Search Results - "Jeffrey Kim, H"

Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI) by Theng, Elizabeth H, Brewer, Carmen C, Oheim, Ralf, Zalewski, Christopher K, King, Kelly A, Delsmann, Maximillian M, Rolvien, Tim, Gafni, Rachel I, Braddock, Demetrios T, Jeffrey Kim, H, Ferreira, Carlos R

“…Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which…”
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Neurofibromatosis type 2 by Asthagiri, Ashok R, Dr, Parry, Dilys M, PhD, Butman, John A, MD, Kim, H Jeffrey, MD, Tsilou, Ekaterini T, MD, Zhuang, Zhengping, Prof, Lonser, Russell R, Prof

“…Summary Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on…”
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Mapping gene clusters within arrayed metagenomic libraries to expand the structural diversity of biomedically relevant natural products by Owen, Jeremy G., Reddy, Boojala Vijay B., Ternei, Melinda A., Charlop-Powers, Zachary, Calle, Paula Y., Kim, Jeffrey H., Brady, Sean F.

“…Complex microbial ecosystems contain large reservoirs of unexplored biosynthetic diversity. Here we provide an experimental framework and data analysis tool to…”
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Reconstruction of the Anterior External Auditory Canal With Mastoid Cortex Autologous Bone Graft by Lovett, Braeden L., Shearer, Sarah C., Kim, H. Jeffrey

“…To describe the surgical management of temporomandibular joint (TMJ) herniation with external auditory canal (EAC) reconstruction using autologous bone…”
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Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three- and five-year outcomes by Sibley, Cailin H., Plass, Nikki, Snow, Joseph, Wiggs, Edythe A., Brewer, Carmen C., King, Kelly A., Zalewski, Christopher, Kim, H. Jeffrey, Bishop, Rachel, Hill, Suvimol, Paul, Scott M., Kicker, Patrick, Phillips, Zachary, Dolan, Joseph G., Widemann, Brigitte, Jayaprakash, Nalini, Pucino, Frank, Stone, Deborah L., Chapelle, Dawn, Snyder, Christopher, Butman, John A., Wesley, Robert, Goldbach-Mansky, Raphaela

“…Objective Blocking interleukin‐1 with anakinra in patients with the autoinflammatory syndrome neonatal‐onset multisystem inflammatory disease (NOMID) reduces…”
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A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome by McDermott, David H, Velez, Daniel, Cho, Elena, Cowen, Edward W, DiGiovanna, John J, Pastrana, Diana V, Buck, Christopher B, Calvo, Katherine R, Gardner, Pamela J, Rosenzweig, Sergio D, Stratton, Pamela, Merideth, Melissa A, Kim, H Jeffrey, Brewer, Carmen, Katz, James D, Kuhns, Douglas B, Malech, Harry L, Follmann, Dean, Fay, Michael P, Murphy, Philip M

“…BACKGROUNDWarts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous…”
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Expanding Small-Molecule Functional Metagenomics through Parallel Screening of Broad-Host-Range Cosmid Environmental DNA Libraries in Diverse Proteobacteria by Craig, Jeffrey W, Chang, Fang-Yuan, Kim, Jeffrey H, Obiajulu, Steven C, Brady, Sean F

“…The small-molecule biosynthetic diversity encoded within the genomes of uncultured bacteria is an attractive target for the discovery of natural products using…”
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Phenotype and Course of Hutchinson–Gilford Progeria Syndrome by Merideth, Melissa A, Gordon, Leslie B, Clauss, Sarah, Sachdev, Vandana, Smith, Ann C.M, Perry, Monique B, Brewer, Carmen C, Zalewski, Christopher, Kim, H. Jeffrey, Solomon, Beth, Brooks, Brian P, Gerber, Lynn H, Turner, Maria L, Domingo, Demetrio L, Hart, Thomas C, Graf, Jennifer, Reynolds, James C, Gropman, Andrea, Yanovski, Jack A, Gerhard-Herman, Marie, Collins, M.D. Francis S, Nabel, Elizabeth G, Cannon, Richard O, Gahl, William A, Introne, Wendy J

“…This article describes the detailed phenotype of 15 children, 1 to 17 years of age, with Hutchinson–Gilford progeria syndrome, a rare, sporadic autosomal…”
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Genetic Hearing Loss Associated With Autoinflammation by Nakanishi, Hiroshi, Prakash, Pragya, Ito, Taku, Kim, H Jeffrey, Brewer, Carmen C, Harrow, Danielle, Roux, Isabelle, Hosokawa, Seiji, Griffith, Andrew J

“…Sensorineural hearing loss can result from dysfunction of the inner ear, auditory nerve, or auditory pathways in the central nervous system. Sensorineural…”
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Three cases of uncommon medication‐associated osteonecrosis of temporal bone by VanDolah, Hunter, Crossley, Jason R., Kim, H. Jeffrey

