Role of oxidative stress and the activity of ethylene biosynthetic enzymes on the formation of spongy tissue in ‘Alphonso’ mango von Nagamani, J. E., Shivashankara, K. S., Roy, T. K.

Volltext

IN VITRO STUDY ON PROTEASE AND THROMBOLYTIC ACTIVITY OF AQUEOUS EXTRACT FROM LEUCAS ASPERA (L.) LEAVES von J. E., NAGAMANI, SAH, USHA, H. A., RAVINDRANATH

Volltext

Antimicrobial evaluation of novel substituted pyrimidinopyrazoles and pyrimidinotriazoles von H S Basavaraja, J E Nagamani, M M J Vijay kumar, Basavaraj Padmashali

Volltext

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect von Marom, Ronit, Song, I-Wen, Busse, Emily C, Washington, Megan E, Berrier, Ava S, Rossi, Vittoria C, Ortinau, Laura, Jeong, Youngjae, Jiang, Ming-Ming, Dawson, Brian C, Adeyeye, Mary, Leynes, Carolina, Lietman, Caressa D, Stroup, Bridget M, Batkovskyte, Dominyka, Jain, Mahim, Chen, Yuqing, Cela, Racel, Castellon, Alexis, Tran, Alyssa A, Lorenzo, Isabel, Meyers, D Nicole, Huang, Shixia, Turner, Alicia, Shenava, Vinitha, Wallace, Maegen, Orwoll, Eric, Park, Dongsu, Ambrose, Catherine G, Nagamani, Sandesh Cs, Heaney, Jason D, Lee, Brendan H

Volltext

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment von Sreenath Nagamani, S C, Zhang, F, Shchelochkov, O A, Bi, W, Ou, Z, Scaglia, F, Probst, F J, Shinawi, M, Eng, C, Hunter, J V, Sparagana, S, Lagoe, E, Fong, C-T, Pearson, M, Doco-Fenzy, M, Landais, E, Mozelle, M, Chinault, A C, Patel, A, Bacino, C A, Sahoo, T, Kang, S H, Cheung, S W, Lupski, J R, Stankiewicz, P

Volltext

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate von Diaz, George A., Krivitzky, Lauren S., Mokhtarani, Masoud, Rhead, William, Bartley, James, Feigenbaum, Annette, Longo, Nicola, Berquist, William, Berry, Susan A., Gallagher, Renata, Lichter‐Konecki, Uta, Bartholomew, Dennis, Harding, Cary O., Cederbaum, Stephen, McCandless, Shawn E., Smith, Wendy, Vockley, Gerald, Bart, Stephen A., Korson, Mark S., Kronn, David, Zori, Roberto, Merritt, J. Lawrence, C.S. Nagamani, Sandesh, Mauney, Joseph, LeMons, Cynthia, Dickinson, Klara, Moors, Tristen L., Coakley, Dion F., Scharschmidt, Bruce F., Lee, Brendan

Volltext

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease von van der Crabben, Saskia N, Hennus, Marije P, McGregor, Grant A, Ritter, Deborah I, Nagamani, Sandesh C S, Wells, Owen S, Harakalova, Magdalena, Chinn, Ivan K, Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M, Terheggen-Lagro, Suzanne W, van Lieshout, Stef, van Roosmalen, Markus J, Renkens, Ivo, Duran, Karen, Nijman, Isaac J, Kloosterman, Wigard P, Hennekam, Eric, Orange, Jordan S, van Hasselt, Peter M, Wheeler, David A, Palecek, Jan J, Lehmann, Alan R, Oliver, Antony W, Pearl, Laurence H, Plon, Sharon E, Murray, Johanne M, van Haaften, Gijs

Volltext

Improving access to exome sequencing in a medically underserved population through the Texome Project von Vuocolo, Blake, German, Ryan J., Lalani, Seema R., Murali, Chaya N., Bacino, Carlos A., Baskin, Stephanie, Littlejohn, Rebecca, Odom, John D., McLean, Scott, Schmid, Carrie, Nutter, Morgan, Stuebben, Melissa, Magness, Emily, Juarez, Olivia, El Achi, Dina, Mitchell, Bailey, Glinton, Kevin E., Robak, Laurie, Nagamani, Sandesh C.S., Saba, Lisa, Ritenour, Adasia, Zhang, Lilei, Streff, Haley, Chan, Katie, Kemere, K. Jordan, Carter, Kent, Mao, Dongxue, Kim, Seon Young, Pasupuleti, Sasidhar, Liu, Zhandong, Yamamoto, Shinya, Owen, Nichole, Vossaert, Liesbeth, Liu, Pengfei, Bellen, Hugo, Wangler, Michael F.

Volltext

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders von Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C. S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia‐Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan, Lee, Brendan, Harding, Cary O., Coughlin, Curtis R., Le Mons, Cynthia, Dobbelaere, Dries, Leão Teles, Elisa, Cortès‐Saladelafont, Elisenda, Gleich, Florian, Eyskens, Francois, Enns, Gregory, Wilkening, Greta N., Barić, Ivo, Lawrence Merritt, J., Heringer, Jana, Blasco‐Alonso, Javier, Zeman, Jiri, Häberle, Johannes, Sykut‐Cegielska, Jolanta, Djordjevic, Maja, Batshaw, Mark L., Summar, Marshall, Freisinger, Peter, Gallagher, Renata C., Berry, Susan A., Waisbren, Susan, Stricker, Tamar

Volltext

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 von Peddibhotla, Sirisha, Nagamani, Sandesh C S, Erez, Ayelet, Hunter, Jill V, Holder, Jr, J Lloyd, Carlin, Mary E, Bader, Patricia I, Perras, Helene M F, Allanson, Judith E, Newman, Leslie, Simpson, Gayle, Immken, LaDonna, Powell, Erin, Mohanty, Aaron, Kang, Sung-Hae L, Stankiewicz, Pawel, Bacino, Carlos A, Bi, Weimin, Patel, Ankita, Cheung, Sau W

Volltext

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders von Burrage, Lindsay C., Jain, Mahim, Gandolfo, Laura, Lee, Brendan H., Nagamani, Sandesh C.S.

