Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 36 for Cross syndrome
  1. TNXB gene 
    ... the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4. Citation on PubMed ... of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
  2. FGFR1 gene 
    ... 22. Citation on PubMed Macdonald D, Reiter A, Cross NC. The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  3. MYH3 gene 
    ... embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. Hum Mol Genet. 2015 Jun 15;24(12):3348-58. doi: 10.1093/hmg/ddv084. Epub 2015 Mar 3. ... RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4: ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  4. FKBP10 gene 
    ... people with osteogenesis imperfecta type XI and Bruck syndrome 1. As a result, collagen cross-linking is severely impaired: there are very few collagen fibrils in the extracellular matrix, and the network is sparse and ... type XI and Bruck syndrome 1 is unclear. In addition, it is unknown ...
    https://medlineplus.gov/genetics/gene/fkbp10 - Genetics
  5. ERCC8 gene 
    ... syndrome 1 (classical) Cockayne syndrome 1 protein Cockayne syndrome, type A CSA ERCC8_HUMAN excision repair cross-complementation group 8 excision repair cross-complementing rodent ...
    https://medlineplus.gov/genetics/gene/ercc8 - Genetics
  6. DHCR7 gene 
    ... DEHYDROCHOLESTEROL REDUCTASE; DHCR7 NCBI Gene ClinVar Bianconi SE, Cross JL, Wassif CA, Porter FD. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. Expert Opin Orphan Drugs. 2015 Mar;3(3): ...
    https://medlineplus.gov/genetics/gene/dhcr7 - Genetics
  7. PLOD1 gene 
    ... greatly reduces the amount of hydroxylysine, which impairs cross-linking between collagen ... collagen lysyl hydroxylase ...
    https://medlineplus.gov/genetics/gene/plod1 - Genetics
  8. PIK3R2 gene 
    ... article on PubMed Central Tapper WJ, Foulds N, Cross NC, Aranaz P, Score J, Hidalgo-Curtis C, Robinson DO, Gibson J, Ennis S, Temple IK, Collins A. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic ...
    https://medlineplus.gov/genetics/gene/pik3r2 - Genetics
  9. PDGFRA gene 
    ... Frickenhaus M, Schemionek M, Stehling M, Serve H, Cross NC, Hochhaus A, Hofmann WK, Berdel WE, Muller-Tidow C, Reiter A, Koschmieder S. Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease. ...
    https://medlineplus.gov/genetics/gene/pdgfra - Genetics
  10. TGM3 gene 
    ... forms stabilizing cross-links between proteins. These protein cross-links provide strength and structure to cells, particularly skin and hair cells. At least one mutation in the TGM3 gene has been found to cause uncombable hair syndrome. This condition is characterized by dry, frizzy, blond ...
    https://medlineplus.gov/genetics/gene/tgm3 - Genetics
previous · 1 · 2 · 3 · 4 · next