Kết quả tìm kiếm - Mark Consugar

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  1. 1
    Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes

    Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes Bằng Michael H. Farkas, Gregory R. Grant, Joseph White, Maria E Sousa, Mark Consugar, Eric A. Pierce

    Được phát hành 2013
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  2. 2
    Renal Phosphate Wasting in Fibrous Dysplasia of Bone Is Part of a Generalized Renal Tubular Dysfunction Similar to That Seen in Tumor-Induced Osteomalacia

    Renal Phosphate Wasting in Fibrous Dysplasia of Bone Is Part of a Generalized Renal Tubular Dysfunction Similar to That Seen in Tumor-Induced Osteomalacia Bằng Michael T. Collins, Caroline Chebli, Janet Jones, Harvey Kushner, Mark Consugar, Piero Rinaldo, Shlomo Wientroub, Paolo Bianco, Pamela Gehron Robey

    Được phát hành 2001
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  3. 3
    A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

    A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees Bằng Sandro Rossetti, Roser Torrá, Eliécer Coto, Mark Consugar, Vickie Kubly, S Málaga, Mercedes Navarro, Mounif El‐Youssef, Vicente E. Torres, Peter C. Harris

    Được phát hành 2003
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  4. 4
    Loss of Polycystin-1 in Human Cyst-Lining Epithelia Leads to Ciliary Dysfunction

    Loss of Polycystin-1 in Human Cyst-Lining Epithelia Leads to Ciliary Dysfunction Bằng Surya M. Nauli, Sandro Rossetti, Robert J. Kolb, Francis J. Alenghat, Mark Consugar, Peter C. Harris, Donald E. Ingber, Mahmoud Loghman‐Adham, Jing Zhou

    Được phát hành 2006
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  5. 5
    Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

    Clinical and Molecular Characterization Defines a Broadened Spectrum of Autosomal Recessive Polycystic Kidney Disease (ARPKD) Bằng Magdalena Adeva, Mounif El‐Youssef, Sandro Rossetti, Patrick S. Kamath, Vickie Kubly, Mark Consugar, Dawn M. Milliner, Bernard F. King, Vicente E. Torres, Peter C. Harris

    Được phát hành 2006
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  6. 6
    Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations

    Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations Bằng Kinga M. Bujakowska, Rosario Fernández‐Godino, Emily Place, Mark Consugar, Daniel Navarro-Gomez, Joseph White, Emma Bedoukian, Xiaosong Zhu, Hongbo Xie, Xiaowu Gai, Bart P. Leroy, Eric A. Pierce

    Được phát hành 2016
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  7. 7
    A novel<i>HSD17B10</i>mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression

    A novel<i>HSD17B10</i>mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression Bằng Marni J. Falk, Xiaowu Gai, Megumi Shigematsu, Elisa Vilardo, Ryuichi Takase, Elizabeth M. McCormick, Thomas Christian, Emily Place, Eric A. Pierce, Mark Consugar, Howard Gamper, Walter Rossmanith, Ya‐Ming Hou

    Được phát hành 2016
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  8. 8
    Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

    Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease Bằng Sandro Rossetti, Vickie Kubly, Mark Consugar, Katharina Hopp, Sushmita Roy, Sharon W. Horsley, Dominique Chauveau, Lesley Rees, T M Barratt, William G. van’t Hoff, W. Patrick Niaudet, Vicente E. Torres, Peter C. Harris

    Được phát hành 2009
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  9. 9
    B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

    B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis Bằng Katharina Hopp, Christina M. Heyer, Cynthia J. Hommerding, Susan A. Henke, Jamie L. Sundsbak, Shail Patel, Priyanka Patel, Mark Consugar, Peter G. Czarnecki, Troy J. Gliem, Vicente E. Torres, Sandro Rossetti, Peter C. Harris

    Được phát hành 2011
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  10. 10
    Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease

    Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease Bằng Sandro Rossetti, Mark Consugar, Arlene B. Chapman, Vicente E. Torres, Lisa M. Guay‐Woodford, Jared J. Grantham, William M. Bennett, Catherine M. Meyers, Denise L. Walker, Kyongtae T. Bae, Qin Zhang, Paul A. Thompson, J. Philip Miller, Peter C. Harris

    Được phát hành 2007
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  11. 11
    Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

    Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing Bằng Mark Consugar, Daniel Navarro-Gomez, Emily Place, Kinga M. Bujakowska, Maria E Sousa, Zoë Fonseca-Kelly, Daniel G. Taub, Maria Janessian, Dan Yi Wang, Elizabeth D. Au, Katherine B. Sims, David A. Sweetser, Anne B. Fulton, Qin Liu, Janey L. Wiggs, Xiaowu Gai, Eric A. Pierce

