نتائج البحث - Steven J. Scheinman

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  1. 1
    X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations

    X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations حسب Steven J. Scheinman

    منشور في 1998
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    Revisão
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  2. 2
    Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

    Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. حسب Steven J. Scheinman, Mark A. Pook, C Wooding, J T Pang, Paul A. Frymoyer, Rajesh V. Thakker

    منشور في 1993
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    Artigo
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  3. 3
    X-Linked Recessive Nephrolithiasis with Renal Failure

    X-Linked Recessive Nephrolithiasis with Renal Failure حسب Paul A. Frymoyer, Steven J. Scheinman, Philip B. Dunham, David B. Jones, Paul Hueber, E. Todd Schroeder

    منشور في 1991
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    Artigo
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  4. 4
    Evidence for genetic heterogeneity in Dent's disease

    Evidence for genetic heterogeneity in Dent's disease حسب R R Hoopes, Khalid Mehmood Raja, April Koich, Paul Hueber, Robert J. Reid, Stephen J. Knohl, Steven J. Scheinman

    منشور في 2004
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    Artigo
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  5. 5
    Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases

    Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases حسب Anthony G.W. Norden, Steven J. Scheinman, M Deschodt-Lanckman, Marta Lapsley, Joëlle Nortier, Rajesh V. Thakker, Robert J. Unwin, Oliver Wrong

    منشور في 2000
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    Artigo
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  6. 6
    Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients

    Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients حسب Pierre Moulin, Takashi Igarashi, Patrick Van Deŕ Smissen, Jean‐Pierre Cosyns, P Verroust, Rajesh V. Thakker, Steven J. Scheinman, Pierre J. Courtoy, Olivier Devuyst

    منشور في 2003
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    Artigo
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  7. 7
    Glomerular protein sieving and implications for renal failure in Fanconi syndrome

    Glomerular protein sieving and implications for renal failure in Fanconi syndrome حسب Anthony G.W. Norden, Marta Lapsley, Philip Lee, Charles D. Pusey, Steven J. Scheinman, Frederick W.K. Tam, Rajesh V. Thakker, Robert J. Unwin, Oliver Wrong

    منشور في 2001
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    Artigo
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  8. 8
    Responsiveness of Hypercalciuria to Thiazide in Dent’s Disease

    Responsiveness of Hypercalciuria to Thiazide in Dent’s Disease حسب Khalid A Raja, Scott J. Schurman, Richard D’Mello, Douglas L. Blowey, Paul Goodyer, Scott Van Why, Robert Ploutz‐Snyder, John R. Asplin, Steven J. Scheinman

    منشور في 2002
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    Artigo
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  9. 9
    Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.

    Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. حسب Scott C. Reinhart, Anthony G.W. Norden, M Lapsley, Rajesh V. Thakker, Jun Pang, Arnold M. Moses, Paul A. Frymoyer, Murray J. Favus, John A. Hoepner, Steven J. Scheinman

    منشور في 1995
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    Artigo
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  10. 10
    Dent Disease with Mutations in OCRL1

    Dent Disease with Mutations in OCRL1 حسب R R Hoopes, Antony E. Shrimpton, Stephen J. Knohl, Paul Hueber, Bernd Höppe, János Mátyus, Ari M. Simckes, Velibor Tasic, Burkhard Toenshoff, Sharon F. Suchy, Robert L. Nussbaum, Steven J. Scheinman

    منشور في 2005
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    Artigo
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  11. 11
    A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA

    A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA حسب Frederick H. Wilson, Ali Hariri, Anita Farhi, Hongyu Zhao, Kitt Falk Petersen, Hakan R. Toka, Carol Nelson‐Williams, Khalid Mehmood Raja, Michael Kashgarian, Gerald I. Shulman, Steven J. Scheinman, Richard P. Lifton

    منشور في 2004
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    Artigo
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  12. 12
    Urinary Megalin Deficiency Implicates Abnormal Tubular Endocytic Function in Fanconi Syndrome

