Search Results - "Smith, Richard H"

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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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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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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The hearing-impaired patient: what the future holds by Smith, Richard J. H.

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Baculovirus: an Insect-derived Vector for Diverse Gene Transfer Applications by Airenne, Kari J, Hu, Yu-Chen, Kost, Thomas A, Smith, Richard H, Kotin, Robert M, Ono, Chikako, Matsuura, Yoshiharu, Wang, Shu, Ylä-Herttuala, Seppo

“…Insect-derived baculoviruses have emerged as versatile and safe workhorses of biotechnology. Baculovirus expression vectors (BEVs) have been applied widely for…”
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Force Field X: A computational microscope to study genetic variation and organic crystals using theory and experiment by Gogal, Rose A, Nessler, Aaron J, Thiel, Andrew C, Bernabe, Hernan V, Corrigan Grove, Rae A, Cousineau, Leah M, Litman, Jacob M, Miller, Jacob M, Qi, Guowei, Speranza, Matthew J, Tollefson, Mallory R, Fenn, Timothy D, Michaelson, Jacob J, Okada, Okimasa, Piquemal, Jean-Philip, Ponder, Jay W, Shen, Jana, Smith, Richard J H, Yang, Wei, Ren, Pengyu, Schnieders, Michael J

“…Force Field X (FFX) is an open-source software package for atomic resolution modeling of genetic variants and organic crystals that leverages advanced…”
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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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Proliferative Glomerulonephritis Secondary to Dysfunction of the Alternative Pathway of Complement by Sethi, Sanjeev, Fervenza, Fernando C, Zhang, Yuzhou, Nasr, Samih H, Leung, Nelson, Vrana, Julie, Cramer, Carl, Nester, Carla M, Smith, Richard J H

“…dense deposit disease (DDD) is the prototypical membranoproliferative glomerulonephritis (MPGN), in which fluid-phase dysregulation of the alternative pathway…”
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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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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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Advances in subcutaneous injections: PRECISE II: a study of safety and subject preference for an innovative needle-free injection system by Kelley, E. Lynne, Smith, Richard H., Corcoran, Gillian, Nygren, Sandra, Jacoski, Mary V., Fernandes, Andrea

“…Needle-free injection is a desirable goal for many reasons, including reducing pain, anxiety, and eliminating safety risks associated with needle-stick…”
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Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct ( DFNB4) by Yang, Tao, Vidarsson, Hilmar, Rodrigo-Blomqvist, Sandra, Rosengren, Sally S., Enerbäck, Sven, Smith, Richard J.H.

“…Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss…”
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C3 glomerulonephritis with a severe crescentic phenotype by Ravindran, Aishwarya, Fervenza, Fernando C., Smith, Richard J. H., Sethi, Sanjeev

“…Background C3 glomerulopathy (C3G) is rare type of glomerulonephritis resulting from the glomerular deposition of C3 due to dysregulation of the alternative…”
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Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome by Yang, Tao, Gurrola, Jose G., Wu, Hao, Chiu, Sui M., Wangemann, Philine, Snyder, Peter M., Smith, Richard J.H.

“…Mutations in SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct (EVA, also known as DFNB4) and Pendred syndrome (PS), the…”
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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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Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein by Avenarius, Matthew R., Hildebrand, Michael S., Zhang, Yuzhou, Meyer, Nicole C., Smith, Luke L.H., Kahrizi, Kimia, Najmabadi, Hossein, Smith, Richard J.H.

“…Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty affecting 15% of couples. Heritable forms of nonsyndromic…”
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CFTR-deficient pigs display peripheral nervous system defects at birth by Reznikov, Leah R., Dong, Qian, Chen, Jeng-Haur, Moninger, Thomas O., Park, Jung Min, Zhang, Yuzhou, Du, Jianyang, Hildebrand, Michael S., Smith, Richard J. H., Randak, Christoph O., Stoltz, David A., Welsh, Michael J.

“…Peripheral nervous system abnormalities, including neuropathy, have been reported in people with cystic fibrosis. These abnormalities have largely been…”
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Reducing Spread of Infections with a Photocatalytic Reactor—Potential Applications in Control of Hospital Staphylococcus aureus and Clostridioides difficile Infections and Inactivation of RNA Viruses by Gharaibeh, Abeer, Smith, Richard H., Conway, Michael J.

“…Contaminated surfaces and indoor environments are important sources of infectious spread within hospital and non-hospital facilities. Bacterial infections such…”
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Grxcr2 is required for stereocilia morphogenesis in the cochlea by Avenarius, Matthew R, Jung, Jae-Yun, Askew, Charles, Jones, Sherri M, Hunker, Kristina L, Azaiez, Hela, Rehman, Atteeq U, Schraders, Margit, Najmabadi, Hossein, Kremer, Hannie, Smith, Richard J H, Géléoc, Gwenaëlle S G, Dolan, David F, Raphael, Yehoash, Kohrman, David C

“…Hearing and balance depend upon the precise morphogenesis and mechanosensory function of stereocilia, the specialized structures on the apical surface of…”
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The Role of Public Exposure in Moral and Nonmoral Shame and Guilt by Smith, Richard H, Webster, J. Matthew, Parrott, W. Gerrod, Eyre, Heidi L

“…Although scholarly traditions assume that shame results more from the public exposure of a transgression or incompetence than guilt does, this distinction has…”
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