Search Results - "Unneberg, P."
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The genomic landscape underlying phenotypic integrity in the face of gene flow in crows
Published in Science (American Association for the Advancement of Science) (20-06-2014)“…The importance, extent, and mode of interspecific gene flow for the evolution of species has long been debated. Characterization of genomic differentiation in…”
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Genome of Black Cottonwood, Populus trichocarpa (Torr. & Gray)
Published in Science (American Association for the Advancement of Science) (15-09-2006)“…We report the draft genome of the black cottonwood tree, Populus trichocarpa. Integration of shotgun sequence assembly with genetic mapping enabled…”
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Association and Mutation Analyses of the IRF6 Gene in Families with Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate
Published in The Cleft palate-craniofacial journal (01-01-2014)“…Objectives (1) To detect interferon regulatory factor 6 gene (IRF6) mutations in newly recruited Van der Woude syndrome (VWS) and popliteal pterygium syndrome…”
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P-005 Aberrant splicing during erythroid differentiation in SF3B1 mutated sideroblastic anemia
Published in Leukemia research (01-05-2013)Get full text
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SNP discovery using advanced algorithms and neural networks
Published in Bioinformatics (15-05-2005)“…Forage is an application which uses two neural networks for detecting single nucleotide polymorphisms (SNPs). Potential SNP candidates are identified in…”
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Transcript identification by analysis of short sequence tags—influence of tag length, restriction site and transcript database
Published in Nucleic acids research (15-04-2003)“…There exist a number of gene expression profiling techniques that utilize restriction enzymes for generation of short expressed sequence tags. We have studied…”
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Monitoring of representational difference analysis subtraction procedures by global microarrays
Published in BioTechniques (01-06-2002)“…Various approaches to the study of differential gene expression are applied to compare cell lines and tissue samples in a wide range of biological contexts…”
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Shotgun sequencing and microarray analysis of RDA transcripts
Published in Gene (22-05-2003)“…Monitoring of differential gene expression is an important step towards understanding of gene function. We describe a comparison of the representational…”
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The zebrafish transcriptome during early development
Published in BMC developmental biology (24-05-2011)“…The transition from fertilized egg to embryo is accompanied by a multitude of changes in gene expression, and the transcriptional events that underlie these…”
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Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development
Published in American journal of human genetics (02-01-2014)“…Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and…”
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Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts
Published in British journal of haematology (01-11-2015)“…Summary Refractory anaemia with ring sideroblasts (RARS) is distinguished by hyperplastic inefficient erythropoiesis, aberrant mitochondrial ferritin…”
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Differences in gene expression between mouse and human for dynamically regulated genes in early embryo
Published in PloS one (04-08-2014)“…Infertility is a worldwide concern that can be treated with in vitro fertilization (IVF). Improvements in IVF and infertility treatment depend largely on…”
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Genetic Variants in CHIA and CHI3L1 Are Associated with the IgE Response to the Ascaris Resistance Marker ABA-1 and the Birch Pollen Allergen Bet v 1
Published in PloS one (15-12-2016)“…Helminth infections and allergic diseases are associated with IgE hyperresponsiveness but the genetics of this phenotype remain to be defined. Susceptibility…”
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Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy
Published in International journal of cardiology (01-02-2017)“…Abstract Background Germline genetic variants are an important cause of dilated cardiomyopathy (DCM). However, recent sequencing studies have revealed rare…”
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The role of germline alterations in the DNA damage response genes BRIP1 and BRCA2 in melanoma susceptibility
Published in Genes chromosomes & cancer (01-07-2016)“…We applied a targeted sequencing approach to identify germline mutations conferring a moderately to highly increased risk of cutaneous and uveal melanoma…”
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Populus EST resource for plant functional genomics
Published in Proceedings of the National Academy of Sciences - PNAS (21-09-2004)“…Trees present a life form of paramount importance for terrestrial ecosystems and human societies because of their ecological structure and physiological…”
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Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate
Published in The Cleft palate-craniofacial journal (01-07-2013)Get full text
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Erythropoiesis In SF3B1 Mutated RARS Is Disrupted During Terminal Erythroid Maturation
Published in BLOOD (15-11-2013)“…▪ Refractory anemia with ring sideroblasts (RARS) is characterized by severe anemia, erythroid apoptosis and aberrant mitochondrial ferritin accumulation in…”
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