Resultats de la cerca - Steven R. DePalma

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  1. 1
    16S ribosomal RNA sequence analysis for determination of phylogenetic relationship among methylotrophs

    16S ribosomal RNA sequence analysis for determination of phylogenetic relationship among methylotrophs per K. Tsuji, H C Tsien, R S Hanson, Steven R. DePalma, R. Scholtz, Sandrine Laroche

    Publicat 1990
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  2. 2
    Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35

    Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35 per Fayez Bahmad, Steven R. DePalma, Saumil N. Merchant, Roberta Lemos Bezerra, Carlos Augusto Costa Pires de Oliveira, Christine E. Seidman, Jonathan G. Seidman

    Publicat 2009
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  3. 3
    Spectrum of somatic mitochondrial mutations in five cancers

    Spectrum of somatic mitochondrial mutations in five cancers per Tatianna Larman, