Results 261 to 270 of about 194,178 (304)
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Annals of Otology, Rhinology & Laryngology, 2001
We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3–23.2). Cross-sectional analysis of air conduction threshold—on—age data from all available last-visit audiograms (linear regression analysis, age over
Leenheer, E. de +4 more
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We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3–23.2). Cross-sectional analysis of air conduction threshold—on—age data from all available last-visit audiograms (linear regression analysis, age over
Leenheer, E. de +4 more
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Genetically altered mice: phenotypes, no phenotypes, and Faux phenotypes
Genetica, 2004'Phenotype' means different things, but whatever the measure, phenotype can be profoundly influenced by genetic, environmental and infectious variables. The laboratory mouse is a complex multisystemic organism which, despite its genetically inbred nature, as highly variable pathophysiologic characteristics. Mouse strains have background characteristics
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2008
Definition of the phenotype is crucial in designing any genetic study, especially an association study, intended to detect the disease predisposing genes. In this chapter, we review the different types of phenotypes such as discrete or continuous and discuss the issues impacting on the phenotype definition related to study design, specifically, the ...
Mary K, Wojczynski, Hemant K, Tiwari
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Definition of the phenotype is crucial in designing any genetic study, especially an association study, intended to detect the disease predisposing genes. In this chapter, we review the different types of phenotypes such as discrete or continuous and discuss the issues impacting on the phenotype definition related to study design, specifically, the ...
Mary K, Wojczynski, Hemant K, Tiwari
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2020
Clinical presentation of Klinefelter’s syndrome is highly heterogeneous, explaining why the disease is often undiagnosed. Klinefelter patients have traditionally been described as tall, with gynecomastia, small and firm testicles. Beyond this classical phenotype, less distinct phenotypes have been described with less evident features.
De Vincentis S., Rochira V.
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Clinical presentation of Klinefelter’s syndrome is highly heterogeneous, explaining why the disease is often undiagnosed. Klinefelter patients have traditionally been described as tall, with gynecomastia, small and firm testicles. Beyond this classical phenotype, less distinct phenotypes have been described with less evident features.
De Vincentis S., Rochira V.
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Neurology, 1996
To the Editor: The editorial by Rosenberg [1] is a superb analysis of the current genotype situation in the field of the hereditary ataxias. Rosenberg is quite right in his comments that the genotype has great importance in clarifying the issue of correlation …
R D, Currier, S H, Subramony
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To the Editor: The editorial by Rosenberg [1] is a superb analysis of the current genotype situation in the field of the hereditary ataxias. Rosenberg is quite right in his comments that the genotype has great importance in clarifying the issue of correlation …
R D, Currier, S H, Subramony
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The Journal of Allergy and Clinical Immunology: In Practice, 2020
Rhinitis is an umbrella term of a group of upper airway diseases with nasal symptoms and signs with different etiologies and various clinical features or traits. It can be classified into different "phenotypes," based on these observable traits. A proper differential diagnosis is necessary to adequately manage the disease.
Joaquim, Mullol +2 more
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Rhinitis is an umbrella term of a group of upper airway diseases with nasal symptoms and signs with different etiologies and various clinical features or traits. It can be classified into different "phenotypes," based on these observable traits. A proper differential diagnosis is necessary to adequately manage the disease.
Joaquim, Mullol +2 more
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Methods, 2011
Model organisms like the mouse are important tools to learn more about gene function in man. Within the last 20 years many mutant mouse lines have been generated by different methods such as ENU mutagenesis, constitutive and conditional knock-out approaches, knock-down, introduction of human genes, and knock-in techniques, thus creating models which ...
Helmut, Fuchs +49 more
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Model organisms like the mouse are important tools to learn more about gene function in man. Within the last 20 years many mutant mouse lines have been generated by different methods such as ENU mutagenesis, constitutive and conditional knock-out approaches, knock-down, introduction of human genes, and knock-in techniques, thus creating models which ...
Helmut, Fuchs +49 more
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Journal of Mathematical Biology, 2009
The topological viewpoint on spaces of phenotypes presented in Stadler et al. (J Theor Biol 213:241-274, 2001) is revisited, and a quantified version is proposed. While necessary probabilistic information can be encoded in a topological- like fashion, it turns out that it is not reflected adequately by the concept of continuity.
Mynard, Frédéric D. +1 more
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The topological viewpoint on spaces of phenotypes presented in Stadler et al. (J Theor Biol 213:241-274, 2001) is revisited, and a quantified version is proposed. While necessary probabilistic information can be encoded in a topological- like fashion, it turns out that it is not reflected adequately by the concept of continuity.
Mynard, Frédéric D. +1 more
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Nature Biotechnology, 2015
In the coming years, patient phenotypes captured to enhance health and wellness will extend to human interactions with digital technology.
Sachin H, Jain +3 more
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In the coming years, patient phenotypes captured to enhance health and wellness will extend to human interactions with digital technology.
Sachin H, Jain +3 more
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Current Opinion in Pulmonary Medicine, 2019
Bronchiectasis is a chronic respiratory disease with heterogeneous clinical manifestations and outcomes. Identifying clinical phenotypes could help in managing bronchiectasis patients and hopefully improve disease prognosis by adopting personalized treatment. We review the current literature on clinical phenotypes of bronchiectasis and try to highlight
Patricia, Chang-Macchiu +2 more
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Bronchiectasis is a chronic respiratory disease with heterogeneous clinical manifestations and outcomes. Identifying clinical phenotypes could help in managing bronchiectasis patients and hopefully improve disease prognosis by adopting personalized treatment. We review the current literature on clinical phenotypes of bronchiectasis and try to highlight
Patricia, Chang-Macchiu +2 more
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