The Mammalian Kidney. Biological Structure and Function

Por Scheinman, Steven J.
Publicado em 1976

Effects of Sex on Intra-Individual Variance in Urinary Solutes in Stone-Formers Collected from a Single Clinical Laboratory

Por Perry, Guy M. L., Scheinman, Steven J., Asplin, John R.
Publicado em 2013

Sex Modifies Genetic Effects on Residual Variance in Urinary Calcium Excretion in Rat (Rattus norvegicus)

Por Perry, Guy M. L., Nehrke, Keith W., Bushinsky, David A., Reid, Robert, Lewandowski, Krista L., Hueber, Paul, Scheinman, Steven J.
Publicado em 2012

Dent Disease with Mutations in OCRL1

Por Hoopes, Richard R., Shrimpton, Antony E., Knohl, Stephen J., Hueber, Paul, Hoppe, Bernd, Matyus, Janos, Simckes, Ari, Tasic, Velibor, Toenshoff, Burkhard, Suchy, Sharon F., Nussbaum, Robert L., Scheinman, Steven J.
Publicado em 2005

A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA

Por Wilson, Frederick H., Hariri, Ali, Farhi, Anita, Zhao, Hongyu, Petersen, Kitt Falk, Toka, Hakan R., Nelson-Williams, Carol, Raja, Khalid M., Kashgarian, Michael, Shulman, Gerald I., Scheinman, Steven J., Lifton, Richard P.
Publicado em 2004

Glomerular Pathology in Dent Disease and Its Association with Kidney Function

Por Wang, Xiangling, Anglani, Franca, Beara-Lasic, Lada, Mehta, Anila J., Vaughan, Lisa E., Herrera Hernandez, Loren, Cogal, Andrea, Scheinman, Steven J., Ariceta, Gema, Isom, Robert, Copelovitch, Lawrence, Enders, Felicity T., Del Prete, Dorella, Vezzoli, Giuseppe, Paglialonga, Fabio, Harris, Peter C., Lieske, John C.
Publicado no Clin J Am Soc Nephrol (2016)

Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

Por Bleyer, Anthony J., Kmoch, Stanislav, Antignac, Corinne, Robins, Vicki, Kidd, Kendrah, Kelsoe, John R., Hladik, Gerald, Klemmer, Philip, Knohl, Stephen J., Scheinman, Steven J., Vo, Nam, Santi, Ann, Harris, Alese, Canaday, Omar, Weller, Nelson, Hulick, Peter J., Vogel, Kristen, Rahbari-Oskoui, Frederick F., Tuazon, Jennifer, Deltas, Constantinos, Somers, Douglas, Megarbane, Andre, Kimmel, Paul L., Sperati, C. John, Orr-Urtreger, Avi, Ben-Shachar, Shay, Waugh, David A., McGinn, Stella, Bleyer, Anthony J., Hodaňová, Kateřina, Vylet'al, Petr, Živná, Martina, Hart, Thomas C., Hart, P. Suzanne
Publicado em 2014

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Por Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Lander, Eric S., Daly, Mark J.
Publicado em 2013

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Por Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L., Howie, Alexander J., Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C., Issler, Naomi, Nicholson, Jeremy K., Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B., McCredie, David A., Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J., Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M., Safatle, Heloisa P., Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E., Coletta, Ricardo D., Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B., Scheinman, Steven J., Ozdemir-Ozenen, Didem, Hart, Thomas C., Hart, P. Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A., Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J., Mighell, Alan, Berdal, Ariane, Kleta, Robert
Publicado em 2013