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{userid:"claude.ferec", "articletype":"article","pages":"225-227","author":"S R Rivard, C Allard, J P Leblanc, M Milot, G Aubin, F Simard, C F\u00e9rec, M de Braekeleer","year":"2000","title":"Correlation between mutations and age in cystic fibrosis in a French Canadian population.","month":"Mar","journal":"Journal of medical genetics","publisher":"","volume":"37","number":"3","note":"","tags":"Age Factors,Canada,Cystic Fibrosis,Cystic Fibrosis Transmembrane Conductance Regulator,France,Humans,Mutation,Survival Analysis","booktitle":"","editor":"","abstract":"","address":"","school":"","issn":"0022-2593","doi":"","isi":"","pubmed":"10777368","key":"Rivard2000","howpublished":"","urllink":"","refid":297,"weight":297}
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{userid:"j.radua", "articletype":"article","pages":"","author":"Jules R Dugr\u00e9, Joaquim Radua, Matthieu Carignan-Allard, Alexandre Dumais, Katya Rubia, St\u00e9phane Potvin","year":"2020","title":"Neurofunctional Abnormalities in Antisocial Spectrum: A Meta-analysis of fMRI studies on Five distinct Neurocognitive Research Domains.","month":"Sep","journal":"Neuroscience and biobehavioral reviews","publisher":"","volume":"","number":"","note":"","tags":"","booktitle":"","editor":"","abstract":"Past functional magnetic resonance imaging on antisocial subjects have shown important inconsistencies and methodological problems (e.g. heterogeneity in fMRI tasks domain, small sample sizes, analyses on regions-of-interest). We aimed to conduct a meta-analysis of whole-brain fMRI studies on antisocial individuals based on distinct neurocognitive domains. A voxel-based meta-analysis via permutation of subject images (SDM-PSI) was performed on studies using fMRI tasks in the domains of acute threat response, cognitive control, social cognition, punishment and reward processing. Overall, 83 studies were retrieved. Using a liberal statistical threshold, several key regions were identified in the meta-analysis, principally during acute threat response, social cognition and cognitive control tasks. Additionally, we observed that the right amygdala was negatively associated with both callous-unemotional traits and severity of antisocial behaviors, in meta-analyses on region-of-interest and on dimensional studies, respectively. The findings show that the most prominent functional brain deficits arise during acute threat response, social cognitions and cognitive control neurocognitive domains. These results provide substantial insights for our understanding of aberrant neural processing across specific contexts.","address":"","school":"","issn":"1873-7528","doi":"10.1016\/j.neubiorev.2020.09.013","isi":"","pubmed":"32956690","key":"Dugr\u00e92020","howpublished":"","urllink":"","refid":116,"weight":116}
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{userid:"rebekah.gundry", "articletype":"article","pages":"562-72","author":"Rebekah L Gundry, Marc W Allard, Tamyra R Moretti, Rodney L Honeycutt, Mark R Wilson, Keith L Monson, David R Foran","year":"2007","title":"Mitochondrial DNA analysis of the domestic dog : control region variation within and among breeds.","month":"may","journal":"Journal of forensic sciences","publisher":"","volume":"52","number":"3","note":"","tags":"Animals,DNA Primers,DNA, Mitochondrial,DNA, Mitochondrial: genetics,Dogs,Dogs: genetics,Haplotypes,Phylogeny,Polymorphism, Single Nucleotide,Sequence Analysis, DNA","booktitle":"","editor":"","abstract":"The mitochondrial DNA (mtDNA) control regions of 125 domestic dogs (Canis familiaris) encompassing 43 breeds, as well as one coyote and two wolves were sequenced and subsequently examined for sequence variation in an effort to construct a reference dog mtDNA data set for forensic analysis. Forty informative variable sites were identified that described 45 haplotypes, 29 of which were observed only once. Substantial variation was found both within and among breeds in the mtDNA derived from tissue, indicating that analysis of the mtDNA derived from dog hairs could be a valuable, discriminating piece of evidence in forensic investigations. The dog data set single nucleotide polymorphisms (SNPs) ranged from having one to six changes on a phylogenetic tree. On average, there were 1.9 character changes for each variable position on the tree. The most variable sites (with four or more changes each, listed from the most changes to the fewest) observed were 15,639 (L=6), 16,672 (L=5), 15,955 (L=4), 15,627 (L=3), 16,431 (L=3), and 16,439 (L=3). These sites were consistent with other reports on variable positions in the dog mtDNA genome. A total of 26 SNPs were chosen to best identify all major clusters in the domestic dog data set. The descriptive analyses revealed that this data set is similar to other published canine data sets and further demonstrates that this domestic dog data set is a useful resource for forensic applications. This reference data set has been compiled and validated against the published dog genetic literature with an aim to aid forensic investigations that seek to incorporate mtDNA sequences and SNPs from trace evidence such as dog hair.","address":"","school":"","issn":"0022-1198","doi":"10.1111\/j.1556-4029.2007.00425.x","isi":"","pubmed":"","key":"Gundry2007b","howpublished":"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17456083","urllink":"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/17456083","refid":26,"weight":26}
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{userid:"nikolakisgeorgios", "refid":"7","repocollections":"","attachment":"","_thumb":"","articletype":"article","sectionheading":"","title":"Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa.","year":"2020","author":"Sabine Duchatelet, Snaigune Miskinyte, Maia Delage, Marie-No\u00eblle Ungeheuer, Thi Lam, Farida Benhadou, V\u00e9ronique Del Marmol, Allard R J V Vossen, Errol P Prens, Olivier Cogrel, Marie Beylot-Barry, C\u00e9line Girard, Julien Vidil, Olivier Join-Lambert, M\u00e9lanie Parisot, Patrick Nitschk\u00e9, Sylvain Hanein, Sylvie Fraitag, Hessel H Van der Zee, Didier Bessis, Giovanni Damiani, Andrea Altomare, Yi-Hua Liao, Georgios Nikolakis, Christos C Zouboulis, Aude Nassif, Alain Hovnanian","journal":"The Journal of investigative dermatology","volume":"140","number":"10","pages":"2085-2088.e14","month":"10","doi":"10.1016\/j.jid.2019.10.025","pubmed":"32142795","pdflink":"","urllink":"","abstract":"","note":"","tags":"Adolescent,Adult,Aged,Amyloid Precursor Protein Secretases,Cohort Studies,Female,Hidradenitis Suppurativa,Humans,Male,Membrane Glycoproteins,Membrane Proteins,Middle Aged,Mutation,Presenilin-1,Young Adult","weight":"7","publisher":"","booktitle":"","editor":"","address":"","school":"","issn":"1523-1747","isi":"","key":"Duchatelet2020","howpublished":""}
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