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Material Type: Artigo
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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaChassaing, N. ; Causse, A. ; Vigouroux, A. ; Delahaye, A. ; Alessandri, J.-L. ; Boespflug-Tanguy, O. ; Boute-Benejean, O. ; Dollfus, H. ; Duban-Bedu, B. ; Gilbert-Dussardier, B. ; Giuliano, F. ; Gonzales, M. ; Holder-Espinasse, M. ; Isidor, B. ; Jacquemont, M.-L. ; Lacombe, D. ; Martin-Coignard, D. ; Mathieu-Dramard, M. ; Odent, S. ; Picone, O. ; Pinson, L. ; Quelin, C. ; Sigaudy, S. ; Toutain, A. ; Thauvin-Robinet, C. ; Kaplan, Josseline ; Calvas, PatrickClinical genetics, 2014-10, Vol.86 (4), p.326-334 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Runx1 is a central regulator of osteogenesis for bone homeostasis by orchestrating BMP and WNT signaling pathwaysTang, Chen-Yi ; Wu, Mengrui ; Zhao, Dongfeng ; Edwards, Diep ; McVicar, Abigail ; Luo, Yuan ; Zhu, Guochun ; Wang, Yongjun ; Zhou, Hou-De ; Chen, Wei ; Li, Yi-Ping LONG, FANXINPLoS genetics, 2021-01, Vol.17 (1), p.e1009233-e1009233 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patientsInoue, Takanobu ; Nakamura, Akie ; Iwahashi-Odano, Megumi ; Tanase-Nakao, Kanako ; Matsubara, Keiko ; Nishioka, Junko ; Maruo, Yoshihiro ; Hasegawa, Yukihiro ; Suzumura, Hiroshi ; Sato, Seiji ; Kobayashi, Yoshiyuki ; Murakami, Nobuyuki ; Nakabayashi, Kazuhiko ; Yamazawa, Kazuki ; Fuke, Tomoko ; Narumi, Satoshi ; Oka, Akira ; Ogata, Tsutomu ; Fukami, Maki ; Kagami, MasayoClinical epigenetics, 2020-06, Vol.12 (1), p.86-86, Article 86 [Periódico revisado por pares]Germany: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease lociLiu, Ying ; Helms, Cynthia ; Liao, Wilson ; Zaba, Lisa C ; Duan, Shenghui ; Gardner, Jennifer ; Wise, Carol ; Miner, Andrew ; Malloy, M J ; Pullinger, Clive R ; Kane, John P ; Saccone, Scott ; Worthington, Jane ; Bruce, Ian ; Kwok, Pui-Yan ; Menter, Alan ; Krueger, James ; Barton, Anne ; Saccone, Nancy L ; Bowcock, Anne M Leal, Suzanne M.PLoS genetics, 2008-04, Vol.4 (3), p.e1000041-e1000041 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Bacterial genes in the aphid genome: absence of functional gene transfer from Buchnera to its hostNikoh, Naruo ; McCutcheon, John P ; Kudo, Toshiaki ; Miyagishima, Shin-ya ; Moran, Nancy A ; Nakabachi, Atsushi Copenhaver, Gregory P.PLoS genetics, 2010-02, Vol.6 (2), p.e1000827-e1000827 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune functionShadrina, Alexandra S ; Zlobin, Alexander S ; Zaytseva, Olga O ; Klarić, Lucija ; Sharapov, Sodbo Z ; D Pakhomov, Eugene ; Perola, Marcus ; Esko, Tonu ; Hayward, Caroline ; Wilson, James F ; Lauc, Gordan ; Aulchenko, Yurii S ; Tsepilov, Yakov AHuman molecular genetics, 2021-06, Vol.30 (13), p.1259-1270 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Conjugative DNA transfer induces the bacterial SOS response and promotes antibiotic resistance development through integron activationBaharoglu, Zeynep ; Bikard, David ; Mazel, Didier Matic, IvanPLoS genetics, 2010-10, Vol.6 (10), p.e1001165 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Cytoplasmic p27 promotes epithelial-mesenchymal transition and tumor metastasis via STAT3-mediated Twist1 upregulationZhao, D ; Besser, A H ; Wander, S A ; Sun, J ; Zhou, W ; Wang, B ; Ince, T ; Durante, M A ; Guo, W ; Mills, G ; Theodorescu, D ; Slingerland, JOncogene, 2015-10, Vol.34 (43), p.5447-5459 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Heterochromatin formation promotes longevity and represses ribosomal RNA synthesisLarson, Kimberly ; Yan, Shian-Jang ; Tsurumi, Amy ; Liu, Jacqueline ; Zhou, Jun ; Gaur, Kriti ; Guo, Dongdong ; Eickbush, Thomas H ; Li, Willis X Kim, Stuart K.PLoS genetics, 2012-01, Vol.8 (1), p.e1002473-e1002473 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Genome instability and transcription elongation impairment in human cells depleted of THO/TREXDomínguez-Sánchez, María S ; Barroso, Sonia ; Gómez-González, Belén ; Luna, Rosa ; Aguilera, Andrés Pearson, Christopher E.PLoS genetics, 2011-12, Vol.7 (12), p.e1002386-e1002386 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |