Search Results - "PAULIN, F"
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SVhound: detection of regions that harbor yet undetected structural variation
Published in BMC bioinformatics (20-01-2023)“…Recent population studies are ever growing in number of samples to investigate the diversity of a population or species. These studies reveal new polymorphism…”
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2
Poly(ADP-ribose) glycohydrolase coordinates meiotic DNA double-strand break induction and repair independent of its catalytic activity
Published in Nature communications (25-09-2020)“…Poly(ADP-ribosyl)ation is a reversible post-translational modification synthetized by ADP-ribose transferases and removed by poly(ADP-ribose) glycohydrolase…”
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3
FixItFelix: improving genomic analysis by fixing reference errors
Published in Genome Biology (21-02-2023)“…The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed…”
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4
Lung ultrasound is a promising screening tool to rule out interstitial lung disease in patients with rheumatoid arthritis
Published in Respirology (Carlton, Vic.) (01-07-2024)“…Background and Objective It is still controversial how to screen for interstitial lung disease (ILD) in patients with rheumatoid arthritis (RA). We aimed to…”
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Preservation of mannanase Eupenicillium javanicum in solid state fermentation using glycerol and polyol
Published in South African journal of animal science (01-01-2023)“…The digestibility of palm kernel meal can be increased using mannanase. Enzyme application in the field requires a preservation process. The aim of this study…”
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6
Pre-treatment plasma proteomic markers associated with survival in oesophageal cancer
Published in British journal of cancer (28-02-2012)“…Background: The incidence of oesophageal adenocarcinoma is increasing worldwide but survival remains poor. Neoadjuvant chemotherapy can improve survival, but…”
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk
Published in BMC medical genomics (24-10-2024)“…The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN)…”
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Detection of oesophageal cancer biomarkers by plasma proteomic profiling of human cell line xenografts in response to chemotherapy
Published in British journal of cancer (13-07-2010)“…Background: The incidence of oesophageal adenocarcinoma is increasing worldwide but survival remains poor. Neoadjuvant chemotherapy may improve survival, but…”
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Efficacy of a new nutraceutical formulation: L-tryptophan, probiotics, charcoal, chamomile, mint, and licorice (COLONIR®) in the improvement of gastrointestinal symptoms in subjects with irritable bowel syndrome
Published in Minerva gastroenterology (01-03-2023)“…Irritable bowel syndrome (IBS) is one of the most common functional gastrointestinal disorders. IBS is characterized by recurrent chronic abdominal pain and…”
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10
Prognostic value of static and dynamic biomarkers in COVID-19 patients: a prospective cohort study
Published in Revista española de quimioterapia (01-08-2021)“…Objective. The aim of this study was to analyze in a prospective cohort of hospitalized COVID-19 patients the relationship between biomarkers levels and their…”
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PhyloFlu, a DNA Microarray for Determining the Phylogenetic Origin of Influenza A Virus Gene Segments and the Genomic Fingerprint of Viral Strains
Published in Journal of Clinical Microbiology (01-03-2014)“…Classifications Services JCM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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12
Detection of mosaic and population-level structural variants with Sniffles2
Published in Nature biotechnology (02-01-2024)“…Calling structural variations (SVs) is technically challenging, but using long reads remains the most accurate way to identify complex genomic alterations…”
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13
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
Published in Cell genomics (10-07-2024)“…The duplication-triplication/inverted-duplication (DUP-TRP/INV-DUP) structure is a complex genomic rearrangement (CGR). Although it has been identified as an…”
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14
Improved sequence mapping using a complete reference genome and lift-over
Published in Nature methods (01-01-2024)“…Complete, telomere-to-telomere (T2T) genome assemblies promise improved analyses and the discovery of new variants, but many essential genomic resources remain…”
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15
ATM controls meiotic DNA double-strand break formation and recombination and affects synaptonemal complex organization in plants
Published in The Plant cell (02-07-2021)“…Meiosis is a specialized cell division that gives rise to genetically distinct gametic cells. Meiosis relies on the tightly controlled formation of DNA…”
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16
C-myc 5' untranslated region contains an internal ribosome entry segment
Published in Oncogene (22-01-1998)“…Translation in eukaryotic cells is generally initiated by ribosome scanning from the 5' end of the capped mRNA. However, initiation of translation may also…”
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Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2
Published in Nature biotechnology (22-01-2024)Get full text
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18
The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms [version 1; peer review: 1 approved, 3 approved with reservations]
Published in F1000 research (2022)“…In October 2021, 59 scientists from 14 countries and 13 U.S. states collaborated virtually in the Third Annual Baylor College of Medicine & DNANexus Structural…”
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Social and functional inclusion of an undergraduate student with unilateral upper limb agenesis: a case study
Published in Disability and rehabilitation: Assistive technology (01-05-2024)“…The inclusion of health professionals who have some type of disability brings benefits, such as the increase in empathy that facilitates the relationship with…”
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Successful management of intrauterine twin and concomitant cervical pregnancy: a case report
Published in Fetal diagnosis and therapy (01-01-2006)“…Use of in vitro fertilization techniques increases the frequency of pathological implantation. However, simultaneous pregnancies are a rarity. Ectopic…”
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