*  Institute of Cancer Research Repository - Genetic Diagnosis of High-Penetrance Susceptibility for Colorectal Cancer (CRC) Is...
Purpose Knowledge of the contribution of high-penetrance susceptibility to familial colorectal cancer (CRC) is relevant to the ... Genetic Diagnosis of High-Penetrance Susceptibility for Colorectal Cancer (CRC) Is Achievable for a High Proportion of Familial ... Genetic Diagnosis of High-Penetrance Susceptibility for Colorectal Cancer (CRC) Is Achievable for a High Proportion of Familial ...
  http://publications.icr.ac.uk/14088/
*  VackvSuG: The alternative method; diss the two L-suicide beta-substrates
... of familial transmission the presence of a rare major mendelian gene for PD for a gene that influences age-dependent penetrance ...
  http://lnwme.blogspot.com/2008/07/alternative-method-diss-two-l-suicide.html
*  Penetrance?
... Paul G Johnson-1 john0130 at gold.tc.umn.edu Mon Jan 31 08:39:51 EST 1994 *Previous message: Embryonic Induction ... What is the general view of the term and phenomena of 'penetrance?' This refers to differential expression of a phenotype under ... My question arises because I may be seeing differing 'penetrance' of flowering genes in Poa annua due to environment and ...
  http://www.bio.net/bionet/mm/plantbio/1994-January/002564.html
*  tag/penetrance/
Search penetrance at Google. Search penetrance at Yahoo. Search penetrance at Bing. ... We're sorry, that page (http://www.bio-medicine.org/tag/Penetrance/) was not found.. ...
  http://www.bio-medicine.org/tag/Penetrance/
*  PHG Foundation - Interactive Tutorial: Penetrance - Introduction
Penetrance is the probability that a person carrying a disease-associated genotype will develop the disease within a given time ... If you were to think about it as an equation, penetrance is the number of individuals displaying clinical features of a ... A disease is said to show incomplete or reduced penetrance when it has clearly been demonstrated that individuals who possess a ... A disease is said to show complete penetrance if a person carrying a disease associated genotype always develops the condition ...
  http://www.phgfoundation.org/tutorials/penetrance/
*  Hemochromatosis--Genetic Prevalence and Penetrance - Full Text View - ClinicalTrials.gov
Hemochromatosis--Genetic Prevalence and Penetrance. The safety and scientific validity of this study is the responsibility of ... Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients. Blood Cells Mol Dis. 2002 Jul-Aug;29(1):41 ... Third, the comparison of genotype and phenotype will allow them to draw useful inferences about disease penetrance. The results ... However, several important questions about genetic prevalence and penetrance remain to be addressed before such a ...
  https://clinicaltrials.gov/ct2/show/NCT00006312
*  postnatal lethality, complete penetrance Mammalian Phenotype Term (MP:0011085)
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
  http://www.informatics.jax.org/vocab/mp_ontology/MP:0011085
*  Penetrance of Hypertrophic Cardiomyopathy in Children and AdolescentsClinical Perspective | Circulation
We studied the penetrance of HCM and the short- and long-term outcomes of clinical screening and predictive genetic testing of ... Conclusions-The penetrance of HCM in phenotype-negative child relatives at risk of developing HCM was 6% after 12 years of ... Penetrance of Hypertrophic Cardiomyopathy in Children and AdolescentsClinical Perspective. Morten K. Jensen, Ole Havndrup, ... Penetrance of Hypertrophic Cardiomyopathy in Children and AdolescentsClinical Perspective. Morten K. Jensen, Ole Havndrup, ...
  http://circ.ahajournals.org/content/127/1/48.short?rss=1
*  What are reduced penetrance and variable expressivity? - Genetics Home Reference - NIH
Reduced penetrance. Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a ... For more information about reduced penetrance and variable expressivity:. Additional information about penetrance and ... penetrance. Reduced penetrance often occurs with familial cancer syndromes. For example, many people with a mutation in the ... Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are ...
  https://ghr.nlm.nih.gov/primer/inheritance/penetranceexpressivity
*  Dr. Tuuli Lappalainen awarded major NIH grant to study variable penetrance | EurekAlert! Science News
"This will be the first comprehensive work on characterizing how important this phenomenon is and how it can affect penetrance ... dr-tuuli-lappalainen-awarded-major-nih-grant-study-genomic-phenomenon-variable-penetrance/. ... Tuuli Lappalainen awarded major NIH grant to study variable penetrance New York Genome Center and Columbia University ... The Lappalainen Lab will examine the important implications of variable penetrance in human evolution and disease. A clearer ...
  https://www.eurekalert.org/pub_releases/2017-06/nygc-dtl061217.php
*  Interaction between genetic susceptibility and early-life environmental exposure determines tumor-suppressor-gene penetrance |...
Female rats carrying the Eker mutation (Tsc-2 Ek/+) spontaneously develop uterine leiomyomas with a penetrance of 65% by 16 mo ... Tsc-2 Tumor-Suppressor-Gene Penetrance Is Increased in Animals in Response to Hormonal Imprinting. To determine the impact of ... Interaction between genetic susceptibility and early-life environmental exposure determines tumor-suppressor-gene penetrance. ... Traditionally, gene-environment interactions are thought to contribute to tumor-suppressor-gene penetrance by facilitating or ...
  http://www.pnas.org/content/102/24/8644?ijkey=63c223ed5f34e7860d356ae62066476de902cb61&keytype2=tf_ipsecsha
*  Retinal Electrophysiology Is a Viable Preclinical Biomarker for Drug Penetrance into the Central Nervous System
... Jason Charng,1 ... To examine whether retinal electrophysiology is a useful surrogate marker of drug penetrance into the central nervous system ( ...
