature. 1997 Jun 26;387(6636):903-8. ...
    https://medlineplus.gov/.../condition/congenital-leptin-deficiency - Genetics
  7. Proopiomelanocortin deficiency 
    ... H, Biebermann H, Gruters A. Mutations in the human proopiomelanocortin gene. Ann N Y Acad Sci. 2003 ... red hair pigmentation caused by POMC mutations in humans. Nat Genet. 1998 Jun;19(2):155-7. ...
    https://medlineplus.gov/.../condition/proopiomelanocortin-deficiency - Genetics
  8. Hypermethioninemia 
    ... Mudd SH. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl ... A glycine N-methyltransferase knockout mouse model for humans with deficiency of this enzyme. Transgenic Res. 2006 ...
    https://medlineplus.gov/genetics/condition/hypermethioninemia - Genetics
  9. Familial candidiasis 
    ... traits causing susceptibility to mucocutaneous fungal infections in human subjects. J Allergy Clin Immunol. 2012 Feb;129( ... 966. Citation on PubMed Filler SG. Insights from human studies into the host defense against candidiasis. Cytokine. ...
    https://medlineplus.gov/genetics/condition/familial-candidiasis - Genetics
  10. Piebaldism 
    ... of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet. 1995 Jan;56( ... Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct ...
    https://medlineplus.gov/genetics/condition/piebaldism - Genetics
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