Individuals phenotype. Medical search. Frequent questions

The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. (nih.gov)
For detecting genotype-phenotype association from case-control single nucleotide polymorphism (SNP) data, one class of methods relies on testing each genomic variant site individually. (biomedcentral.com)
In the case of genotype-phenotype association study specifically, this means looking for differences between the two groups in the frequencies of alleles. (biomedcentral.com)
Genotype, at its broadest sense, is the genetic characteristics of an individual. (futurelearn.com)
Platelets were isolated for phenotype analysis, and DNA was isolated from lymphocytes for genotype determination. (aacrjournals.org)
NAT2 phenotype results were consistent with NAT2 genotype data. (cdc.gov)
Participants responded to survey items and provided blood samples for evaluation of phenotype and genotype of CYP2A6 and CYP2B6 enzymes involved in nicotine and bupropion metabolism. (who.int)
CONCLUSION: KIS-III is the first study designed to examine both nicotine and bupropion metabolism, evaluating CYP2A6 and CYP2B6 phenotype and genotype in conjunction with psychosocial factors, in the context of treatment of African American light smokers. (who.int)

From ∼ 1000 individuals of a founder population in Quebec, we reveal a substantial impact of the environment on the transcriptome and clinical endophenotypes, overpowering that of genetic ancestry. (nature.com)
Obese patients (BMI ≥ 30) scheduled for BS undergoing standard of care screening EGD, or lean BS-naïve individuals (BMI ≤ 25) subjected to EGD for routine clinical indications as part of standard care. (mayo.edu)
In a nosological sense, the term phenotype can be used in clinical medicine for speaking about the presentation of a disease. (wikipedia.org)
A clinical phenotype would be the presentation of a disease in a given individual. (wikipedia.org)
This report describes the clinical characteristics of a group of 59 individuals with the PI* SZ phenotype and α 1 -antitrypsin (α 1 -AT) deficiency, identified during recruitment of a registry for subjects with severe α 1 -antitrypsin deficiency. (elsevierpure.com)
The skin clinical phenotypes of nonsteroidal anti-inflammatory drug (NSAID) hypersensitivity (NH) are very heterogeneous with several syndromes after NSAID intake, which include different symptoms, different organ involvement and different associated concomitant diseases and possibly different underlying pathophysiology and mechanisms. (intechopen.com)
Treatment modalities are depending on the clinical phenotypes of NH and they will embrace for each patient: the avoidance of culprit NSAID, the finding of well-tolerated NSAID and in certain cases, desensitization procedures when the NSAID treatment was absolutely needed as well as the control of associated diseases such as spontaneous chronic urticarial or allergic respiratory diseases. (intechopen.com)
To describe the phenotype and clinical course in three family members with MEN 2A syndrome. (eurospe.org)
In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome, as well as a review of all previously published individuals. (ox.ac.uk)
The presented data will inform clinical management of individuals with ASXL3-related syndrome and improve interpretation of new ASXL3 sequence variants. (ox.ac.uk)
Before you have that diagnosis, are there any clinical features that can maybe steer you in those directions and predict what type of FSGS the individual has? (medscape.com)
These biobanks often include tissue samples from individuals of many ethnic backgrounds and provide access to a wide range of demographic, clinical, and lifestyle data. (eurekalert.org)
2 A diagnosis of atypical RTT is given to individuals who exhibit several features of RTT, but do not exhibit all the essential clinical criteria of typical RTT. (bmj.com)
Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)

For example, the term 'phenotype' in the field of chronic obstructive pulmonary disease (COPD) means "a single or combination of disease attributes that describe differences between individuals with COPD as they relate to clinically meaningful outcomes", but nearly all specialities use this meaning in some way, like in asthma research. (wikipedia.org)

Here we collected the blood samples from 18 healthy donors (HD) and 38 COVID-19 patients to analyze changes in the adaptive immune cell populations and phenotypes. (medrxiv.org)