    Urinary Megalin Deficiency Implicates Abnormal Tubular Endocytic Function in Fanconi Syndrome حسب Anthony G.W. Norden, Marta Lapsley, Takashi Igarashi, Catherine L. Kelleher, Philip Lee, Takeshi Matsuyama, Steven J. Scheinman, Hiroshi Shiraga, David P. Sundin, Rajesh V. Thakker, Robert J. Unwin, P Verroust, Søren K. Moestrup

    منشور في 2002
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    Artigo
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  13. 13
    Glomerular Pathology in Dent Disease and Its Association with Kidney Function

    Glomerular Pathology in Dent Disease and Its Association with Kidney Function حسب Xiangling Wang, Franca Anglani, Lada Beara‐Lasić, Anila Mehta, Lisa E. Vaughan, Loren Herrera Hernandez, Andrea G. Cogal, Steven J. Scheinman, Gema Ariceta, Robert T. Isom, Lawrence Copelovitch, Felicity Enders, Dorella Del Prete, Giuseppe Vezzoli, Fabio Paglialonga, Peter C. Harris, John C. Lieske

    منشور في 2016
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    Artigo
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  14. 14
    Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

    Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1 حسب Anthony J. Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd, John R. Kelsoe, Gerald A. Hladik, Philip J. Klemmer, Stephen J. Knohl, Steven J. Scheinman, Nam S. Vo, Ann Santi, Alese Harris, Omar Canaday, Nelson Weller, Peter J. Hulick, Kristen J. Vogel, Frederic F. Rahbari-Oskoui, Jennifer Tuazon, Constantinos Deltas, Douglas Somers, André Mégarbané, Paul L. Kimmel, C. John Sperati, Avi Orr‐Urtreger, Shay Ben‐Shachar, David A. Waugh, Stella McGinn, Anthony J. Bleyer, Kateřina Hodaňová, Petr Vyleťal, Martina Živná, Thomas C. Hart, P. Suzanne Hart

    منشور في 2014
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    Artigo
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  15. 15
    Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

    Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing حسب Andrew Kirby, Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James Robinson, Moran N. Cabili, Irit Gat‐Viks, Edward Kelliher, Riza M. Daza, Matthew DeFelice, Helena Hůlková, Jana Sovová, Petr Vyleťal, Corinne Antignac, Mitchell Guttman, Robert E. Handsaker, Danielle Perrin, Scott Steelman, Snævar Sigurðsson, Steven J. Scheinman, Carrie Sougnez, Kristian Cibulskis, Melissa Parkin, Todd J. Green, Elizabeth J. Rossin, Michael C. Zody, Ramnik J. Xavier, Martin R. Pollak, Seth L. Alper, Kerstin Lindblad‐Toh, Stacey B. Gabriel, P. Suzanne Hart, Aviv Regev, Chad Nusbaum, Stanislav Kmoch, Anthony J. Bleyer, Eric S. Lander, Mark J. Daly

    منشور في 2013
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    Artigo
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  16. 16
    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations حسب Graciana Jaureguiberry, Muriel De La Dure‐Molla, David Parry, Mickaël Quentric, Nina Himmerkus, Toshiyasu Koike, James A. Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie-Lucile Figueres, Horia Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Böckenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan Medlar, Isabelle Bailleul‐Forestier, Alain Verloès, Cédric Le Caignec, G. Roussey, J. Guiol, Bertrand Isidor, Clare V. Logan, Richard F. Shore, Colin A. Johnson, C.F. Inglehearn, Suhaila Al‐Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo Márcio Yamaguti, H.P.N. Safatle, Ana Carolina Acevedo, Hercílio Martelli‐Júnior, Pedro E. dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Özdemır, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch‐Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan J. Mighell, Ariane Berdal, Robert Kleta

    منشور في 2013
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    Artigo
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