Search Results - "Dugan, Sarah"

Impact of vaccination on keratoplasty by Dugan, Sarah P., Mian, Shahzad I.

“…Corneal graft rejection has been reported after coronavirus disease 2019 (COVID-19) vaccination. The purpose of this review is to evaluate the literature…”
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Impact of vaccination on keratoplasty by Dugan, Sarah P., Mian, Shahzad I.

“…Corneal graft rejection has been reported after coronavirus disease 2019 (COVID-19) vaccination. The purpose of this review is to evaluate the literature…”
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A case of ciliary body cyst with extrascleral extension by Nylander, Jenna, Dugan, Sarah P., Lam, Jocelyn, Elner, Victor M., Gappy, Christopher, Demirci, Hakan

“…We report the case of a 3-year-old girl who presented with an elevated, darkly colored, subconjunctival lesion found to be a ciliary body cyst with…”
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De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder by Shen, Wei, Krautscheid, Patti, Rutz, Audrey M., Bayrak-Toydemir, Pinar, Dugan, Sarah L.

“…De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features…”
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Bilateral exudative retinal detachments and associated choroidal detachments in a patient on dapsone: a case report by Dugan, Sarah P, Demirci, Hakan

“…Dapsone is a synthetic sulfonamide used to treat numerous dermatologic conditions. Ocular side effects have been rarely reported and include retinal necrosis,…”
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7q11.23 Duplication syndrome: Physical characteristics and natural history by Morris, Colleen A., Mervis, Carolyn B., Paciorkowski, Alex P., Abdul-Rahman, Omar, Dugan, Sarah L., Rope, Alan F., Bader, Patricia, Hendon, Laura G., Velleman, Shelley L., Klein-Tasman, Bonita P., Osborne, Lucy R.

“…In order to describe the physical characteristics, medical complications, and natural history of classic 7q11.23 duplication syndrome [hereafter Dup7 (MIM…”
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder by Carapito, Raphael, Ivanova, Ekaterina L., Morlon, Aurore, Meng, Linyan, Molitor, Anne, Erdmann, Eva, Kieffer, Bruno, Pichot, Angélique, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Tran Mau-Them, Frédéric, Jean-Marçais, Nolwenn, Hiatt, Susan M., Cooper, Gregory M., Tvrdik, Tatiana, Muir, Alison M., Dimartino, Clémantine, Chopra, Maya, Amiel, Jeanne, Gordon, Christopher T., Dutreux, Fabien, Garde, Aurore, Thauvin-Robinet, Christel, Wang, Xia, Leduc, Magalie S., Phillips, Meredith, Crawford, Heather P., Kukolich, Mary K., Hunt, David, Harrison, Victoria, Kharbanda, Mira, Smigiel, Robert, Gold, Nina, Hung, Christina Y., Viskochil, David H., Dugan, Sarah L., Bayrak-Toydemir, Pinar, Joly-Helas, Géraldine, Guerrot, Anne-Marie, Schluth-Bolard, Caroline, Rio, Marlène, Wentzensen, Ingrid M., McWalter, Kirsty, Schnur, Rhonda E., Lewis, Andrea M., Lalani, Seema R., Mensah-Bonsu, Noël, Céraline, Jocelyn, Sun, Zijie, Ploski, Rafal, Bacino, Carlos A., Mefford, Heather C., Faivre, Laurence, Bodamer, Olaf, Chelly, Jamel, Isidor, Bertrand, Bahram, Seiamak

“…ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual…”
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Urinary MyProstateScore (MPS) to Rule out Clinically-Significant Cancer in Men with Equivocal (PI-RADS 3) Multiparametric MRI: Addressing an Unmet Clinical Need by Tosoian, Jeffrey J., Singhal, Udit, Davenport, Matthew S., Wei, John T., Montgomery, Jeffrey S., George, Arvin K., Salami, Simpa S., Mukundi, Stanley G., Siddiqui, Javed, Kunju, Lakshmi P., Tooke, Benjamin P., Ryder, C. Yoonhee, Dugan, Sarah P., Chopra, Zoey, Botbyl, Rachel, Feng, Yilin, Sessine, Michael S., Eyrich, Nicholas W., Ross, Ashley E., Trock, Bruce J., Tomlins, Scott A., Palapattu, Ganesh S., Chinnaiyan, Arul M., Niknafs, Yashar S., Morgan, Todd M.

“…To evaluate the complementary value of urinary MyProstateScore (MPS) testing and multiparametric MRI (mpMRI) and assess outcomes in patients with equivocal…”
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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy by Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally

“…Summary Objective IQSEC2 is an X‐linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic…”
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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia by Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne-Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao-Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna-Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.

“…The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with over 50 known causative genes. We identified a recurrent mutation…”
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Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions by Dugan, Sarah L., Panza, Emanuele, Openshaw, Amanda, Botto, Lorenzo D., Camacho, Jose A., Toydemir, Reha M.