A single RHD G667 C697 allele was present in 5 individuals with D Va category phenotype, and in 2 individuals we found a D-CE-D hybrid gene (exon 5 had been replaced). (karger.com)
Correspondingly, the minor allele of each variate site will be classified as having negative influence, no influence or positive influence on the phenotype. (biomedcentral.com)
If the two alleles are the same, the individual is homozygous for that allele. (genome.gov)
A dominant allele always results in the dominant phenotype. (writersdomain.org)
95% confidence interval (CI), 1.05-2.68] compared with individuals homozygous for the low-activity allele. (aacrjournals.org)
Individuals carrying NAT1*10, a low activity allele, showed a higher risk of bladder cancer (OR=2.3, 95% CI 0.8-7.0). (cdc.gov)

The genetic background of the D Va category phenotype has been described in two Caucasian individuals. (karger.com)
Our findings demonstrate how the local environment directly affects disease risk phenotypes and that genetic variation, including less common variants, can modulate individual's response to environmental challenges. (nature.com)
After attributing a regional and/or continental ancestry to each individual using genome-wide polymorphism data, we are able to capture the effect of different environmental exposures on gene expression and health-related traits, while simultaneously controlling for genetic relatedness and migration. (nature.com)
Details can be found in our paper Efficient Phenotype Evaluation in Cartesian Genetic Programming presented at EuroGP 2012. (vutbr.cz)
Overall, we provide genetic insights into MPB: a phenotype of interest in its own right, with value as a model sex-limited, complex trait. (nature.com)
Behavioural phenotypes are syndromes with a chromosomal or genetic aetiology, comprising both physiological and behaviour manifestations, including a distinctive social, linguistic, cognitive and motor profile. (herts.ac.uk)
Affected individuals with this genetic change are said to have translocation Down syndrome. (medlineplus.gov)
Increasingly, logistic regression methods for genetic association studies of binary phenotypes must be able to accommodate data sparsity, which arises from unbalanced case-control ratios and/or rare genetic variants. (karger.com)

Compound Heterozygous is where an individual has two different recessive alleles at a specific gene locus, one on each identical chromosome. (futurelearn.com)
If the alleles are different, the individual is heterozygous. (genome.gov)
In dominant-recessive inheritance, if an individual is heterozygous, which phenotype will be expressed? (pearson.com)

The set of observable characteristics or traits of an individual. (futurelearn.com)
Over time, the proportion of individuals with advantageous characteristics may increase due to their likelihood of surviving and reproducing. (berkeley.edu)
Reproducible quantifiable imaging features of GBM heterogeneity that explicitly examine links between the imaging findings and the underlying GBM phenotypes characteristics are identified. (hindawi.com)
Patients with and without SIBO were comparable according to demographics, systemic inflammatory biomarkers, and disease characteristics, except to the stricturing phenotype more common in the SIBO-positive CD patients (48.5% vs 19.5%, P =0.001). (scielo.br)

In this paper, we will focus on a dichotomous phenotype Y and aim to detect variants which affect Y based on case-control SNP data. (biomedcentral.com)
A classic model is logistic regression, where the log-odds of a subject having a phenotype is assumed to be linear in each of the variants. (biomedcentral.com)
Sets of 10-100s of genes used to identify variants in the human genome linking to specific phenotypes or conditions. (futurelearn.com)
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. (ox.ac.uk)
We report familial ASXL3 pathogenic variants, characterize the phenotype in mildly affected individuals and discuss nonpenetrance. (ox.ac.uk)
Studies of 910 individuals of African descent showed that at least 300 million DNA variants (10%) are not represented in the human reference genome. (cdc.gov)
As a result of thousands of genome-wide association studies (GWAS), we know now that common sequence variants contribute to complex human health phenotypes (e.g., blood pressure and lipid levels), and common diseases (e.g. cancer and heart disease). (cdc.gov)

