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Genes associated with low serum high-density lipoprotein cholesterol.
Ahmadzadeh A, Azizi F. Ahmadzadeh A, et al. Arch Iran Med. 2014 Jun;17(6):444-50. Arch Iran Med. 2014. PMID: 24916532 Review.
Also Molecular variations in many genes such as ABCAI and APOAI, TRIB1 and Apo E, lipoprotein lipase (LPL), WW domain-containing oxidoreductase (WWOX), Hepatic lipase (HL), lecithin cholesteryl acyl transferase and some linkage analysis have been associated with reduced HDL-Statu …
Also Molecular variations in many genes such as ABCAI and APOAI, TRIB1 and Apo E, lipoprotein lipase (LPL), WW domain-containing oxidoreduct …
Mortality and pathological findings in C (Opitz trigonocephaly) syndrome.
Opitz JM, Putnam AR, Comstock JM, Chin S, Byrne JL, Kennedy A, Frikke MJ, Bernard C, Albrecht S, Der Kaloustian V, Szakacs JG. Opitz JM, et al. Fetal Pediatr Pathol. 2006 Jul-Aug;25(4):211-31. doi: 10.1080/15513810601015753. Fetal Pediatr Pathol. 2006. PMID: 17162528 Review.
Even as a rare multiple congenital anomalies/mental retardation syndrome, the C-syndrome (CS, or Opitz C-trigonoecephaly syndrome) is, at long last, beginning to attract attention because of its developmental and causal complexity. ...
Even as a rare multiple congenital anomalies/mental retardation syndrome, the C-syndrome (CS, or Opitz C-trigonoecephaly syndr …
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.
Schaap C, Schrander-Stumpel CT, Fryns JP. Schaap C, et al. Genet Couns. 1992;3(4):209-15. Genet Couns. 1992. PMID: 1472356 Review.
The second patient had initially a delayed motor development, but finally attained normal intelligence. A review of 22 patients with Opitz-C syndrome from the literature is presented. Most of the typical facial dysmorphism can be regarded as part of a trigonocephaly …
The second patient had initially a delayed motor development, but finally attained normal intelligence. A review of 22 patients with Opitz- …
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Urreizti R, et al. Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7. Am J Med Genet A. 2016. PMID: 26768331
Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring-Opitz syndrome (BOS or C-like syndrome) are two rare genetic disorders with phenotypic overlap. ...
Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring-Opitz syndrome (BOS or C-like syndrome) are two rare genetic di …
Trigonocephaly and the Opitz C syndrome.
Sargent C, Burn J, Baraitser M, Pembrey ME. Sargent C, et al. J Med Genet. 1985 Feb;22(1):39-45. doi: 10.1136/jmg.22.1.39. J Med Genet. 1985. PMID: 3981579 Free PMC article.
On the basis of this experience we examine the diagnostic criteria for the presumed autosomal recessive trigonocephaly C syndrome....
On the basis of this experience we examine the diagnostic criteria for the presumed autosomal recessive trigonocephaly C syndrome …
Managing occupational risks for hepatitis C transmission in the health care setting.
Henderson DK. Henderson DK. Clin Microbiol Rev. 2003 Jul;16(3):546-68. doi: 10.1128/CMR.16.3.546-568.2003. Clin Microbiol Rev. 2003. PMID: 12857782 Free PMC article. Review.
Recently published data demonstrate success rates in the treatment of "acute hepatitis C syndrome" that approach 100\%, and although these studies are not directly applicable to all occupational infections, they may provide important clues to optimal management stra …
Recently published data demonstrate success rates in the treatment of "acute hepatitis C syndrome" that approach 100\%, and al …
A 3H-labelled trisaccharide from heparin as substrate for acetyl-CoA: 2-amino-2-deoxy-alpha-D-glucoside N-acetyltransferase.
Klein U, von Figura K. Klein U, et al. Carbohydr Res. 1980 Jan 15;78(2):249-56. doi: 10.1016/0008-6215(80)90005-1. Carbohydr Res. 1980. PMID: 6766355
By sequential, enzymic degradation, the structure alpha-D-GlcN-(1 leads to 4)-beta-D-GlcA-(1 leads to 4)-[1-3H]aManol was obtained for 1, which is a substrate for acetyl-CoA: 2-amino-2-deoxy-alpha-D-glucoside N-acetyltransferase, an enzyme that is deficient in the Sanfilippo C …
By sequential, enzymic degradation, the structure alpha-D-GlcN-(1 leads to 4)-beta-D-GlcA-(1 leads to 4)-[1-3H]aManol was obtained for 1, wh …
11 results