Results 221 to 230 of about 340,700 (262)
Some of the next articles are maybe not open access.
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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Respiratory Care, 2023
COPD is a heterogeneous condition, the onset and trajectory of which is influenced not only by tobacco exposure but also an individual's genetics and the exposures they accumulate over their life course. In such a complex chronic disease, phenotyping individuals based on similar clinical or molecular characteristics can aid in guiding appropriate ...
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COPD is a heterogeneous condition, the onset and trajectory of which is influenced not only by tobacco exposure but also an individual's genetics and the exposures they accumulate over their life course. In such a complex chronic disease, phenotyping individuals based on similar clinical or molecular characteristics can aid in guiding appropriate ...
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Electrophoresis, 1999
Within the framework of a pilot project on the analysis of the mouse proteome, we investigated C57BL/6 mice (Mus musculus), a standard inbred strain of the mouse, starting with the analysis of brain, liver and heart proteins. Tissue extraction and the separation of proteins were performed with techniques offering a maximum of resolution.
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Within the framework of a pilot project on the analysis of the mouse proteome, we investigated C57BL/6 mice (Mus musculus), a standard inbred strain of the mouse, starting with the analysis of brain, liver and heart proteins. Tissue extraction and the separation of proteins were performed with techniques offering a maximum of resolution.
openaire +2 more sources