Search Results - "Benko, S"

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development by Benko, Sabina, Gordon, Christopher T, Mallet, Delphine, Sreenivasan, Rajini, Thauvin-Robinet, Christel, Brendehaug, Atle, Thomas, Sophie, Bruland, Ove, David, Michel, Nicolino, Marc, Labalme, Audrey, Sanlaville, Damien, Callier, Patrick, Malan, Valerie, Huet, Frédéric, Molven, Anders, Dijoud, Frédérique, Munnich, Arnold, Faivre, Laurence, Amiel, Jeanne, Harley, Vincent, Houge, Gunnar, Morel, Yves, Lyonnet, Stanislas

“…The early gonad is bipotential and can differentiate into either a testis or an ovary. In XY embryos, the SRY gene triggers testicular differentiation and…”
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Nod1 and Nod2 in innate immunity and human inflammatory disorders by Le Bourhis, L, Benko, S, Girardin, S E

“…Nod (nucleotide-binding oligomerization domain) 1 and Nod2 are intracellular PRMs (pattern-recognition molecules) of the NLR (Nod-like receptor) family. These…”
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The hyperfluidization of mammalian cell membranes acts as a signal to initiate the heat shock protein response by Balogh, Gábor, Horváth, Ibolya, Nagy, Enikõ, Hoyk, Zsófia, Benkõ, Sándor, Bensaude, Olivier, Vígh, László

“…The concentrations of two structurally distinct membrane fluidizers, the local anesthetic benzyl alcohol (BA) and heptanol (HE), were used at concentrations so…”
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Randomized, controlled trial of miglustat in Gaucher's disease type 3 by Schiffmann, Raphael, FitzGibbon, Edmond J., Harris, Chris, DeVile, Catherine, Davies, Elin H., Abel, Larry, Van Schaik, Ivo N., Benko, William S., Timmons, Margaret, Ries, Markus, Vellodi, Ashok

“…Objective To evaluate the efficacy and safety of miglustat, concomitant with enzyme replacement therapy (ERT), in patients with Gaucher's disease type 3 (GD3)…”
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Long-range regulation at the SOX9 locus in development and disease by Gordon, C T, Tan, T Y, Benko, S, Fitzpatrick, D, Lyonnet, S, Farlie, P G

“…The involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years ago with the identification of mutations in and around the gene in…”
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CSF and Blood Levels of GFAP in Alexander Disease by Jany, Paige L, Agosta, Guillermo E, Benko, William S, Eickhoff, Jens C, Keller, Stephanie R, Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L, Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S, Messing, Albee

“…Alexander disease is a rare, progressive, and generally fatal neurological disorder that results from dominant mutations affecting the coding region of GFAP,…”
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Continuous infusion versus intermittent administration of ceftazidime in critically ill patients with suspected gram-negative infections by BENKO, A. S, CAPPELLETTY, D. M, KRUSE, J. A, RYBAK, M. J

“…Services AAC Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit StumbleUpon…”
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Membrane Physical State Controls the Signaling Mechanism of the Heat Shock Response in Synechocystis PCC 6803: Identification of hsp17 as a ``Fluidity Gene by Horvath, Ibolya, Glatz, Attila, Varvasovszki, Viktoria, Torok, Zsolt, Pali, Tibor, Balogh, Gabor, Kovacs, Eszter, Nadasdi, Levente, Benko, Sandor, Joo, Ferenc, Vigh, Laszlo

“…The fluidity of Synechocystis membranes was adjusted in vivo by temperature acclimation, addition of fluidizer agent benzyl alcohol, or catalytic lipid…”
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UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3 by BENKO, W. S, HRUSKA, K. S, NAGAN, N, GOKER-ALPAN, O, HART, P. S, SCHIFFMANN, R, SIDRANSKY, E

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Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants by Stellingwerff, Menno D, Nulton, Corinne, Helman, Guy, Roosendaal, Stefan D, Benko, William S, Pizzino, Amy, Bugiani, Marianna, Vanderver, Adeline, Simons, Cas, van der Knaap, Marjo S

“…Heterozygous variants are known to cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with patients…”
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Cardiorespiratory Effects of Naloxone in Children by Hasan, Rashed A, Benko, Amy S, Nolan, Brian M, Campe, Julie, Duff, Jenny, Zureikat, George Y

