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by Stefansson, Hreinn and Ophoff, Roel A and Steinberg, Stacy and Andreassen, Ole A and Cichon, Sven and Rujescu, Dan and Werge, Thomas and Pietiläinen, Olli P. H and Mors, Ole and Mortensen, Preben B and Sigurdsson, Engilbert and Gustafsson, Omar and Nyegaard, Mette and Tuulio-Henriksson, Annamari and Ingason, Andres and Hansen, Thomas and Suvisaari, Jaana and Lonnqvist, Jouko and Paunio, Tiina and Børglum, Anders D and Hartmann, Annette and Fink-Jensen, Anders and Nordentoft, Merete and Hougaard, David and Norgaard-Pedersen, Bent and Böttcher, Yvonne and Olesen, Jes and Breuer, René and Möller, Hans-Jürgen and Giegling, Ina and Rasmussen, Henrik B and Timm, Sally and Mattheisen, Manuel and Bitter, István and Réthelyi, János M and Magnusdottir, Brynja B and Sigmundsson, Thordur and Olason, Pall and Masson, Gisli and Gulcher, Jeffrey R and Haraldsson, Magnus and Fossdal, Ragnheidur and Thorgeirsson, Thorgeir E and Thorsteinsdottir, Unnur and Ruggeri, Mirella and Tosato, Sarah and Franke, Barbara and Strengman, Eric and Kiemeney, Lambertus A and Melle, Ingrid and Djurovic, Srdjan and Abramova, Lilia and Kaleda, Vasily and Sanjuan, Julio and de Frutos, Rosa and Bramon, Elvira and Vassos, Evangelos and Fraser, Gillian and Ettinger, Ulrich and Picchioni, Marco and Walker, Nicholas and Toulopoulou, Timi and Need, Anna C and Ge, Dongliang and Lim Yoon, Joeng and Shianna, Kevin V and Freimer, Nelson B and Cantor, Rita M and Murray, Robin and Kong, Augustine and Golimbet, Vera and Carracedo, Angel and Arango, Celso and Costas, Javier and Jönsson, Erik G and Terenius, Lars and Agartz, Ingrid and Petursson, Hannes and Nöthen, Markus M and Rietschel, Marcella and Matthews, Paul M and Muglia, Pierandrea and Peltonen, Leena and St Clair, David and Goldstein, David B and Stefansson, Kari and Collier, David A and Genetic Risk and Outcome in Psychosis (GROUP) and GROUP
Nature (London), ISSN 1476-4687, 2009, Volume 460, Issue 7256, pp. 744 - 747
Journal Article
Neurology, ISSN 1526-632X, 2013, Volume 80, Issue 23, pp. 2154 - 2165
Journal Article
British journal of haematology, ISSN 1365-2141, 2019, Volume 185, Issue 3, pp. 450 - 467
Summary The Myeloma X trial (ISCRTN60123120) registered patients with relapsed multiple myeloma. Participants were randomised between salvage autologous stem... 
duration of response | overall survival | relapsed multiple myeloma | cytogenetics | salvage ASCT | DEXAMETHASONE | THERAPY | DISEASE | LENALIDOMIDE | FISH | OUTCOMES | STEM-CELL TRANSPLANTATION | HEMATOLOGY | ASSOCIATION | Sequence Deletion | Translocation, Genetic | Follow-Up Studies | Multiple Myeloma - mortality | Humans | Middle Aged | Salvage Therapy | Male | Transplantation, Autologous | Chromosomes, Human, Pair 4 - genetics | Chromosomes, Human, Pair 17 - genetics | Chromosomes, Human, Pair 17 - ultrastructure | Cyclophosphamide - therapeutic use | Multiple Myeloma - drug therapy | Multiple Myeloma - therapy | Clinical Trials, Phase III as Topic - statistics & numerical data | Female | Chromosomes, Human, Pair 4 - ultrastructure | Chromosomes, Human, Pair 16 - ultrastructure | Chromosomes, Human, Pair 16 - genetics | Multicenter Studies as Topic - statistics & numerical data | Randomized Controlled Trials as Topic - statistics & numerical data | Kaplan-Meier Estimate | Proportional Hazards Models | Hematopoietic Stem Cell Transplantation | In Situ Hybridization, Fluorescence | Combined Modality Therapy | Antineoplastic Agents, Alkylating - therapeutic use | Disease-Free Survival | Aged | Chromosomes, Human, Pair 14 - ultrastructure | Chromosomes, Human, Pair 14 - genetics | Multiple Myeloma - genetics | Care and treatment | Relapse | Patient outcomes | Analysis | Multiple myeloma | Stem cells | Clinical trials | Cytogenetics | Genetic aspects | Diseases | Cancer | Autografts | Stem cell transplantation | Likelihood ratio | Risk | Transplantation | Myc protein | Survival | Patients | Confidence intervals | Cyclophosphamide | Randomization | Salvage | Haematological Malignancy | Research Paper
Journal Article
Genes and Immunity, ISSN 1466-4879, 09/2009, Volume 10, Issue 6, pp. 559 - 565
Sex differences in asthma-associated phenotypes are well known but the genetic factors that may account for these differences have received little attention.... 
