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Results 1 - 10 of 32 for Cross syndrome
  1. Blau syndrome 
    ... JI, Foley KP, Bertin J, Wouters CH. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015 Jun;54(6):1008-16. ... the prototypic auto-inflammatory granulomatous disease. Pediatr Rheumatol ...
    https://medlineplus.gov/genetics/condition/blau-syndrome - Genetics
  2. Lennox-Gastaut syndrome 
    ... 2000.tb00179.x. Citation on PubMed Hancock EC, Cross HH. Treatment of Lennox-Gastaut syndrome. Cochrane Database Syst Rev. 2009 Jul 8;(3): ... 14651858.CD003277.pub2. Citation on PubMed Hancock EC, Cross JH. Treatment of Lennox-Gastaut syndrome. Cochrane Database Syst Rev. 2013 Feb 28;2013( ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  3. Freeman-Sheldon syndrome 
    ... 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 ... of myosin-based Freeman-Sheldon syndrome. Mol Biol Cell. 2019 Jan 1;30(1): ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  4. Smith-Lemli-Opitz syndrome 
    ... Rare Disorders (NORD) ClinicalTrials.gov SMITH-LEMLI-OPITZ SYNDROME; SLOS PubMed Bianconi SE, Cross JL, Wassif CA, Porter FD. Pathogenesis, Epidemiology, Diagnosis ...
    https://medlineplus.gov/.../condition/smith-lemli-opitz-syndrome - Genetics
  5. Troyer syndrome 
    ... 2002 Jul 22. Citation on PubMed Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Troyer syndrome revisited. A clinical and radiological study of a ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  6. Joubert syndrome 
    ... name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI.Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, which ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  7. Kuskokwim syndrome 
    ... to collagens and plays a role in their cross-linking.A mutation in the FKBP10 gene alters the FKBP10 protein, making it unstable and easily broken down. As a result, people with Kuskokwim syndrome have only about 5 percent of the normal ...
    https://medlineplus.gov/genetics/condition/kuskokwim-syndrome - Genetics
  8. PDGFRA-associated chronic eosinophilic leukemia 
    ... 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/...-associated-chronic-eosinophilic-leukemia - Genetics
  9. Epilepsy-aphasia spectrum 
    ... Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshe SL, Tinuper P, Auvin S. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  10. GM3 synthase deficiency 
    ... or Free article on PubMed Central Simpson MA, Cross H, ... symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation ...
    https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency - Genetics
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