“…Introduction Medication‐related osteonecrosis of the temporal bone is rare and has been reported to be associated with the use of anti‐resorptive and biologic…”
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A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease by Sibley, Cailin H, Chioato, Andrea, Felix, Sandra, Colin, Laurence, Chakraborty, Abhijit, Plass, Nikki, Rodriguez-Smith, Jackeline, Brewer, Carmen, King, Kelly, Zalewski, Christopher, Kim, H Jeffrey, Bishop, Rachel, Abrams, Ken, Stone, Deborah, Chapelle, Dawn, Kost, Bahar, Snyder, Christopher, Butman, John A, Wesley, Robert, Goldbach-Mansky, Raphaela

“…To study efficacy and safety of escalating doses of canakinumab, a fully human anti-IL-1β monoclonal antibody in the severe cryopyrin-associated periodic…”
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Natural Product Biosynthetic Gene Diversity in Geographically Distinct Soil Microbiomes by REDDY, Boojala Vijay B, KALLIFIDAS, Dimitris, KIM, Jeffrey H, CHARLOP-POWERS, Zachary, ZHIYANG FENG, BRADY, Sean F

“…Classifications Services AEM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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Hypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms? by Choi, Byung Yoon, Stewart, Andrew K., Madeo, Anne C., Pryor, Shannon P., Lenhard, Suzanne, Kittles, Rick, Eisenman, David, Jeffrey Kim, H., Niparko, John, Thomsen, James, Arnos, Kathleen S., Nance, Walter E., King, Kelly A., Zalewski, Christopher K., Brewer, Carmen C., Shawker, Thomas, Reynolds, James C., Butman, John A., Karniski, Lawrence P., Alper, Seth L., Griffith, Andrew J.

“…Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene encoding pendrin, a transmembrane…”
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Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy by Debs, Sarah, Ferreira, Carlos R., Groden, Catherine, Kim, H. Jeffrey, King, Kelly A., King, Monique C., Lehky, Tanya, Cowen, Edward W., Brown, Laura H., Merideth, Melissa, Owen, Carter M., Macnamara, Ellen, Toro, Camilo, Gahl, William A., Soldatos, Ariane

“…A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated…”
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Metagenomic approaches to natural products from free-living and symbiotic organisms by Brady, Sean F, Simmons, Luke, Kim, Jeffrey H, Schmidt, Eric W

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Optic Neuropathy in McCune-Albright Syndrome: Effects of Early Diagnosis and Treatment of Growth Hormone Excess by Boyce, Alison M, Glover, McKinley, Kelly, Marilyn H, Brillante, Beth A, Butman, John A, Fitzgibbon, Edmond J, Brewer, Carmen C, Zalewski, Christopher K, Cutler Peck, Carolee M, Kim, H. Jeffrey, Collins, Michael T

“…Context: GH excess is a serious complication of McCune-Albright syndrome (MAS) and has been associated with craniofacial morbidity. Objective: The aim of the…”
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Mechanisms of hearing loss in neurofibromatosis type 2 by Asthagiri, Ashok R, Vasquez, Raul A, Butman, John A, Wu, Tianxia, Morgan, Keaton, Brewer, Carmen C, King, Kelly, Zalewski, Chris, Kim, H Jeffrey, Lonser, Russell R

“…Patients with neurofibromatosis type 2 (NF2) develop bilateral cochleovestibular schwannomas (CVSs) that cause binaural deafness in most individuals. Hearing…”
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Gradual Symmetric Progression of DFNA34 Hearing Loss Caused by an NLRP3 Mutation and Cochlear Autoinflammation by Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto, Muskett, Julie A, Kim, H Jeffrey, Brewer, Carmen C, Griffith, Andrew J

“…OBJECTIVE:To characterize the audiometric phenotype of autosomal-dominant DFNA34 hearing loss (HL) caused by a missense substitution in the NLRP3 gene. NLRP3…”
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Reliability of Home Sleep Apnea Testing for Diagnosing Obstructive Sleep Apnea in Patients With Spontaneous Cerebrospinal Fluid Leaks by Johns, James D, Mortazavi, Armin, Welschmeyer, Alexandra, Kim, H. Jeffrey, Mikula, Suzette K, Hoa, Michael

“…Study Objectives: To establish the prevalence of obstructive sleep apnea (OSA) in patients with spontaneous cerebrospinal fluid (sCSF) leaks and demonstrate…”
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Review of Speech Outcomes in Cochlear Implant Recipients at a Nascent Cochlear Implant Program by Aminpour, Nathan, Levin, Laura, Finkbone, Mary, Morikawa, Michael, Blumgart, Melissa, Kim, H Jeffrey, Hoa, Michael

“…The use of cochlear implantation to rehabilitate moderate to profound sensorineural hearing loss has become more widespread; however, the adult utilization…”
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