Group of diseases

Articles

• biliary acid metabolism anomalies
  14 December 2004

  Bile acid synthesis anomalies, bile acid metabolism anomalies

• hepatic vascular malformations
  24 November 2003

  liver vascular malformations

• cutaneous tumors
  5 June 2003

  skin tumours , cutaneous neoplasms
  Localization
  epidermal tumors (tumors of the epidermis)
  dermal tumors (tumors of the dermis)
  cutaneous adnexal tumors
  hypodermal tumors (tumors of the hypodermis)
  Appearance
  cutaneous small cell tumors
  cutaneous clear cell tumors
  cutaneous large cell tumors
  cutaneous fusiform cell tumors
  cutaneous basaloid cell tumors
  Classification
  cutaneous epithelial tumors
  epidermal tumors (tumors of the epidermis )
  cutaneous squamous cell (...)

• polycystic kidney diseases
  24 October 2003

  PKDs, polycystic renal diseases, renal polycystosis
  Images
  Autosomal dominant polycystic Kidney Disease (ADPKD)
  https://twitter.com/yasminelys/status/745183710237048832
  Digital cases (Digital slides)
  HPC4 : autosomal dominant polycystic kidney disease (ADPKD)
  UI:763 : autosomal dominant polycystic kidney disease (ADPKD)
  Classification
  autosomal dominant polycystic kidney disease (ADPKD)
  mutations in PKD1 (MIM.601313) (16p13) (ADPKD1)
  mutations in PKD2 (MIM.173910) (...)

• blood cells disorders
  31 May 2004

  Links
  The Crookston collection

• mature B-cell leukemias
  8 December 2003
• autoimmune diseases
  3 July 2003

  auto-immune diseases; autoimmunity
  Definition: Immune reactions against self-antigens-autoimmunity-are an important cause of certain diseases in humans, estimated to affect at least 1% to 2% of the US population.
  A growing number of diseases have been attributed to autoimmunity, but in many the evidence is not firm. Autoantibodies can be found in the serum of apparently normal individuals, particularly in older age groups.
  Furthermore, innocuous autoantibodies are also formed after (...)

• oral myasis
  2 March 2004

  Etiology
  Chrysomya bezziana (#14660813#)

• congenital eye defects
  25 November 2003

  References
  Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet. 2003 Nov;4(11):876-88. PMID: #14634635#

• retinal dystrophies
  25 November 2003

  Exemples
  Doyne honeycomb retinal dystrophy (malattia leventinese) (MIM.126600)
  References
  Gregory-Evans K, Bhattacharya SS. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet. 1998 Mar;14(3):103-8. PMID: #9540407#
  Chapple JP, Grayson C, Hardcastle AJ, Saliba RS, van der Spuy J, Cheetham ME. Unfolding retinal dystrophies: a role for molecular chaperones? Trends Mol Med. 2001 Sep;7(9):414-21. PMID: (...)

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