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Results 1 - 10 of 61 for robert syndrome 22
  1. Branchio-oculo-facial syndrome 
    ... Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. Genotype-phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet A. 2011 Jan;155A(1):22-32. doi: 10.1002/ajmg.a.33783. Citation ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  2. Roberts syndrome 
    Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  3. Noonan syndrome 
    ... 7. doi: 10.1159/000243772. Epub 2009 Dec 22. Citation on PubMed Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  4. PRKAG2 gene 
    ... doi: 10.1074/jbc.M207093200. Epub 2002 Oct 22. Citation on PubMed ... for familial Wolff-Parkinson-White syndrome. N Engl J Med. 2001 Jun 14;344( ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  5. ESCO2 gene 
    ... ESCO2 gene mutations have been found to cause Roberts syndrome, which is characterized by limb and facial abnormalities ... around the chromosome's constriction point (centromere). In Roberts syndrome, cells respond to abnormal sister chromatid attachment by ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  6. FKBP14 gene 
    ... of the disorder. More About This Health Condition 22 kDa FK506-binding protein 22 kDa FKBP EDSKMH FK506 binding protein 14 FK506 binding protein 14, 22 kDa FKBP-22 FKBP22 FLJ20731 IPBP12 peptidyl-prolyl ...
    https://medlineplus.gov/genetics/gene/fkbp14 - Genetics
  7. COL1A1 gene 
    ... translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the COL1A1 gene on chromosome ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  8. Ehlers-Danlos syndrome 
    ... Hakim A. Hypermobile Ehlers-Danlos Syndrome. 2004 Oct 22 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ... Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey ... of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  9. SCN9A gene 
    ... j.tins.2007.08.004. Epub 2007 Oct 22. Citation on PubMed Dib-Hajj SD, Yang Y, ... doi: 10.1002/ana.22485. Epub 2011 Jun 22. Citation on PubMed Fertleman CR, Ferrie CD, Aicardi ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  10. AGPAT2 gene 
    ... 3. doi: 10.1038/ng880. Epub 2002 Apr 22. Citation on PubMed Agarwal AK. Lysophospholipid acyltransferases: 1- ... doi: 10.1074/jbc.M509612200. Epub 2006 Feb 22. Citation on PubMed Magre J, Delepine M, Van ...
    https://medlineplus.gov/genetics/gene/agpat2 - Genetics
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