BRONCHIAL HYPERRESPONSIVENESS | QUANTITATIVE TRAITS | sex | ASTHMA-RELATED PHENOTYPES | asthma | GENETIC ARCHITECTURE | PLEIOTROPIC QTL | IMMUNOLOGY | pleiotropy | multivariate analysis | heterogeneity | SUSCEPTIBILITY GENES | GENETICS & HEREDITY | family-based association | LINKAGE ANALYSIS | FRENCH EGEA FAMILIES | GENDER-DIFFERENCES | ATOPY | Forced Expiratory Volume - genetics | Cell Count | Humans | Male | Chromosomes, Human, Pair 4 - genetics | Immunoglobulin E - blood | Chromosomes, Human, Pair 22 - genetics | Bronchial Hyperreactivity | Asthma - blood | Female | Eosinophils - pathology | Child | Microsatellite Repeats | Genetic Linkage | Genome-Wide Association Study | Genotype | Chromosome Mapping | Chromosomes, Human, Pair 11 - genetics | Lung - physiology | Asthma - genetics | Phenotype | Interleukin-9 - genetics | Adolescent | Sex Factors | Polymorphism, Single Nucleotide - genetics | Respiratory Function Tests | Genome, Human | Quantitative Trait Loci | Lungs | Physiological aspects | Genetic aspects | Research | Single nucleotide polymorphisms | Risk factors | Asthma | Lung | Immunoglobulin E | Interleukin-9 | Forced Expiratory Volume | Life Sciences | Chromosomes, Human, Pair 22 | Chromosomes, Human, Pair 4 | Santé publique et épidémiologie | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 11 | Eosinophils
Journal Article
Nature communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 368 - 13
.... Here we report on recurrent rearrangements [t(4;9)(q13;q31)] in AciCC that translocate active enhancer regions from the SCPP gene cluster to the region upstream of Nuclear Receptor Subfamily 4 Group A Member 3 (NR4A3) at 9q31... 
HEAD | FUSION | GENE | ALIGNMENT | NOR1 | MULTIDISCIPLINARY SCIENCES | MYB | EXPRESSION | CANCER | TUMORS | ORPHAN NUCLEAR RECEPTOR | Chromatin - metabolism | Translocation, Genetic | Multigene Family | Salivary Glands - pathology | Salivary Proteins and Peptides - genetics | Cell Proliferation | Receptors, Steroid - metabolism | Salivary Gland Neoplasms - genetics | Epigenesis, Genetic | Humans | Carcinoma, Acinar Cell - pathology | Gene Expression Regulation, Neoplastic | Male | Genetic Loci | DNA-Binding Proteins - metabolism | Carcinoma, Acinar Cell - metabolism | Receptors, Thyroid Hormone - genetics | Salivary Gland Neoplasms - metabolism | Female | Chromatin - chemistry | Acinar Cells - metabolism | Carcinoma, Acinar Cell - genetics | DNA-Binding Proteins - genetics | Salivary Proteins and Peptides - metabolism | Chromosomes, Human, Pair 4 - metabolism | Chromosomes, Human, Pair 9 - metabolism | Receptors, Thyroid Hormone - metabolism | Chromosomes, Human, Pair 4 - chemistry | Acinar Cells - pathology | Animals | Enhancer Elements, Genetic | Receptors, Steroid - genetics | Chromosomes, Human, Pair 9 - chemistry | Mice | Primary Cell Culture | Salivary Gland Neoplasms - pathology | Salivary Glands - metabolism | Cohort Studies | Binding | Cell proliferation | Chromatin | Transcription factors | Carcinoma | Salivary glands | Pathogenesis | Salivary gland | Chromosome 4 | Gene expression | Phosphoproteins | Clusters | Saliva
Journal Article
Haematologica, ISSN 0390-6078, 04/2013, Volume 98, Issue 4, pp. 649 - 654
Journal Article
by Majounie, Elisa and Renton, Alan E and Mok, Kin and Dopper, Elise GP and Waite, Adrian and Rollinson, Sara and Chiò, Adriano and Restagno, Gabriella and Nicolaou, Nayia and Simon-Sanchez, Javier and van Swieten, John C and Abramzon, Yevgeniya and Johnson, Janel O and Sendtner, Michael and Pamphlett, Roger and Orrell, Richard W and Mead, Simon and Sidle, Katie C and Houlden, Henry and Rohrer, Jonathan D and Morrison, Karen E and Pall, Hardev and Talbot, Kevin and Ansorge, Olaf and Hernandez, Dena G and Arepalli, Sampath and Sabatelli, Mario and Mora, Gabriele and Corbo, Massimo and Giannini, Fabio and Calvo, Andrea and Englund, Elisabet and Borghero, Giuseppe and Floris, Gian Luca and Remes, Anne M and Laaksovirta, Hannu and McCluskey, Leo and Trojanowski, John Q and Van Deerlin, Vivianna M and Schellenberg, Gerard D and Nalls, Michael A and Drory, Vivian E and Lu, Chin-Song and Yeh, Tu-Hsueh and Ishiura, Hiroyuki and Takahashi, Yuji and Tsuji, Shoji and Le Ber, Isabelle and Brice, Alexis and Drepper, Carsten and Williams, Nigel and Kirby, Janine and Shaw, Pamela and Hardy, John and Tienari, Pentti J and Heutink, Peter and Morris, Huw R and Pickering-Brown, Stuart and Traynor, Bryan J and The Chromosome 9-ALS/FTD Consortium and The ITALSGEN Consortium and The French research network on FTLD/FTLD/ALS and Chromosome 9-ALS FTD Consortium and French Res Network FTLD FTLD ALS and ITALSGEN Consortium and French research network on FTLD/FTLD/ALS and Chromosome 9-ALS/FTD Consortium
Lancet neurology, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large... 
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article