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1. Full Text Landscape of transcription in human cells
by Djebali, Sarah and Davis, Carrie A and Merkel, Angelika and Dobin, Alex and Lassmann, Timo and Mortazavi, Ali and Tanzer, Andrea and Lagarde, Julien and Lin, Wei and Schlesinger, Felix and Xue, Chenghai and Marinov, Georgi K and Khatun, Jainab and Williams, Brian A and Zaleski, Chris and Rozowsky, Joel and Röder, Maik and Kokocinski, Felix and Abdelhamid, Rehab F and Alioto, Tyler and Antoshechkin, Igor and Baer, Michael T and Bar, Nadav S and Batut, Philippe and Bell, Kimberly and Bell, Ian and Chakrabortty, Sudipto and Chen, Xian and Chrast, Jacqueline and Curado, Joao and Derrien, Thomas and Drenkow, Jorg and Dumais, Erica and Dumais, Jacqueline and Duttagupta, Radha and Falconnet, Emilie and Fastuca, Meagan and Fejes-Toth, Kata and Ferreira, Pedro and Foissac, Sylvain and Fullwood, Melissa J and Gao, Hui and Gonzalez, David and Gordon, Assaf and Gunawardena, Harsha and Howald, Cedric and Jha, Sonali and Johnson, Rory and Kapranov, Philipp and King, Brandon and Kingswood, Colin and Luo, Oscar J and Park, Eddie and Persaud, Kimberly and Preall, Jonathan B and Ribeca, Paolo and Risk, Brian and Robyr, Daniel and Sammeth, Michael and Schaffer, Lorian and See, Lei-Hoon and Shahab, Atif and Skancke, Jorgen and Suzuki, Ana Maria and Takahashi, Hazuki and Tilgner, Hagen and Trout, Diane and Walters, Nathalie and Wang, Huaien and Wrobel, John and Yu, Yanbao and Ruan, Xiaoan and Hayashizaki, Yoshihide and Harrow, Jennifer and Gerstein, Mark and Hubbard, Tim and Reymond, Alexandre and Antonarakis, Stylianos E and Hannon, Gregory and Giddings, Morgan C and Ruan, Yijun and Wold, Barbara and Carninci, Piero and Guig, Roderic and Gingeras, Thomas R
Nature (London), ISSN 0028-0836, 09/2012, Volume 489, Issue 7414, pp. 101 - 108
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Transcription. Transcription factor. Splicing. Rna processing | Molecular and cellular biology | Molecular genetics | Cell Line | Repetitive Sequences, Nucleic Acid - genetics | RNA Editing - genetics | Genomics | Humans | Molecular Sequence Annotation | Genes - genetics | Exons - genetics | Gene Expression Profiling | Transcriptome - genetics | DNA, Intergenic - genetics | Genome, Human - genetics | Regulatory Sequences, Nucleic Acid - genetics | Encyclopedias as Topic | RNA - genetics | DNA - genetics | RNA - biosynthesis | Polyadenylation - genetics | Sequence Analysis, RNA | Enhancer Elements, Genetic | RNA Splicing - genetics | Alleles | Transcription, Genetic - genetics | Protein Isoforms - genetics | Proteins | Gene expression | Genomes | Index Medicus | Genètica | Genoma humà | Life Sciences
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2. Full Text Domains of genome-wide gene expression dysregulation in Down's syndrome
by Letourneau, Audrey and Santoni, Federico A and Bonilla, Ximena and Sailani, M. Reza and Gonzalez, David and Kind, Jop and Chevalier, Claire and Thurman, Robert and Sandstrom, Richard S and Hibaoui, Youssef and Garieri, Marco and Popadin, Konstantin and Falconnet, Emilie and Gagnebin, Maryline and Gehrig, Corinne and Vannier, Anne and Guipponi, Michel and Farinelli, Laurent and Robyr, Daniel and Migliavacca, Eugenia and Borel, Christelle and Deutsch, Samuel and Feki, Anis and Stamatoyannopoulos, John A and Herault, Yann and Van Steensel, Bas and Guigo, Roderic and Antonarakis, Stylianos E
Nature (London), ISSN 0028-0836, 2014, Volume 508, Issue 7496, pp. 345 - 350
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Chromatin - metabolism | Down Syndrome - pathology | Twins, Monozygotic - genetics | Chromosomes, Mammalian - genetics | Gene Expression Regulation - genetics | Histones - chemistry | Humans | Cells, Cultured | Genome - genetics | Male | Transcriptome - genetics | Chromosomes, Human, Pair 21 - genetics | Fetus - cytology | Animals | Down Syndrome - genetics | Fibroblasts | DNA Replication Timing | Female | Lysine - metabolism | Mice | Histones - metabolism | Methylation | Chromatin - chemistry | Induced Pluripotent Stem Cells - metabolism | Genetic research | Genetic aspects | Down syndrome | Research | Genetic regulation | Proteins | Studies | Cell culture | Hypotheses | Epigenetics | Genomes | Gene expression | Chromosomes | Experiments | Index Medicus
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3. Full Text Passive and active DNA methylation and the interplay with genetic variation in gene regulation
by Gutierrez-Arcelus, Maria and Lappalainen, Tuuli and Montgomery, Stephen B and Buil, Alfonso and Ongen, Halit and Yurovsky, Alisa and Bryois, Julien and Giger, Thomas and Romano, Luciana and Planchon, Alexandra and Falconnet, Emilie and Bielser, Deborah and Gagnebin, Maryline and Padioleau, Ismael and Borel, Christelle and Letourneau, Audrey and Makrythanasis, Periklis and Guipponi, Michel and Gehrig, Corinne and Antonarakis, Stylianos E and Dermitzakis, Emmanouil T
eLife, ISSN 2050-084X, 06/2013, Volume 2013, Issue 2, pp. e00523 - e00523
Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Transcription Factors - metabolism | DNA Methylation | Humans | Alleles | Cells, Cultured | Gene Expression Regulation | Polymerase Chain Reaction | Infant, Newborn | Transcription factors | Gene regulation | Genomes | Genetic diversity | Gene expression | Studies | Newborn babies | DNA methylation | Fibroblasts | Umbilical cord | Variation | Binding sites | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus
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4. Full Text Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression
by Santoni, Federico A and Stamoulis, Georgios and Garieri, Marco and Falconnet, Emilie and Ribaux, Pascale and Borel, Christelle and Antonarakis, Stylianos E
American journal of human genetics, ISSN 0002-9297, 03/2017, Volume 100, Issue 3, pp. 444 - 453
imprinting | allele-specific expression | single cell | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Models, Theoretical | Cell Line | Genomic Imprinting | Gene Expression | Genetic Association Studies | Humans | Transcriptome | Genotyping Techniques | Sequence Analysis, RNA - methods | Single-Cell Analysis - methods | Alleles | Heterozygote | Fibroblasts - cytology | Polymorphism, Single Nucleotide | Fibroblasts - metabolism | Allelomorphism | Physiological aspects | Nucleotide sequencing | Gene expression | Observations | Methods | DNA sequencing | Binomial distribution | Ribonucleic acid--RNA | Genes | Genomics | Cells | Index Medicus
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5. Full Text Biased Allelic Expression in Human Primary Fibroblast Single Cells
by Borel, Christelle and Ferreira, Pedro G and Santoni, Federico and Delaneau, Olivier and Fort, Alexandre and Popadin, Konstantin Y and Garieri, Marco and Falconnet, Emilie and Ribaux, Pascale and Guipponi, Michel and Padioleau, Ismael and Carninci, Piero and Dermitzakis, Emmanouil T and Antonarakis, Stylianos E
American journal of human genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 70 - 80
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Humans | RNA, Messenger - genetics | DNA, Complementary - genetics | RNA, Messenger - metabolism | Phenotype | Sequence Analysis, RNA | Alleles | Heterozygote | Fibroblasts - cytology | Genome, Human | Single-Cell Analysis | DNA, Complementary - metabolism | Allelomorphism | Cell research | Fibroblasts | Genetic research | Genetic aspects | Research | Gene expression | Health aspects | Genotype & phenotype | Bias | Genomics | Deoxyribonucleic acid--DNA | Cells | Index Medicus
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6. Full Text Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
by Stamoulis, Georgios and Garieri, Marco and Makrythanasis, Periklis and Letourneau, Audrey and Guipponi, Michel and Panousis, Nikolaos and Sloan-Béna, Frédérique and Falconnet, Emilie and Ribaux, Pascale and Borel, Christelle and Santoni, Federico and Antonarakis, Stylianos E
Nature communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 4495 - 11
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Chromosomes, Human, Pair 13 - genetics | Chromosomes, Human, Pair 8 - genetics | Humans | Male | Gene Dosage | Gene Expression Profiling | Transcriptome - genetics | DNA Copy Number Variations | Phenotype | Trisomy - genetics | RNA-Seq | Alleles | Down Syndrome - genetics | Fibroblasts | Female | Mosaicism | Models, Genetic | Chromosomes, Human, Pair 18 - genetics | Single-Cell Analysis | Gene dosage | Trisomy | Genetic variability | Transcription | Copy number | Genes | Gene regulation | Aneuploidy | Stochasticity | Gene expression | Dosage | Index Medicus
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7. Full Text Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations
by Nikolaev, Sergey I and Garieri, Marco and Santoni, Federico and Falconnet, Emilie and Ribaux, Pascale and Guipponi, Michel and Murray, Aoife and Groet, Jürgen and Giarin, Emanuela and Basso, Giuseppe and Nizetic, Dean and Antonarakis, Stylianos E
Nature communications, ISSN 2041-1723, 08/2014, Volume 5, Issue 1, pp. 4654 - 4654
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Down Syndrome - metabolism | Humans | Janus Kinase 2 - genetics | ras Proteins - metabolism | Male | Lymphocytes - cytology | Gene Expression Regulation, Leukemic | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Precursor Cell Lymphoblastic Leukemia-Lymphoma - metabolism | DNA Mutational Analysis | Gene Deletion | Down Syndrome - genetics | Female | Mutation | Child | Receptors, Cytokine - genetics | Chromatin - chemistry | Index Medicus
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8. Full Text Extrachromosomal driver mutations in glioblastoma and low-grade glioma
by Nikolaev, Sergey and Santoni, Federico and Garieri, Marco and Makrythanasis, Periklis and Falconnet, Emilie and Guipponi, Michel and Vannier, Anne and Radovanovic, Ivan and Bena, Frederique and Forestier, Françoise and Schaller, Karl and Dutoit, Valerie and Clement-Schatlo, Virginie and Dietrich, Pierre-Yves and Antonarakis, Stylianos E
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 5690 - 5690
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Glioma - genetics | Genomic Instability | Gene Amplification | Neoplasm Grading | Glioblastoma - genetics | Glioma - pathology | Humans | Brain Neoplasms - pathology | Brain Neoplasms - genetics | DNA, Circular - genetics | Mutation | Index Medicus
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