“…Interstitial deletions of chromosome 9q31 are very rare. The deletions in most reported patients have been detected by conventional cytogenetics, with reported…”
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Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature by Herriges, John C, Dugan, Sarah L, Lamb, Allen N

“…There are only ten reported cases of interstitial deletions involving cytogenetic bands 10q21.3q22.2 in the literature. Of the ten patients with overlapping…”
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Neuroradiographic findings in 22q11.2 deletion syndrome by Bohm, Lauren A., Zhou, Tom C., Mingo, Tyler J., Dugan, Sarah L., Patterson, Richard J., Sidman, James D., Roby, Brianne B.

“…22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental…”
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Imputing HbA1c from capillary blood glucose levels in patients with type 2 diabetes in Sri Lanka: a cross-sectional study by Choo, Monica, Hoy, Gregory E., Dugan, Sarah P., McEwen, Laura N., Gunaratnam, Naresh, Wyckoff, Jennifer, Jeevaraaj, Thangarasa, Saththiyaseelan, Arunachalam, Ganeikabahu, B., Katulanda, Prasad, Balis, Ulysses, Herman, William H., Saha, Anjan K.

“…ObjectiveTo develop a population-specific methodology for estimating glycaemic control that optimises resource allocation for patients with diabetes in rural…”
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Intracranial Calcifications in Young Children by Dugan, Sarah L., MD, Botto, Lorenzo D., MD, Hedlund, Gary L., DO, Bale, James F., MD

“…Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic…”
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder by Carapito, Raphael, Ivanova, Ekaterina L., Morlon, Aurore, Meng, Linyan, Molitor, Anne, Erdmann, Eva, Kieffer, Bruno, Pichot, Angélique, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Tran Mau-Them, Frédéric, Jean-Marçais, Nolwenn, Hiatt, Susan M., Cooper, Gregory M., Tvrdik, Tatiana, Muir, Alison M., Dimartino, Clémantine, Chopra, Maya, Amiel, Jeanne, Gordon, Christopher T., Dutreux, Fabien, Garde, Aurore, Thauvin-Robinet, Christel, Wang, Xia, Leduc, Magalie S., Phillips, Meredith, Crawford, Heather P., Kukolich, Mary K., Hunt, David, Harrison, Victoria, Kharbanda, Mira, Smigiel, Robert, Gold, Nina, Hung, Christina Y., Viskochil, David H., Dugan, Sarah L., Bayrak-Toydemir, Pinar, Joly-Helas, Géraldine, Guerrot, Anne-Marie, Schluth-Bolard, Caroline, Rio, Marlène, Wentzensen, Ingrid M., McWalter, Kirsty, Schnur, Rhonda E., Lewis, Andrea M., Lalani, Seema R., Mensah-Bonsu, Noël, Céraline, Jocelyn, Sun, Zijie, Ploski, Rafal, Bacino, Carlos A., Mefford, Heather C., Faivre, Laurence, Bodamer, Olaf, Chelly, Jamel, Isidor, Bertrand, Bahram, Seiamak

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New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse by Dugan, Sarah L., Temme, Renee T., Olson, Rebecca A., Mikhailov, Anna, Law, Rosalind, Mahmood, Huda, Noor, Abdul, Vincent, John B.

“…Latent TGFB‐binding protein 3 (LTBP3) is known to increase bio‐availability of TGFB. A homozygous mutation in this gene has previously been associated with…”
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Personal factors understood through the Ecological-Enactive Model of Disability and implications for rehabilitation research by Schwab, Sarah M., Spencer, Caroline, Carver, Nicole S., Andrade, Valéria, Dugan, Sarah, Greve, Kelly, Silva, Paula L.

“…The International Classification of Functioning, Disability and Health (ICF) recognizes that disability arises from the interaction between an individual with…”
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Deletion at an 1q24 locus reveals a critical role of long noncoding RNA DNM3OS in skeletal development by Yu, Ting-Ting, Xu, Qiu-Fan, Li, Si-Yang, Huang, Hui-Jie, Dugan, Sarah, Shao, Lei, Roggenbuck, Jennifer A, Liu, Xiao-Tong, Liu, Huai-Ze, Hirsch, Betsy A, Yue, Shen, Liu, Chen, Cheng, Steven Y

“…Skeletal development and maintenance are complex processes known to be coordinated by multiple genetic and epigenetic signaling pathways. However, the role of…”
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Rural Children's Responses to the Flight 93 Crash on September 11, 2001 by Kerr, Mary Margaret, Fried, Sara E., Price, Rebecca H., Cornick, Corey, Dugan, Sarah E.

“…Few researchers have the opportunity to study children's experiences in the days immediately following a disaster, especially in the case of terrorism. No…”
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