Search Results - "Smith, H. J."

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss by Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ranum, Paul T., Weaver, Amy E., Black-Ziegelbein, E. Ann, Wang, Donghong, Azaiez, Hela, Smith, Richard J. H.

“…Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has…”
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Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome by FENGXIAO BU, MAGA, Tara, MEYER, Nicole C, KAI WANG, THOMAS, Christie P, NESTER, Carla M, SMITH, Richard J. H

“…Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy caused by uncontrolled activation of the alternative pathway of complement at the…”
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C3 glomerulopathy — understanding a rare complement-driven renal disease by Smith, Richard J. H., Appel, Gerald B., Blom, Anna M., Cook, H. Terence, D’Agati, Vivette D, Fakhouri, Fadi, Fremeaux-Bacchi, Véronique, Józsi, Mihály, Kavanagh, David, Lambris, John D., Noris, Marina, Pickering, Matthew C., Remuzzi, Giuseppe, de Córdoba, Santiago Rodriguez, Sethi, Sanjeev, Van der Vlag, Johan, Zipfel, Peter F., Nester, Carla M.

“…The C3 glomerulopathies are a group of rare kidney diseases characterized by complement dysregulation occurring in the fluid phase and in the glomerular…”
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Microbial formation of labile organic carbon in Antarctic glacial environments by Smith, H. J., Foster, R. A., McKnight, D. M., Lisle, J. T., Littmann, S., Kuypers, M. M. M., Foreman, C. M.

“…Roughly six petagrams of organic carbon are stored within ice worldwide. This organic carbon is thought to be of old age and highly bioavailable. Along with…”
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The hearing-impaired patient: what the future holds by Smith, Richard J. H.

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Neoadjuvant chemotherapy in breast cancer-response evaluation and prediction of response to treatment using dynamic contrast-enhanced and diffusion-weighted MR imaging by Fangberget, A., Nilsen, L. B., Hole, K. H., Holmen, M. M., Engebraaten, O., Naume, B., Smith, H.-J., Olsen, D. R., Seierstad, T.

“…Objective To explore the predictive value of MRI parameters and tumour characteristics before neoadjuvant chemotherapy (NAC) and to compare changes in tumour…”
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Relationship between dissolved organic matter quality and microbial community composition across polar glacial environments by Smith, H J, Dieser, M, McKnight, D M, SanClements, M D, Foreman, C M

“…Vast expanses of Earth's surface are covered by ice, with microorganisms in these systems affecting local and global biogeochemical cycles. We examined…”
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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing by Shearer, A. Eliot, DeLuca, Adam P., Hildebrand, Michael S., Taylor, Kyle R., Gurrola, José, Scherer, Steve, Scheetz, Todd E., Smith, Richard J. H., King, Mary-Claire

“…The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic diagnosis expensive and time consuming using available methods. To assess…”
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Thematic accuracy of the NLCD 2001 land cover for the conterminous United States by Wickham, J.D., Stehman, S.V., Fry, J.A., Smith, J.H., Homer, C.G.

“…The land-cover thematic accuracy of NLCD 2001 was assessed from a probability-sample of 15,000 pixels. Nationwide, NLCD 2001 overall Anderson Level II and…”
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Body plethysmography – Its principles and clinical use by Criée, C.P, Sorichter, S, Smith, H.J, Kardos, P, Merget, R, Heise, D, Berdel, D, Köhler, D, Magnussen, H, Marek, W, Mitfessel, H, Rasche, K, Rolke, M, Worth, H, Jörres, R.A

“…Summary Body plethysmography allows to assess functional residual capacity ( FRCpleth ) and specific airway resistance ( sRaw ) as primary measures. In…”
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Foxn1 regulates lineage progression in cortical and medullary thymic epithelial cells but is dispensable for medullary sublineage divergence by Nowell, Craig S, Bredenkamp, Nicholas, Tetélin, Stéphanie, Jin, Xin, Tischner, Christin, Vaidya, Harsh, Sheridan, Julie M, Stenhouse, Frances Hogg, Heussen, Raphaela, Smith, Andrew J H, Blackburn, C Clare

“…The forkhead transcription factor Foxn1 is indispensable for thymus development, but the mechanisms by which it mediates thymic epithelial cell (TEC)…”
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Seeing shapes in seemingly random spatial patterns: Fractal analysis of Rorschach inkblots by Taylor, R P, Martin, T P, Montgomery, R D, Smith, J H, Micolich, A P, Boydston, C, Scannell, B C, Fairbanks, M S, Spehar, B

“…Rorschach inkblots have had a striking impact on the worlds of art and science because of the remarkable variety of associations with recognizable and namable…”
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Improving implementation of health promotion interventions for maternal and newborn health by Smith, H J, Portela, A G, Marston, C

“…The recommendations can be grouped into different categories according to the strength of the recommendation as determined by an expert group and the…”
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A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse by Nakano, Yoko, Jahan, Israt, Bonde, Gregory, Sun, Xingshen, Hildebrand, Michael S, Engelhardt, John F, Smith, Richard J H, Cornell, Robert A, Fritzsch, Bernd, Bánfi, Botond

“…Sensory hair cells are essential for hearing and balance. Their development from epithelial precursors has been extensively characterized with respect to…”
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On-microscope staging of live cells reveals changes in the dynamics of transcriptional bursting during differentiation by Jeziorska, D. M., Tunnacliffe, E. A. J., Brown, J. M., Ayyub, H., Sloane-Stanley, J., Sharpe, J. A., Lagerholm, B. C., Babbs, C., Smith, A. J. H., Buckle, V. J., Higgs, D. R.

“…Determining the mechanisms by which genes are switched on and off during development is a key aim of current biomedical research. Gene transcription has been…”
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Gene therapy for hearing loss by Omichi, Ryotaro, Shibata, Seiji B, Morton, Cynthia C, Smith, Richard J H

“…Abstract Sensorineural hearing loss (SNHL) is the most common sensory disorder. Its underlying etiologies include a broad spectrum of genetic and environmental…”
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Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease) by Abrera-Abeleda, M A, Nishimura, C, Smith, J L H, Sethi, S, McRae, J L, Murphy, B F, Silvestri, G, Skerka, C, Józsi, M, Zipfel, P F, Hageman, G S, Smith, R J H

“…Introduction: Membranoproliferative glomerulonephritis type II or dense deposit disease (MPGN II/DDD) causes chronic renal dysfunction that progresses to end…”
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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach by Yan, Denise, Xiang, Guangxin, Chai, Xingping, Qing, Jie, Shang, Haiqiong, Zou, Bing, Mittal, Rahul, Shen, Jun, Smith, Richard J H, Fan, Yao-Shan, Blanton, Susan H, Tekin, Mustafa, Morton, Cynthia, Xing, Wanli, Cheng, Jing, Liu, Xue Zhong

“…The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups…”
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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice by Azaiez, Hela, Decker, Amanda R, Booth, Kevin T, Simpson, Allen C, Shearer, A Eliot, Huygen, Patrick L M, Bu, Fengxiao, Hildebrand, Michael S, Ranum, Paul T, Shibata, Seiji B, Turner, Ann, Zhang, Yuzhou, Kimberling, William J, Cornell, Robert A, Smith, Richard J H

“…Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of…”
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Efficacy and safety of OK-432 immunotherapy of lymphatic malformations by Smith, Mark C., Zimmerman, M. Bridget, Burke, Diane K., Bauman, Nancy M., Sato, Yutaka, Smith, Richard J. H.

“…Objectives: To determine the efficacy and safety of the immunostimulant OK‐432 (Picibanil) as a treatment option in the management of children with…”
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