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Results 1 - 10 of 615 for C syndrome
  1. HGSNAT gene 
    ... AV. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet. 2006 Nov;79(5): ... FA. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The ... BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis. 2008 ...
    https://medlineplus.gov/genetics/gene/hgsnat - Genetics
  2. MN1 gene 
    ... mutations are reflected in the condition name, MN1 C-terminal truncation syndrome.One mutation that has been found in multiple ... TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with ...
    https://medlineplus.gov/genetics/gene/mn1 - Genetics
  3. SPART gene 
    ... JC, Jupille H, Fatheddin P, Puertollano R, Blackstone C. Troyer syndrome protein spartin is mono-ubiquitinated and functions in ... Citation on PubMed Patel H, Cross H, Proukakis C, Hershberger R, Bork ... in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug; ...
    https://medlineplus.gov/genetics/gene/spart - Genetics
  4. VPS13B gene 
    ... Solary E, Faivre L, Foulquier F, Thauvin-Robinet C. Cohen syndrome is associated with major glycosylation defects. Hum Mol ... on PubMed Central Wang H, Falk MJ, Wensel C, Traboulsi EI. Cohen Syndrome. 2006 Aug 29 [updated 2016 Jul 21]. In: ...
    https://medlineplus.gov/genetics/gene/vps13b - Genetics
  5. WFS1 gene 
    ... PubMed Central Rigoli L, Lombardo F, Di Bella C. Wolfram syndrome and WFS1 gene. Clin Genet. 2011 Feb;79( ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  6. SDHD gene 
    ... HH, Trent J, Perrier ND, Goodarzi M, Jimenez C. Paraganglioma syndrome type 1 in a patient with Carney-Stratakis ... J, Mester J, Orloff MS, Ringel MD, Eng C. Germline SDHx variants modify breast ... Cowden-like syndrome via FAD/NAD-dependant destabilization of p53. Hum ...
    https://medlineplus.gov/genetics/gene/sdhd - Genetics
  7. FBN1 gene 
    ... 6. Citation on PubMed Collod-Beroud G, Boileau C. Marfan syndrome in the third Millennium. Eur J Hum Genet. ... Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Pathogenic FBN1 mutations ... syndrome: further delineation of type 1 fibrillinopathies and focus ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  8. HPS1 gene 
    ... isoform a Hermansky-Pudlak syndrome 1 protein isoform c Hermansky-Pudlak syndrome type 1 HPS HPS1_HUMAN MGC5277 Tests of HPS1 PubMed HPS1 BIOGENESIS OF LYSOSOMAL ORGANELLES COMPLEX 3, SUBUNIT 1; HPS1 NCBI Gene ClinVar Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL. ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  9. PTEN gene 
    ... May 23. Citation on PubMed Yehia L, Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [updated 2021 Feb 11]. In: ... books/NBK1488/ Citation on PubMed Yehia L, Eng C. PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  10. PROKR2 gene 
    ... Free article on PubMed Central Sarfati J, Dode C, Young J. Kallmann syndrome caused by mutations in the PROK2 and PROKR2 ...
    https://medlineplus.gov/genetics/gene/prokr2 - Genetics
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