Introduced quantitative histogram features can discriminate phenotype heterogeneity from MRI images and thereby strengthen personalized medicine in GBM [ 12 ]. (hindawi.com)

This study aimed to profile serum metabolic alterations of different vascular endothelial function phenotypes in asymptomatic adults at extreme cardiovascular risk. (rsc.org)
Eighteen isofemale strains were used in our tests and, after the first generation, all the individuals produced in each strain were maintained at 29°C. Different phenotype alterations were observed in subsequent generations, similar to mutations already well characterized in D. melanogaster (white, sepia, blistered and curly). (scielo.br)

More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. (bmj.com)

In dominant-recessive inheritance, if an individual is heterozygo. (pearson.com)

We identified 77 different COL2A1 mutations in 100 affected individuals. (nih.gov)
The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)
Surprisingly, although the disorder is caused by mutations in a single gene, disease severity in affected individuals can be quite variable. (bmj.com)
it kind of comes out of nowhere, perhaps from an immunocompromised individual, and shows up with 30 mutations in the spike protein," Bedford said. (bostonglobe.com)

In this context, a phenotype would be any observable characteristic or trait of a disease, such as morphology, development, biochemical or physiological properties, or behavior, without any implication of a mechanism. (wikipedia.org)

The prognostic and treatment predictive markers currently in use for breast cancer are commonly based on the protein levels of individual genes (e.g. steroid receptors), or aspects of the tumor phenotype such as histological grade and percent of cells in the DNA synthesis phase of the cell cycle. (lu.se)

Drawing from this founding population of individuals with largely French ancestry, we selected 1007 individuals to determine mechanisms by which genomes, the environment, and their interactions contribute to phenotypic variation. (nature.com)
We explored the hypothesis that the "individual phenotypic dimensions" may partially explain the degree of such resorptions. (bvsalud.org)
Within the limitations of this study, the results indicate that the dimensions of a lateral bone augmentation are defined by the "individual phenotypic bone boundaries" of the patient . (bvsalud.org)

Thus, our results and other published data led us to the current hypothesis: an intestinal glucose hyper-absorptive phenotype in obese patients may be a predictor for successful outcome of BS. (mayo.edu)
Glucocorticoid (GC) production rates are elevated in obese, insulin resistant individuals. (endocrine-abstracts.org)

That's largely what's given them their advantageous phenotype. (bostonglobe.com)

With SSP-PCR we tested exons 4, 5 and 7 of the RHD gene and used restriction enzymes for testing nucelotide associated with the D Va phenotype. (karger.com)

Maladapted vascular endothelial metabolism in the context of endothelial function differing in phenotype remains unknown, which limits our understanding of the heterogeneous pathogenesis of atherosclerotic cardiovascular disease (CVD). (rsc.org)
In conclusion, in the forearm exercise model studied, vasodilatory response phenotypes exist that determine individual susceptibility to hypoperfusion and the degree to which aerobic metabolism and exercise performance are compromised. (mcmaster.ca)

On individual plants, typically only a subset of interactions is realized. (biorxiv.org)
In this paper, feature selection based on decision tree is examined to determine the relevant subset of glioblastoma (GBM) phenotypes in the statistical domain. (hindawi.com)
Then, we implemented the decision tree to define the optimal subset features of phenotype classifier. (hindawi.com)

The changes of the RHD gene described in European D Va individuals were also observed in Japanese families. (karger.com)

For example, some individuals may have had symptoms of schizophrenia but had not yet been diagnosed with the condition, which may have affected the results. (medicalnewstoday.com)
Individuals with the SZ phenotype reported respiratory symptoms less frequently than did ZZ subjects. (elsevierpure.com)
However, this presents a paradox, as symptoms of a psychiatric disorder may be overshadowed by the behaviour and intellectual disability of affected individuals. (herts.ac.uk)