“…BACKGROUND: Data on the cardiorespiratory changes and complications following administration of naloxone in children are limited. OBJECTIVE: To evaluate the…”
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Hospital Utilization Among Rural Children Served by Pediatric Neurology Telemedicine Clinics by Dayal, Parul, Chang, Celia H, Benko, William S, Pollock, Brad H, Crossen, Stephanie S, Kissee, Jamie, Ulmer, Aaron M, Hoch, Jeffrey S, Warner, Leslie, Marcin, James P

“…Telemedicine is increasingly used to provide outpatient pediatric neurology consultations in underserved communities. Although telemedicine clinics have been…”
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Appointment completion in pediatric neurology telemedicine clinics serving underserved patients by Dayal, Parul, Chang, Celia H, Benko, William S, Ulmer, Aaron M, Crossen, Stephanie S, Pollock, Brad H, Hoch, Jeffrey S, Kissee, Jamie L, Warner, Leslie, Marcin, James P

“…To determine whether telemedicine improves access to outpatient neurology care for underserved patients, we compared appointment completion between urban,…”
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The NLRP3 inflammasome - interleukin 1 pathway as a therapeutic target in gout by Szekanecz, Zoltán, Szamosi, Szilvia, Kovács, Gergő E., Kocsis, Elek, Benkő, Szilvia

“…The NLRP3 inflammasome is implicated in the processing of the pro-inflammatory cytokine interleukin 1β. Inflammatory disorders associated with the activation…”
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34 Our Growing Challenge: Urban Emergency Department Workplace Violence Based on Gender, Healthcare Role, and Barriers to Reporting by Bradley, M., Rabin, S., Redpath, S., Cozzi, N., Benko, S., Akinfemiwa, O., Mati, W., Clayton, C., Ward, E., Gottleib, M., Purim-ShemTov, Y.

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Genetics of congenitally corrected transposition of the great arteries: Whole-exome sequencing shows a mutation load effect in 156 genes involved in cardiac patterning by Benadjaoud, Y., Benko, S., Jabot Hanin, F., Bonnet, D., Lyonnet, S.

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence by Vazquez, Marie-Paule, Fantes, Judy A, Vekemans, Michel, Holder-Espinasse, Muriel, Gordon, Christopher T, Kilpatrick, Nicky, Perry, Paul, Heaney, Simon, Thomas, Sophie, Ayuso, Carmen, Ramsay, Jacqueline, Lees, Melissa M, Crollius, Hugues Roest, Farlie, Peter G, Abadie, Véronique, Temple, I Karen, Lyonnet, Stanislas, Amiel, Jeanne, Fisher, Malcolm, Thomas, Paul, Kleinjan, Dirk-Jan, Etchevers, Heather C, Benko, Sabina, Jamshidi, Negar, Munnich, Arnold, Pelet, Anna, Essafi, Abdelkader, McBride, David, FitzPatrick, David R, Golzio, Christelle, Picard, Arnaud, Hastie, Nicholas D

“…Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS,…”
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Genetics of congenitally corrected transposition of the great arteries: Whole-exome sequencing shows a mutation load effect in 156 genes involved in cardiac patterning by Benadjaoud, Y., Benko, S., Jabot Hanin, F., Bonnet, D., Lyonnet, S.

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Free sialic acid storage disease without sialuria by Mochel, Fanny, Yang, Bingzhi, Barritault, Julie, Thompson, Jerry N., Engelke, Udo F. H., McNeill, Nathan H., Benko, William S., Kaneski, Christine R., Adams, David R., Tsokos, Maria, Abu-Asab, Mones, Huizing, Marjan, Seguin, Francois, Wevers, Ron A., Ding, Jiahuan, Verheijen, Frans W., Schiffmann, Raphael

“…We performed high‐resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of 44 patients with…”
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HLA genetic diversity in Hungarians and Hungarian Gypsies: complementary differentiation patterns and demographic signals revealed by HLA-A, -B and -DRB1 in Central Europe by Inotai, D., Szilvasi, A., Benko, S., Boros-Major, A., Illes, Z., Bors, A., Kiss, K. P., Rajczy, K., Gelle-Hossó, A., Buhler, S., Nunes, J. M., Sanchez-Mazas, A., Tordai, A.

“…Systematic analyses of human leukocyte antigen (HLA) profiles in different populations may increase the efficiency of bone marrow donor selection and help…”
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