    Được phát hành 2014
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  12. 12
    Cyst Number but Not the Rate of Cystic Growth Is Associated with the Mutated Gene in Autosomal Dominant Polycystic Kidney Disease

    Cyst Number but Not the Rate of Cystic Growth Is Associated with the Mutated Gene in Autosomal Dominant Polycystic Kidney Disease Bằng Peter C. Harris, Kyongtae T. Bae, Sandro Rossetti, Vicente E. Torres, Jared J. Grantham, Arlene B. Chapman, Lisa M. Guay‐Woodford, Bernard F. King, Louis H. Wetzel, Deborah A. Baumgarten, Philip J. Kenney, Mark Consugar, Saulo Klahr, William M. Bennett, Catherine M. Meyers, Qin Zhang, Paul A. Thompson, Fang Zhu, J. Philip Miller

    Được phát hành 2006
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  13. 13
    USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

    USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis Bằng Emanuele Barca, Rebecca Ganetzky, Prasanth Potluri, Martí Juanola‐Falgarona, Xiaowu Gai, Dong Li, Chaim Jalas, Yoel Hirsch, Valentina Emmanuele, Saba Tadesse, Marcello Ziosi, Hasan O. Akman, Wendy K. Chung, Kurenai Tanji, Elizabeth M. McCormick, Emily Place, Mark Consugar, Eric A. Pierce, Hákon Hákonarson, Douglas C. Wallace, Michio Hirano, Marni J. Falk

    Được phát hành 2018
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  14. 14
    Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

    Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome Bằng Mark Consugar, Wai Chong Wong, Patrick A. Lundquist, Sandro Rossetti, Vickie Kubly, Denise L. Walker, Laureano J. Rangel, Richard Aspinwall, W. Patrick Niaudet, Seza Özen, Albert David, Milen Velinov, Eric J. Bergstralh, Kyongtae T. Bae, Arlene B. Chapman, Lisa M. Guay‐Woodford, Jared J. Grantham, Vicente E. Torres, Julian R. Sampson, Brian D Dawson, Peter C. Harris, for the CRISP Consortium

    Được phát hành 2008
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  15. 15
    Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

    Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome Bằng Kinga M. Bujakowska, Qi Zhang, Anna M. Siemiatkowska, Qin Liu, Emily Place, Marni J. Falk, Mark Consugar, Marie‐Elise Lancelot, Aline Antonio, Christine Lonjou, Wassila Carpentier, Saddek Mohand‐Saïd, Anneke I. den Hollander, Frans P.M. Cremers, Bart P. Leroy, Xiaowu Gai, José‐Alain Sahel, L. Ingeborgh van den Born, Rob W.J. Collin, Christina Zeitz, Isabelle Audo, Eric A. Pierce

    Được phát hành 2014
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  16. 16
    NMNAT1 mutations cause Leber congenital amaurosis

    NMNAT1 mutations cause Leber congenital amaurosis Bằng Marni J. Falk, Qi Zhang, Eiko Nakamaru‐Ogiso, Chitra Kannabiran, Zoë Fonseca-Kelly, Christina Chakarova, Isabelle Audo, Donna S. Mackay, Christina Zeitz, Arundhati Dev Borman, Magdalena Staniszewska, Rachna Shukla, Lakshmi Palavalli, Saddek Mohand‐Saïd, Naushin Waseem, Subhadra Jalali, Juan C. Perín, Emily Place, Julian Ostrovsky, Rui Xiao, Shomi S. Bhattacharya, Mark Consugar, Andrew R. Webster, José‐Alain Sahel, Anthony T. Moore, Eliot L. Berson, Qin Liu, Xiaowu Gai, Eric A. Pierce

    Được phát hành 2012
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  17. 17
    Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

    Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy Bằng Xiaowu Gai, Daniele Ghezzi, Mark Johnson, Caroline Biagosch, Hanan E. Shamseldin, Tobias B. Haack, Aurelio Reyes, Mai Tsukikawa, Claire A. Sheldon, Satish Srinivasan, Matteo Gorza, Laura S. Kremer, Thomas Wieland, Tim M. Strom, Erzsébet Polyák, Emily Place, Mark Consugar, Julian Ostrovsky, Sara Vidoni, Alan J. Robinson, Lee-Jun Wong, Neal Sondheimer, Mustafa A. Salih, Emtethal Al-Jishi, Christopher P. Raab, Charles Bean, Francesca Furlan, Rossella Parini, Costanza Lamperti, Johannes A. Mayr, Vassiliki Konstantopoulou, Martina Huemer, Eric A. Pierce, Thomas Meitinger, Peter Freisinger, Wolfgang Sperl, Holger Prokisch, Fowzan S. Alkuraya, Marni J. Falk, Massimo Zeviani

    Được phát hành 2013
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