In addition to 12 CVD patients, 103 individuals free of CVD were categorized as having normal endothelial function (NEF) ( n = 30), cardiovascular risk-promoting endothelial function (PEF) ( n = 18), cardiovascular risk-resistant endothelial function (REF) ( n = 25), and vulnerable endothelial function (VEF) ( n = 30). (rsc.org)
The primary objective of this study was to determine whether cardiovascular compensatory response phenotypes exist in the face of a reduced perfusion pressure challenge to exercising muscle oxygen delivery (O 2 D), and whether these responses might be exercise intensity (EI) dependent. (mcmaster.ca)

As a consequence of racial intermixture during the colonial era, phenotype in the contemporary Mexican-origin population ranges on a continuum from those who appear white to those who have dark skin, indigenous facial features, and shorter height than average. (encyclopedia.com)
In syndromes in which there are differences in physical appearance, such as short stature/accelerated growth, facial dysmorphism or delayed sexual development, affected individuals can suffer from low self-esteem and this can often precipitate secondary behavioural difficulties. (herts.ac.uk)
Goal: the goal of the paper is to inform orthodontic professionals about the challenges to diagnose and to treat patients presenting hyperdivergent facial phenotype. (bvsalud.org)
Results: although the prevalence of individuals presenting hyperdivergent facial phenotype in the USA population (since no Brazilian epidemiologic is available) is considerably low, diagnosis and treatment are challenging. (bvsalud.org)
Conclusion: settling of the hyperdivergent facial phenotype is complex and multifactorial. (bvsalud.org)

A principled method is needed to automatically detect genomic variant blocks which are associated with the phenotype. (biomedcentral.com)
An individual inherits two alleles, one from each parent, for any given genomic location where such variation exists. (genome.gov)

We delineate a variable but consistent phenotype. (ox.ac.uk)

Furthermore, these individuals present respiratory and masticatory functions deficiences. (bvsalud.org)

These observations indicate that in smokers, the PI*SZ phenotype confers a significant risk of the development of chronic obstructive pulmonary disease (COPD). (elsevierpure.com)
Of itself, except in rare instances in nonsmoking individuals, the PI*SZ phenotype may confer little or no added risk of developing COPD. (elsevierpure.com)

Prostate cancer patients ( n = 464) and control individuals ( n = 459), frequency matched on age and ethnicity, provided informed consent, answered a survey, and provided a blood sample. (aacrjournals.org)

Individual 'alveolar phenotype' limits dimensions of lateral bone augmentation. (bvsalud.org)

However, given these findings and the fact that OCD and schizophrenia co-occur with one another at a higher rate than would be expected in the general population, the phenotypes of these disorders are potentially more similar than currently acknowledged. (medicalnewstoday.com)

RESULTS: Anti-Rh29 was identified in all four individuals. (lu.se)

Owing to the range of intellectual disability exhibited across behavioural phenotypes, it is important to assess cognitive functioning at an early stage, particularly when the level of intellectual disability may be borderline, as in the case of Sotos and Turner syndromes, so that educational intervention can be tailored to meet the individual's needs and maximize the individual's potential (Barnard et al. (herts.ac.uk)
All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. (medlineplus.gov)

Applying varying criteria resulted in hypertension prevalence es- electronic phenotype development process and proposes an optimal defin- ition for EHR-based hypertension. (cdc.gov)
SEPTEMBER 2023 posed electronic phenotype generates hypertension prevalence es- tension prevalence and control. (cdc.gov)

Individuals with Down syndrome have an increased risk of developing several medical conditions. (medlineplus.gov)
Individuals with Down syndrome also have an increased risk of hearing and vision problems. (medlineplus.gov)
Affected individuals can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. (medlineplus.gov)
Additionally, speech may be difficult to understand in individuals with Down syndrome. (medlineplus.gov)
We report of three individuals diagnosed with MEN 2A syndrome. (eurospe.org)
Several cases of chromosome 10p deletion have also been reported in which affected individuals have some features of DiGeorge syndrome. (medscape.com)

Thus, the most convincing evidence to date is that phenotype continues to matter for African Americans. (encyclopedia.com)

