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Träfflista för sökning "L773:0028 4793 OR L773:1533 4406 ;lar1:(uu);hsvcat:1"

Search: L773:0028 4793 OR L773:1533 4406 > Uppsala University > Natural sciences

  • Result 1-5 of 5
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1.
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2.
  • van Kuilenburg, Andre B. P., et al. (author)
  • Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
  • 2019
  • In: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 380:15, s. 1433-1441
  • Journal article (peer-reviewed)abstract
    • We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified through detailed clinical and biochemical phenotyping, combined with whole-genome sequencing. The expansion was observed in three unrelated patients who presented with an early-onset delay in overall development, progressive ataxia, and elevated levels of glutamine. In addition to ataxia, one patient also showed cerebellar atrophy. The expansion was associated with a relative deficiency of GLS messenger RNA transcribed from the expanded allele, which probably resulted from repeat-mediated chromatin changes upstream of the GLS repeat. Our discovery underscores the importance of careful examination of regions of the genome that are typically excluded from or poorly captured by exome sequencing.
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3.
  • Cnattingius, S, et al. (author)
  • Prepregnancy weight and the risk of adverse pregnancy outcomes
  • 1998
  • In: NEW ENGLAND JOURNAL OF MEDICINE. - : MASS MEDICAL SOC. - 0028-4793. ; 338:3, s. 147-152
  • Journal article (peer-reviewed)abstract
    • Background Obesity before pregnancy is associated with an increased risk of several adverse outcomes of pregnancy. The risk profiles among lean, normal, or mildly overweight women are not, however, well established. Methods We studied the associations bet
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4.
  • Hansson, LE, et al. (author)
  • The risk of stomach cancer in patients with gastric or duodenal ulcer disease
  • 1996
  • In: NEW ENGLAND JOURNAL OF MEDICINE. - : MASS MEDICAL SOC. - 0028-4793. ; 335:4, s. 242-249
  • Journal article (peer-reviewed)abstract
    • Background Helicobacter pylori infection, now considered to be a cause of gastric cancer, is also strongly associated with gastric and duodenal ulcer disease. The discovery of these relations has brought the long-controversial connection between peptic ul
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5.
  • Lagergren, J, et al. (author)
  • Symptomatic gastroesophageal reflux as a risk factor for esophageal adenocarcinoma
  • 1999
  • In: NEW ENGLAND JOURNAL OF MEDICINE. - : MASS MEDICAL SOC. - 0028-4793. ; 340:11, s. 825-831
  • Journal article (peer-reviewed)abstract
    • Background The causes of adenocarcinomas of the esophagus and gastric cardia are poorly understood. We conducted an epidemiologic investigation of the possible association between gastroesophageal reflux and these tumors. Methods We performed a nationwide
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  • Result 1-5 of 5

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