  https://www.hindawi.com/journals/joph/2016/5801826/abs/
*  PLOS Genetics: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Our results indicate that it is unlikely that other common variants have a strong modifying effect on BRCA2 penetrance. ... To determine whether common genetic variants modify the penetrance of BRCA2 mutations, we conducted the first genome-wide ... Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer ... Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer ...
  http://journals.plos.org/plosgenetics/article/authors?id=10.1371/journal.pgen.1001183
*  Penetrance - Wikipedia
The penetrance of the condition is therefore 80%. High and low penetrance: If an allele is highly penetrant, then the trait it ... The penetrance is 100%. Common examples used to show degrees of penetrance are often highly penetrant. There are several ... An allele with low penetrance will only occasionally produce the trait with which it is associated. In cases of low penetrance ... In one study the age-related penetrance of MEN1 was 7% by age 10 but nearly 100% by age 60. Environmental modifiers: Penetrance ...
  https://en.wikipedia.org/wiki/Penetrance
*  Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. -...
Inhibition of RpII function causes penetrance of SMARCAL1, Marcal1 and Smarcal1 deficiency. (A) Graph showing the proliferation ... Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.. ... Model depicting the contribution of thresholded variations in gene expression to the penetrance of SIOD. (A) SMARCAL1 orthologs ... Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression ...
  https://www.ncbi.nlm.nih.gov/pubmed/22378147
*  Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer | Cancer Epidemiology, Biomarkers & Prevention
Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Aung Ko Win, Mark A. Jenkins, James G. Dowty, ... Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Aung Ko Win, Mark A. Jenkins, James G. Dowty, ... Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer. Aung Ko Win, Mark A. Jenkins, James G. Dowty, ... Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer Message Subject (Your Name) has forwarded a page ...
  http://cebp.aacrjournals.org/content/26/3/404
*  BioScience Dictionary :: Incomplete penetrance
Found Incomplete penetrance 1 time.. Displaying results 1 to 10.. 1. Incomplete penetrance. A state in which a group of ... Incomplete penetrance is most likely the result of environmental effects. For example, if all of the individuals have the gene ...
  http://www.bioscience.ws/dictionary/index.shtml?search=Define%20Incomplete%20penetrance
*  The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion. | Sigma-Aldrich
The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.. [Catherine Dehainault, ... In this study, we define a minimal genomic region associated with this low penetrance. This region encompasses few genes ... We propose that the contiguous loss of the adjacent retinoblastoma gene, MED4, explains the low penetrance in patients with ...
  https://www.sigmaaldrich.com/catalog/papers/24858910
*  Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2...
Mutations in LRRK2 represent the most common causes of Parkinson's disease (PD) identified to date, but their penetrance is ... Analysis on a Possible Modifier Effect on LRRK2 Penetrance. Paolo Solla,1,2 Antonino Cannas,1 Gianluca Floris,1 Maria Rita ... in order to detect a possible modifier effect on penetrance. Eight families with nine PD patients with heterozygous LRRK2 ... no support to the hypothesis whereby such parkin gene mutations may be commonly implicated in possible effect on penetrance in ...
  https://www.hindawi.com/journals/pd/2010/537698/abs/
*  Parkin Exon Rearrangements and Sequence Variants in LRRK2 Mutations Carriers: Analysis on a Possible Modifier Effect on LRRK2...
D. Gosal, T. Lynch, O. A. Ross, K. Haugarvoll, M. J. Farrer, and J. M. Gibson, "Global distribution and reduced penetrance: ... S. Goldwurm, M. Zini, L. Mariani et al., "Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson ... V. Bonifati, "LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg) -Linking familial and sporadic ... Analysis on a Possible Modifier Effect on LRRK2 Penetrance. Paolo Solla,1,2 Antonino Cannas,1 Gianluca Floris,1 Maria Rita ...
  https://www.hindawi.com/journals/pd/2010/537698/ref/
*  Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene.
Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene.. код для вставки. код для ... dominant inheritance with complete penetrance, (2) dominant inheritance with reduced penetrance, (3) recessive inheritance, (4 ... Which role are we potentially prepared to accept for this so-called "trigger factor"? In a family with very low penetrance, in ... One can consider that N19S is either responsible for ALS with very low penetrance or only plays a secondary role regarding ...
  https://www.docme.ru/doc/1942564/disease-penetrance-in-amyotrophic-lateral-sclerosis-assoc...
*  Hepatocellular carcinoma and the penetrance of HFEC282Y mutations: a cross sectional study | Springer for Research & Development
The value of screening depends on the penetrance of the HFE genotypes. Penetrance in this case can be defined as the frequency ... We found zero penetrance for the HFE C282Y homozygous genotype with respect to HCC in women. We have previously shown that, in ... The penetrance of the C282Y homozygous genotype with respect to HCC. The mean annual incidence of HCC in East Anglia between ... The zero penetrance described in this study for female HFE C282Y homozygotes developing HCC is at odds with proposals for whole ...
  https://rd.springer.com/article/10.1186/1471-230X-5-17
*  Penetrance Estimation of Macular Telangiectasia Type 2 (MacTel) from Families in Utah and Idaho | IOVS | ARVO Journals
Sibling penetrance may be a low estimate because some of the siblings may still be too young to exhibit symptoms. Also, the ... If p is the penetrance probability of a candidate gene causing MacTel and under the assumption that this disease is very rare, ... From our sibling data, we estimate the penetrance to be 0.41 (standard error: 0.12, 95% CI: 0.17, 0.65). From analysis of our ... Conclusions : Our results show that the penetrance of MacTel is 41% by sibling analysis and 75% by parent analysis. ...
  https://iovs.arvojournals.org/article.aspx?articleid=2637219