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2,791 Possible Causes for Phenotypic Heterogeneity

  • Dentatorubral-Pallidoluysian Atrophy

    Given its rarity and prominent phenotypic heterogeneity, some care needs to be exercised in the interpretation and dissemination of test results derived from direct gene testing[] Each spinocerebellar ataxia manifests significant phenotypic heterogeneity, even within the same family.[] Goldfarb LG, Vasconcelos O, Platonov FA et al: Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol 1996; 39: 500-506.[]

  • Overeating

    Latent profile analysis was used to identify heterogeneity in overeating phenotypes in the child participants.[] This study identified three overeating phenotypes, supporting the heterogeneity of eating patterns associated with overweight and obesity in treatment-seeking children.[] These finding suggest that these phenotypes can potentially be used to identify high risk groups, inform prevention and intervention targets, and develop specific treatments[]

  • Common Cold

    […] clinical characteristics (i.e., incubation period, severity, respiratory compromise, and pro-asthmatic phenotypes) to responsible genomic regions will require additional[] The phylogenetic diversity we describe at the whole-genome level is consistent with the clinical heterogeneity of HRV infections in humans ( 1, 3, 4 ), although mapping specific[]

  • Bronchitis

    BACKGROUND: COPD is a heterogeneous disease composed by two main phenotypes: bronchitis (COPDb) and emphysema (COPDe) with different clinical presentation, physiology, imaging[]

  • Malignant Melanoma in Childhood

    As becomes clear, the phenotypic heterogeneity of MMC poses a major challenge when it comes to differentiating benign lesions from melanoma.[]

  • Generalized Epilepsy with Febrile Seizures Plus

    The phenotypic heterogeneity that is characteristic of GEFS families is likely to be due to modifier genes.[] […] epilepsy phenotypes.[] Abstract Generalized epilepsy with febrile seizures plus (GEFS( )) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures[]

  • Singleton Merten Syndrome

    (Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder.[] Cite Export Link to record Permanent link Direct link Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity Show[] In addition, we expand the Singleton-Merten phenotype by adding severe systemic lupus erythematosus (SLE) to the clinical picture.[]

  • Hypersensitivity

    These classes were distinguished by clinical validators that reinforce the association of CO 2 hypersensitivity and internalizing disorder phenotypes in children.[] CONCLUSION: As in older individuals, 3 distinct trajectories emerged to capture interindividual heterogeneity in children's distress during the CO 2 challenge task.[]

  • Insomnia

    Our hypothesis is that these differences in the expression of cardiovascular activity could be explained by the heterogeneity of the disorder.[] Therefore, the determination of insomnia phenotypes, and the study of cardiovascular measures, rather than heart rate variability alone, will give more insight into the link[] CONCLUSION: Autonomic regulation tends to be consistent between insomniacs, as long as they are grouped according to their respective phenotype, as shown in the insomnia subgroup[]

  • Hypertension

    Phenotypic heterogeneity of the endothelium: I. Structure, function, and mechanisms. Circ Res. 100, 158–173 (2007). 33. Galley, H. F. & Webster, N. R.[]

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