Volltext

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements von Liu, Pengfei, Erez, Ayelet, Nagamani, Sandesh C. Sreenath, Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P.J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin

Volltext

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria von Zielonka, Matthias, Garbade, Sven F., Gleich, Florian, Okun, Jürgen G., Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Kölker, Stefan, Posset, Roland, Ah Mew, Nicholas, Burrage, Lindsay C., Schulze, Andreas, Berry, Susan A., Baumgartner, Matthias R., Diaz, George A., Merritt, J. Lawrence, Bedoyan, Jirair K., Wong, Derek, Harding, Cary O., Yudkoff, Marc, Garcia‐Cazorla, Angeles, Cortès‐Saladelafont, Elisenda, Lund, Allan M., Dionisi‐Vici, Carlo, Burlina, Alberto B., Morris, Andrew A., Freisinger, Peter, Walter, Magdalena E., Jalan, Anil, Schiff, Manuel, Dobbelaere, Dries, Bosch, Annet M., Ioannou, Harikleia, Barić, Ivo

Volltext

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta von Bains, Jaskaran S, Carter, Erin M, Citron, Kate P, Boskey, Adele L, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Byers, Peter H, Pepin, Melanie, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Sliepka, Joseph M, Sutton, V Reid, Lee, Brendan, Nagamani, Sandesh CS, Raggio, Cathleen L

Volltext

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria von Nagamani, Sandesh C.S., Shchelochkov, Oleg A., Mullins, Mary A., Carter, Susan, Lanpher, Brendan C., Sun, Qin, Kleppe, Soledad, Erez, Ayelet, O'Brian Smith, E., Marini, Juan C., Lee, Brendan

Volltext

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA... von Mokhtarani, M., Diaz, G.A., Rhead, W., Berry, S.A., Lichter-Konecki, U., Feigenbaum, A., Schulze, A., Longo, N., Bartley, J., Berquist, W., Gallagher, R., Smith, W., McCandless, S.E., Harding, C., Rockey, D.C., Vierling, J.M., Mantry, P., Ghabril, M., Brown, R.S., Dickinson, K., Moors, T., Norris, C., Coakley, D., Milikien, D.A., Nagamani, S.C., LeMons, C., Lee, B., Scharschmidt, B.F.

Volltext

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features von Pan, Xueyang, Tao, Alice M., Lu, Shenzhao, Ma, Mengqi, Hannan, Shabab B., Slaugh, Rachel, Drewes Williams, Sarah, O'Grady, Lauren, Kanca, Oguz, Person, Richard, Carter, Melissa T., Platzer, Konrad, Schnabel, Franziska, Abou Jamra, Rami, Roberts, Amy E., Newburger, Jane W., Revah-Politi, Anya, Granadillo, Jorge L., Stegmann, Alexander P.A., Sinnema, Margje, Accogli, Andrea, Salpietro, Vincenzo, Capra, Valeria, Ghaloul-Gonzalez, Lina, Brueckner, Martina, Simon, Marleen E.H., Sweetser, David A., Glinton, Kevin E., Kirk, Susan E., Burrage, Lindsay C., Heaney, Jason D., Kim, Seon-Young, Lanza, Denise G., Liu, Zhandong, Mao, Dongxue, Milosavljevic, Aleksander, Nagamani, Sandesh C.S., Posey, Jennifer E., Ramamurthy, Uma, Ramanathan, Vivek, Rogers, Jeffrey, Rosenfeld, Jill A., Roth, Matthew, Zahedi Darshoori, Ramin, Wangler, Michael F., Yamamoto, Shinya, Chung, Wendy K., Bellen, Hugo J.

Volltext

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials von Nagamani, Sandesh C S, Diaz, George A, Rhead, William, Berry, Susan A, Le Mons, Cynthia, Lichter-Konecki, Uta, Bartley, James, Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Vockley, Jerry, Kronn, David, Zori, Robert, Cederbaum, Stephen, Merritt, 2nd, J Lawrence, Wong, Derek, Coakley, Dion F, Scharschmidt, Bruce F, Dickinson, Klara, Marino, Miguel, Lee, Brendan H, Mokhtarani, Masoud

Volltext

Glutamine and hyperammonemic crises in patients with urea cycle disorders von Lee, B., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S.A., Le Mons, C., Bartley, J., Longo, N., Nagamani, S.C., Berquist, W., Gallagher, R.C., Harding, C.O., McCandless, S.E., Smith, W., Schulze, A., Marino, M., Rowell, R., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.

Volltext

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder von Lee, Brendan, Diaz, George A., Rhead, William, Lichter-Konecki, Uta, Feigenbaum, Annette, Berry, Susan A., Le Mons, Cindy, Bartley, James A., Longo, Nicola, Nagamani, Sandesh C., Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O., Korson, Mark S., McCandless, Shawn E., Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, J. Lawrence, Schulze, Andreas, Vockley, Gerard, Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, Douglas A., Marino, Miguel, Coakley, Dion F., Mokhtarani, Masoud, Scharschmidt, Bruce F.

Volltext