Search Results - "phenotyping"

Upregulation of the transcription factor TFAP2D is associated with aggressive tumor phenotype in prostate cancer lacking the TMPRSS2:ERG fusion by Christoph Fraune, Luisa Harms, Franziska Büscheck, Doris Höflmayer, Maria Christina Tsourlakis, Till S. Clauditz, Ronald Simon, Katharina Möller, Andreas M. Luebke, Christina Möller-Koop, Stefan Steurer, Claudia Hube-Magg, Guido Sauter, Sören Weidemann, Patrick Lebok, David Dum, Simon Kind, Sarah Minner, Jakob R. Izbicki, Thorsten Schlomm, Hartwig Huland, Hans Heinzer, Eike Burandt, Alexander Haese, Markus Graefen, Cornelia Schroeder

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Neuroendocrine and squamous cell phenotypes of NUT carcinoma are potential diagnostic pitfalls that discriminating it from mimickers, such as small cell and squamous cell carcinoma by Hironori Ninomiya, Yukiko Sato, Kentaro Inamura, Akito Dobashi, Kengo Takeuchi, Hiroki Mitani, Mingyon Mun, Makoto Nishio, Yuichi Ishikawa

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Multi-Trait Body Shape Phenotypes and Breast Cancer Risk in Postmenopausal Women: A Causal Mediation Analysis in the UK Biobank Cohort by Amina Amadou, Heinz Freisling, Anja M. Sedlmeier, Patricia Bohmann, Emma Fontvieille, Andrea Weber, Julian Konzok, Michael J. Stein, Laia Peruchet-Noray, Anna Jansana, Hwayoung Noh, Mathilde His, Quan Gan, Hansjörg Baurecht, Béatrice Fervers

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Neonatal hair profiling reveals a metabolic phenotype of monochorionic twins with selective intrauterine growth restriction and abnormal umbilical artery flow by Jing Yang, Yuan Wei, Hongbo Qi, Nanlin Yin, Yang Yang, Zailing Li, Lili Xu, Xueju Wang, Pengbo Yuan, Luyao Li, Ting-Li Han, Yangyu Zhao

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Dalbavancin, Vancomycin and Daptomycin Alone and in Combination with Cefazolin against Resistant Phenotypes of <i>Staphylococcus aureus</i> in a Pharmacokinetic/Pharmacodynamic Model by Jacinda C. Abdul-Mutakabbir, Razieh Kebriaei, Kyle C. Stamper, Zain Sheikh, Philip T. Maassen, Katherine L. Lev, Michael J. Rybak

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MicroRNA-134-5p Regulates Media Degeneration through Inhibiting VSMC Phenotypic Switch and Migration in Thoracic Aortic Dissection by Ying Wang, Chang-Qing Dong, Guang-Yin Peng, Hao-yue Huang, Yun-sheng Yu, Zhen-Chun Ji, Zhen-Ya Shen

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Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature by Sarah Abdullah, William Reginold, Courtney Kiss, Karen J. Harrison, Jennifer J. MacKenzie

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Association of a <it>de novo </it>16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes by Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, Biesecker Leslie G

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Use of supplementary phenotype to identify additional rheumatoid arthritis loci in a linkage analysis of 342 UK affected sibling pair families by Trevisan Maurizio, Miller Austin, Kelemen Arpad, Liang Yulan, Tayo Bamidele O, Cooper Richard S

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Genome-wide association study of phenotypes measuring progression from first cocaine or opioid use to dependence reveals novel risk genes by Richard Sherva, Congcong Zhu, Leah Wetherill, Howard J. Edenberg, Emma Johnson, Louisa Degenhardt, Arpana Agrawal, Nicholas G. Martin, Elliot Nelson, Henry R. Kranzler, Joel Gelernter, Lindsay A. Farrer

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Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene by Imad Dweikat, Othman Thaher, Abdulrahman Abosleem, Almotazbellah Zeer, Ameer Abo Mokh

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OLMALINC/OCT4/BMP2 axis enhances osteogenic-like phenotype of renal interstitial fibroblasts to participate in Randall's plaque formation by Zewu Zhu, Fang Huang, Yingcheng Jiang, Shuhao Ruan, Minghui Liu, Youjie Zhang, Yongchao Li, Jinbo Chen, Yu Cui, Zhiyong Chen, Hequn Chen, Feng Zeng

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Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review by Ying Li, Chuangwen Zhang, Hongyu Zhang, Weiqi Feng, Qiuji Wang, Ruixin Fan

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Phenotype and functionality of CD8+ T cells before and after cART are related to the viral reservoir size in people living with HIV-1 by A. Czernikier, J. Salido, C. Trifone, M.I. Figueroa, H. Salomón, P. Cahn, O. Sued, N. Laufer, Y. Ghiglione, G. Turk

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Absence of mutations in <it>NR2E1 </it>and <it>SNX3 </it>in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes by Simpson Elizabeth M, Schwartz Charles E, Slavotinek Anne, Morgan Chad T, Everman David B, Kumar Ravinesh A

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Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report by Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio

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Ceftazidime-Avibactam plus aztreonam synergistic combination tested against carbapenem-resistant Enterobacterales characterized phenotypically and genotypically: a glimmer of hope by Rawan Taha, Ola Kader, Sherine Shawky, Shahinda Rezk

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Constructing High-Fidelity Phenotype Knowledge Graphs for Infectious Diseases With a Fine-Grained Semantic Information Model: Development and Usability Study by Lizong Deng, Luming Chen, Tao Yang, Mi Liu, Shicheng Li, Taijiao Jiang

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Identifying Behavioral Phenotypes of Loneliness and Social Isolation with Passive Sensing: Statistical Analysis, Data Mining and Machine Learning of Smartphone and Fitbit Data by Doryab, Afsaneh, Villalba, Daniella K, Chikersal, Prerna, Dutcher, Janine M, Tumminia, Michael, Liu, Xinwen, Cohen, Sheldon, Creswell, Kasey, Mankoff, Jennifer, Creswell, John D, Dey, Anind K

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Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review by Özge Köprülü, Sezer Acar, Kadri Murat Erdoğan, Özlem Nalbantoğlu, Tarık Kırkgöz, Gülçin Arslan, Beyhan Özkaya, Yaşar Bekir Kutbay, Behzat Özkan

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