Loading...
*  Hereditary Hemochromatosis - American Family Physician
... the positive predictive value for detection of C282Y homozygotes ranges from 1.6 to 17.6 percent.17 ...
https://www.aafp.org/afp/2013/0201/p183.html
*  The val158met COMT polymorphism's effect on atrophy in healthy aging and Parkinson's disease. - Oxford Neuroscience
The insula and ventral prefrontal cortex had higher grey matter volume in younger, but not older, ValVal homozygotes. ... Male and female ValVal homozygotes (low prefrontal cortical dopamine) had more grey matter in early adulthood, but this ... Male and female ValVal homozygotes (low prefrontal cortical dopamine) had more grey matter in early adulthood, but this ... The insula and ventral prefrontal cortex had higher grey matter volume in younger, but not older, ValVal homozygotes. ...
https://www.neuroscience.ox.ac.uk/publications/383298
*  Methylenetetrahydrofolate reductase deficiency - Wikipedia
The resulting enzyme is thermolabile and in homozygotes, enzymatic activity is depressed to 35% of its usual level. The second ...
https://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase_deficiency
*  Synonyms for homozygote | Synonym.com
1. homozygote (n.). (genetics) an organism having two identical alleles of a particular gene and so breeding true for the ...
http://www.synonym.com/synonyms/homozygote
*  what is the level of gene expression in a homozygote and heterozygote?
Subject: what is the level of gene expression in a homozygote and heterozygote?. Date: Sat Jul 25 19:00:38 1998. Posted by ... Re: what is the level of gene expression in a homozygote and heterozygote? Current Queue , Current Queue for Genetics , ... I would like to know about the level of gene expression in homozygote and heterozygote with respect to a transgenic loci and a ... wild type loci? I am under the impression that the level of gene expression in a homozygote and a heterozygote in the case of a ...
http://www.madsci.org/posts/archives/1998-10/904867873.Ge.q.html
*  Re: what is the level of gene expression in a homozygote and heterozygote?
... Date: Mon Aug 31 15:54:48 1998. Posted By: Wayde ... and a homozygote for a would be 2(a). This should hold true for genes introduced by transgenic methods as well, assuming that ...
http://www.madsci.org/posts/archives/1998-10/904867873.Ge.r.html
*  So many homozygote variants in vcf
How to extract Homozygote variants froma VCF format? I am doing SNP analysis on whole genome saccharomyces cerevisiae. I want ... I have a multi-sample VCF and I would like to count the # of heterozygotes and # of homozygotes f... ... My problem is that most Genotype are reported as variant homozygote (1/1 ) with good numbers of suporting reads.Unfortunatly i ... files.I tried by filtering another fields to get rid of false positive variants but at the end since most of GT are homozygote ...
https://www.biostars.org/p/300645/
*  JCI - Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.. S ... In Smith-Lemli-Opitz homozygotes, the transformation of 7-dehydrocholesterol to cholesterol by hepatic microsomes was blocked ... Thus, lathosterol 5-dehydrogenase is equally active which indicates that homozygotes liver microsomes are viable. Accordingly, ... to form 7-dehydrocholesterol that is catalyzed by lathosterol-5-dehydrogenase was equally rapid in controls and homozygotes ...
https://www.jci.org/articles/view/118223
*  Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in...
Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in ... The patient was found to have a homozygote mutation in the methylenetetrahydrofolate reductase (MTHFR) gene as an additional ... Intracardiac and intracerebral thrombosis associated with methylenetetrahydrofolate reductase A1298C homozygote mutation in ...
https://www.ajol.info/index.php/sajchh/article/view/150142
*  Efficient assembly and annotation of the transcriptome of catfish by RNA-Seq analysis of a doubled haploid homozygote | BMC...
The advantages offered by the use of a homozygote are applicable to most teleost species where doubled haploid can be made. Our ... Efficient assembly and annotation of the transcriptome of catfish by RNA-Seq analysis of a doubled haploid homozygote. ...
https://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2164-13-595
*  Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G--|A mutation: role of the beta...
Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G--,A mutation: role of the beta ... Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G--,A mutation: role of the beta ... Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G--,A mutation: role of the beta ...
http://www.haematologica.org/content/88/10/1099
*  Different outcome of six homozygotes for prothrombin A20210A gene variant | Journal of Translational Medicine | Full Text
We describe six homozygotes for the G20210A variant, among which the first pair of siblings (cases n. 3 and 4) reported so far ... She was homozygote for FII G20210A, without other laboratory alterations (i.e. PC, PS or ATIII deficiencies, FVL or MTHFR ... Thus, homozygotes for the G20210A are at risk for arterial (in addition to venous) thromobotic events; chronic liver disease ... Laboratory revealed she was homozygote for FII G20210A, with a normal activity of ATIII, PC and PS, the absence of the Factor V ...
https://translational-medicine.biomedcentral.com/articles/10.1186/1479-5876-6-36
*  Amplicon Melting Analysis with Labeled Primers: A Closed-Tube Method for Differentiating Homozygotes and Heterozygotes |...
Similarly, different homozygotes can often be distinguished, including homozygotes that differ by only a single base. We focus ... All homozygotes tested were distinguished from each other, including Hb AA and Hb SS, which differed in Tm by ,0.2 °C. The ... All homozygotes tested at the HTR2A, β-globin, and cystic fibrosis loci were distinguishable by Tm on the high-resolution ... The predicted and observed Tm differences between the wild type and mutant (ΔTm) for homozygotes are also provided in the ...
http://clinchem.aaccjnls.org/content/49/3/396?ijkey=52710258e2751f9ef1a63c9cbef49fbe6f057d60&keytype2=tf_ipsecsha
*  question of Minimum frequency to call homozygote by HaplotypeCaller - GATK-Forum
Other software set the frequency to call homozygote is 0.75. ... I want to know the threshold to define homozygote and ... Hi,I want to know the threshold to define homozygote and heterozygote .Other software set the frequency to call homozygote is ...
https://gatkforums.broadinstitute.org/gatk/discussion/8003/question-of-minimum-frequency-to-call-homozygote-by-haplotypecaller
*  R activation d une h patite B occulte chez un patient dr panocytaire homozygote: cas clinique et revue de la litt rature
... dr panocytaire homozygote, qui pr sentait un ict re de type cholestatique chez qui l'exploration biologique concluait a une r ... R activation d une h patite B occulte chez un patient dr panocytaire homozygote: cas clinique et revue de la litt rature ... R activation d une h patite B occulte chez un patient dr panocytaire homozygote: cas clinique et revue de la litt rature. ... Mots cl s: Hépatite B occulte, réactivation, drépanocytose homozygote © Moustapha Diop et al. The Pan African Medical Journal ...
http://panafrican-med-journal.com/content/article/28/127/full/
*  A rapid one-tube PCR method for simultaneously differentiating homozygotes and heterozygotes of the Sp1 binding site...
A rapid one-tube PCR method for simultaneously differentiating homozygotes and heterozygotes of the Sp1 binding site ... This paper describes a Bidirectional PASA (Bi-PASA) method, which was developed to distinguish between homozygotes and ...
http://oru.diva-portal.org/smash/record.jsf?pid=diva2:389863
*  Interleukin-2 receptor beta (IL-2R beta)-627*C homozygote but not IL-12R beta 1 codon 378 or IL-18 105 polymorphism is...
2 R-627*C homozygote and C allele are related to higher susceptibility to endometriosis. Interleukin-12Rbeta1 codon 378 and IL- ... Interleukin-2 receptor beta (IL-2R beta)-627*C homozygote but not IL-12R beta 1 codon 378 or IL-18 105 polymorphism is ... article{Hsieh2005Interleukin2RB, title={Interleukin-2 receptor beta (IL-2R beta)-627*C homozygote but not IL-12R beta 1 codon ... Interleukin (IL)-2 R-627*C homozygote and C allele are related to higher susceptibility to endometriosis. Interleukin-12Rbeta1 ...
https://www.semanticscholar.org/paper/Interleukin-2-receptor-beta-%28IL-2R-beta%29-627
*  Natural history of C282Y homozygotes for hemochromatosis: PATIENTS AND METHODS Part 2
Natural history of C282Y homozygotes for hemochromatosis: DISCUSSION Part 3. *Natural history of C282Y homozygotes for ... Natural history of C282Y homozygotes for hemochromatosis: RESULTS Part 2. *Natural history of C282Y homozygotes for ... Long term survival was significantly lower in cirrhotic (n=40) than in noncirrhotic C282Y homozygotes (n=237) (P ... Natural history of C282Y homozygotes for hemochromatosis: PATIENTS AND METHODS Part 2. In: Hemochromatosis ...
http://www.anesthesiaprogress.com/natural-history-of-c282y-homozygotes-for-hemochromatosis-patients-and-methods-part-2.html
*  CRISPR with Independent Transgenes or Mutagenic Chain Reaction for Creating Homozygotes in Lab? : IGTRCN
CRISPR with Independent Transgenes or Mutagenic Chain Reaction for Creating Homozygotes in Lab? May 6, 2015. By Nathaniel ... construct flanked by sequences homologous to the target gene leading to the conversion of heterozygotes to homozygotes. ...
https://igtrcn.org/crispr-with-independent-transgenes-or-mutagenic-chain-reaction-for-creating-homozygotes-in-lab/
*  HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis - Pedigree
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis Reference ... HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis. Hepatology ...
http://www.pedigree.org.au/about-pedigree/project-and-publications/pubs/pages/pub_224.aspx
*  Basic molecular genetics for epidemiologists | Journal of Epidemiology & Community Health
HOMOZYGOTE. Individual that carries two copies of the same alleles at the same site in the two homologous chromosomes of a ...
https://jech.bmj.com/content/57/6/398.full