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Results 1 - 10 of 88 for French
  1. Sialuria 
    ... individual's parent or during early embryonic development. French type sialuria Sialuria, French type Genetic Testing Registry: Sialuria Sialuria National Organization ...
    https://medlineplus.gov/genetics/condition/sialuria - Genetics
  2. GNE gene 
    The GNE gene provides instructions for making an enzyme that is found in cells and tissues throughout the body. This enzyme plays a key role in a chemical ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  3. Andermann syndrome 
    ... Andermann syndrome is most often seen in the French-Canadian population of the Saguenay-Lac-St.-Jean ... Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. Can J Neurol Sci. 2006 May; ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  4. VEXAS syndrome 
    ... Fain O, Sujobert P, Kosmider O, Mekinian A; French VEXAS group; GFEV, GFM, CEREMAIA, MINHEMON. Further characterization ... analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022 Mar;186(3): ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  5. PTPN11 gene 
    ... Beylot C, Baumann C, Verloes A, Cave H; French Collaborative Noonan Study Group. PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. J Med Genet. 2004 Nov;41( ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  6. Lennox-Gastaut syndrome 
    ... gov MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY PubMed Arzimanoglou A, French J, Blume WT, Cross JH, Ernst JP, Feucht ... Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  7. Niemann-Pick disease 
    ... The disease occurs more frequently in people of French-Acadian descent in Nova Scotia. In Nova Scotia, a population of affected French-Acadians were previously designated as having Niemann-Pick ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  8. VPS13A gene 
    ... families, although people with chorea-acanthocytosis who are French-Canadian or Japanese tend to have a mutation ... AP. Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics. 2005 Sep; ...
    https://medlineplus.gov/genetics/gene/vps13a - Genetics
  9. SLC12A6 gene 
    ... and sensory neuropathy). Almost all affected individuals of French-Canadian descent have the same variant in both ... Rouleau GA. Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. Neurology. 2007 Sep 25; ...
    https://medlineplus.gov/genetics/gene/slc12a6 - Genetics
  10. Microphthalmia 
    ... MICROPHTHALMIA, ISOLATED 4; MCOP4 PubMed Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera ... KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
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