This longitudinal study aimed to evaluate the significance of fulfilling at least one criterion of the frailty phenotype in the late sixties as a predictor of short- and long-term mortality in males and females. (smw.ch)
A typical approach uses the case-control study, which samples subjects with both phenotypes and looks for differences in the target variables between the two groups. (biomedcentral.com)
This study demonstrated the ability of statistical features to provide a quantitative, individualized measurement of glioblastoma patient and assess the phenotype progression. (hindawi.com)

Rouillac C, Colin Y, Hughes JN, Beolet M, D'Ambrosio AM, Cartron JP, Le Van Kim C: Transcript analysis of D category phenotypes predicts hybrid Rh D-CE-D proteins associated with alteration of D epitopes. (karger.com)

Does the frailty phenotype at the age of 66 to 71 predict death? (smw.ch)

CONCLUSIONS: The significantly higher mortality of individuals presenting 1+ frailty criteria supports the appropriateness of a systematic assessment of the frailty phenotype at the age of 66-71 years. (smw.ch)

Future evaluation of individual factors associated with treatment outcome will contribute to advancing tailored tobacco use treatment with the goal of enhancing treatment and reducing health disparities for African American light smokers. (who.int)

This phenotype has recently attracted interest in other medical specialties for risk assessment before stressful interventions in older adults. (smw.ch)
Frailty in older adults: evidence for a phenotype. (smw.ch)

Aberrant behaviours such as self-injury, screaming and aggression are common in behavioural phenotypes. (herts.ac.uk)

It is identified by a specific phenotype that contributes to the practice of geriatric medicine, where it is considered a potential target for preventive action. (smw.ch)

Bone dimensions of the contra-lateral site of the augmentation, representing the "individual phenotypical dimension (IPD) of the alveolar crest", were superimposed on the augmented site and registered accordingly. (bvsalud.org)

One may also use p values, for instance by performing a Fisher's exact test at each site with the null hypothesis that the given site has no effect on the phenotype, and then making a Bonferroni correction [ 7 ]. (biomedcentral.com)

RHD genotyping in weak D phenotypes by multiple polymerase chain reactions. (karger.com)

Microglia may be divided into four main states or phenotypes. (frontiersin.org)

siRNA treatment ameliorated the preeclamptic phenotype in both models, reduced blood pressure, and improved intrauterine growth restriction, with no observed deleterious effects on the fetus. (jci.org)
An individualized screening plan followed by the timely treatment for SIBO should be carried out as part of quality of care improvement in CD individuals. (scielo.br)

Suggested citation for this article: Hohman KH, Zambarano B, phenotype for hypertension. (cdc.gov)

Significant upregulation of major intestinal sugar transporters, including SGLT1, GLU2 and GLUT5 was responsible for hyper-absorptive phenotype and their pharmacologic inhibition significantly decreased glucose absorption. (mayo.edu)

These findings will allow clinicians and families to anticipate and prepare better for the needs of individuals with RTT. (bmj.com)

Chemicals and Drugs1

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Psychiatry and Psychology1

Phenomena and Processes3

Information Science4

Genotype8

Clinical14

Term phenotype1

Populations1

Allele6

Genetic8

Heterozygous3

Characteristics4

Variants7

Heterogeneity1

Alterations2

MeCP21

Recessive1

Mutations4

Observable1

Genes1

Phenotypic3

Obese2

Advantageous1

Enzymes1

Metabolism2

Subset3

Gene1

Symptoms3

Cardiovascular2

Facial5

Genomic2

Consistent1

Respiratory1

COPD2

Patients1

Limits1

Disorders1

Results1

Intellectual disability2

Prevalence2

Syndrome6

African Americans1

Study3

Analysis1

Predict1

Systematic1

Evaluation1

Adults2

Common1

PRACTICE1

Alveolar1

Hypothesis1

Weak1

Main1

Treatment2

Article1

Significantly1

Findings1