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577 Possible Causes for Highly Variable Expression

  • Osteopathia Striata

    Savarirayan R et al. (1997) Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. [ ] 8.[] Winter RM et al. (1980) Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases. [ ] 19.[]

  • Osteoporosis

    This variety of pathogenic variants results in highly variable clinical expression and in a great number of compound heterozygous genotypes. Table 4.[]

  • Alagille Syndrome

    Alagille syndrome (AGS; Online Mendelian Inheritance in Man no. 118450) is a multisystem autosomal dominant disorder with highly variable expression characterized by chronic[] Subjects with NOTCH2 mutations demonstrated highly variable expressivity of the affected systems, as with JAG1 individuals.[]

  • Adenocarcinoma of the Prostate

    Sixty-four of 557 (11.5%) cases showed highly variable expression of HepPar-1 in 1% to 75% of tumor cells with a characteristically strong granular "mitochondrial" pattern[] We screened 557 prostate carcinoma cases for expression of these 2 markers using tissue microarrays.[]

  • Pseudomonas Aeruginosa

    Figure 3 RpoN protein in P. aeruginosa isolates is highly variable.[] Immunoblot (bottom) and analysis (top) of RpoN expression in P. aeruginosa CF patient isolates and laboratory strains PAO1-S and Δ rpoN.[]

  • Ichthyosis Vulgaris

    […] is highly variable, so family history may not be positive.[] […] autosomal dominant (AD) trait with incomplete penetrance, caused by a deficiency of hydroxymethylbilane synthetase or porphobilinogen (PBG) deaminase enzyme. [1] Clinical expression[]

  • Colitis

    The α 4 β 7 integrin, 8 a cell-surface glycoprotein variably expressed on circulating B and T lymphocytes, interacts with mucosal addressin-cell adhesion molecule 1 9 (MAdCAM[] The migration of leukocytes into inflamed intestinal tissue is highly regulated by specific molecular mechanisms.[]

  • Sepsis

    Several groups have evaluated whether cytokine or gene expression arrays can accurately diagnose sepsis; however, because of the highly variable nature of host response and[]

  • Hemochromatosis

    […] is highly variable with only a minority of patients developing systemic complications of iron overload.[] Although this relationship is not linear and clinical expression in individual patients is highly variable, organ damage is generally observed with 20 g of parenchymal iron[] Homozygosity for the C282Y mutation accounts for 80–90% of cases of HFE-haemochromatosis and compound heterozygosity (C282Y/H63D) is the next most common genotype. 1 Phenotypic expression[]

  • Arteriosclerosis

    Three highly related but distinct gene products, JNK1, JNK2, and JNK3, can be expressed as a total of 10 isoforms as a result of variable mRNA splicing ( 259 ).[]

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