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Human Reproduction, ISSN 0268-1161, 07/2019, Volume 34, Issue 8, pp. 1404 - 1415
STUDY QUESTIONWhat effect does cancer treatment have on levels of spontaneous selfish fibroblast growth factor receptor 2 (FGFR2) point mutations in human... 
Index Medicus | Andrology | cancer treatment | Apert syndrome | spermatogonial stem cells | radiation therapy | de novo mutations | mutation rate | recovery of fertility | Original | chemotherapy
Journal Article
Bioinformatics, ISSN 1367-4803, 07/2019
SUMMARYamplimap is a command-line tool to automate the processing and analysis of data from targeted next-generation sequencing (NGS) experiments with... 
Index Medicus
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2009, Volume 119, Issue 9, pp. 2550 - 2563
Uncontrolled activation of the coagulation cascade contributes to the pathophysiology of several conditions, including acute and chronic lung diseases.... 
MEDICINE, RESEARCH & EXPERIMENTAL | GROWTH-FACTOR-BETA | BLOOD-COAGULATION | THROMBUS FORMATION | GENE-EXPRESSION | IDIOPATHIC PULMONARY-FIBROSIS | PROTEASE-ACTIVATED RECEPTOR-1 | TISSUE FACTOR EXPRESSION | SUSCEPTIBILITY GENES | RESPIRATORY-DISTRESS-SYNDROME | BRONCHOALVEOLAR LAVAGE | Up-Regulation | Lung Injury - pathology | Factor Xa Inhibitors | Receptor, PAR-1 - metabolism | Humans | Middle Aged | Actins - metabolism | Male | Pulmonary Fibrosis - blood | Idiopathic Pulmonary Fibrosis - blood | RNA, Messenger - metabolism | Case-Control Studies | Idiopathic Pulmonary Fibrosis - metabolism | Idiopathic Pulmonary Fibrosis - etiology | Base Sequence | Lung Injury - metabolism | Adult | Female | Cell Differentiation | Pulmonary Fibrosis - metabolism | Receptors, Vitronectin - metabolism | Pulmonary Fibrosis - etiology | Bleomycin - toxicity | Fibroblasts - metabolism | Gene Expression | Factor Xa - genetics | Mice, Inbred C57BL | RNA, Messenger - genetics | Cells, Cultured | Pulmonary Fibrosis - pathology | Fibroblasts - pathology | Factor Xa - metabolism | Animals | Transforming Growth Factor beta - genetics | Models, Biological | Fibroblasts - drug effects | Idiopathic Pulmonary Fibrosis - pathology | Aged | Mice | Transforming Growth Factor beta - metabolism | Transforming growth factors | Lung diseases | Integrins | Index Medicus | Abridged Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019
To demonstrate the utility of an amplification-free long-read sequencing method to characterize the Fuchs endothelial corneal dystrophy (FECD)-associated... 
somatic mosaicism | amplification-free sequencing | Fuchs endothelial corneal dystrophy | triplet repeat-mediated disease | no-amp targeted sequencing
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2016, Volume 113, Issue 9, pp. 2454 - 2459
Journal Article
ISSN 1088-9051, 2018
Mosaic mutations present in the germline have important implications for reproductive risk and disease transmission. We previously demonstrated a phenomenon... 
Journal Article
by Suzuki, Harukazu and Forrest, Alistair R. R and Van Nimwegen, Erik and Daub, Carsten O and Balwierz, Piotr J and Irvine, Katharine M and Lassmann, Timo and Ravasi, Timothy and Hasegawa, Yuki and De Hoon, Michiel J. L and Katayama, Shintaro and Schroder, Kate and Carninci, Piero and Tomaru, Yasuhiro and Kanamori-Katayama, Mutsumi and Kubosaki, Atsutaka and Akalin, Altuna and Ando, Yoshinari and Arner, Erik and Asada, Maki and Asahara, Hiroshi and Bailey, Timothy and Bajic, Vladimir B and Bauer, Denis and Beckhouse, Anthony G and Bertin, Nicolas and Björkegren, Johan and Brombacher, Frank and Bulger, Erika and Chalk, Alistair M and Chiba, Joe and Cloonan, Nicole and Dawe, Adam and Dostie, Josee and Engström, Pär G and Essack, Magbubah and Faulkner, Geoffrey J and Fink, J Lynn and Fredman, David and Fujimori, Ko and Furuno, Masaaki and Gojobori, Takashi and Gough, Julian and Grimmond, Sean M and Gustafsson, Mika and Hashimoto, Megumi and Hashimoto, Takehiro and Hatakeyama, Mariko and Heinzel, Susanne and Hide, Winston and Hofmann, Oliver and Hörnquist, Michael and Huminiecki, Lukasz and Ikeo, Kazuho and Imamoto, Naoko and Inoue, Satoshi and Inoue, Yusuke and Ishihara, Ryoko and Iwayanagi, Takao and Jacobsen, Anders and Kaur, Mandeep and Kawaji, Hideya and Kerr, Markus C and Kimura, Ryuichiro and Kimura, Syuhei and Kimura, Yasumasa and Kitano, Hiroaki and Koga, Hisashi and Kojima, Toshio and Kondo, Shinji and Konno, Takeshi and Krogh, Anders and Kruger, Adele and Kumar, Ajit and Lenhard, Boris and Lennartsson, Andreas and Lindow, Morten and Lizio, Marina and MacPherson, Cameron and Maeda, Norihiro and Maher, Christopher A and Maqungo, Monique and Mar, Jessica and Matigian, Nicholas A and Matsuda, Hideo and Mattick, John S and Meier, Stuart and Miyamoto, Sei and Miyamoto-Sato, Etsuko and Nakabayashi, Kazuhiko and Nakachi, Yutaka and Nakano, Mika and Nygaard, Sanne and Okayama, Toshitsugu and Okazaki, Yasushi and Okuda-Yabukami, Haruka and Orlando, Valerio and Otomo, Jun and Pachkov, Mikhail and Petrovsky, Nikolai and ... and Riken Omics Sci Ctr and FANTOM Consortium and Riken Omics Science Center and The FANTOM Consortium and Institutionen för teknik och naturvetenskap and Institutionen för fysik, kemi och biologi and Biologiska Beräkningar and Linköpings universitet and Tekniska högskolan
Nature Genetics, ISSN 1061-4036, 05/2009, Volume 41, Issue 5, pp. 553 - 562
Journal Article
Genome Research, ISSN 1088-9051, 12/2018, Volume 28, Issue 12, pp. 1779 - 1790
Mosaic mutations present in the germline have important implications for reproductive risk and disease transmission. We previously demonstrated a phenomenon... 
NOONAN SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | FGFR2 MUTATIONS | SPERMATOGONIAL SELECTION | SOMATIC MUTATIONS | DE-NOVO MUTATIONS | POSITIVE SELECTION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CLONAL HEMATOPOIESIS | GENETICS & HEREDITY | PATERNAL AGE | ONCOGENIC MUTATIONS | MOSAICISM | Research
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 581 - 592
Journal Article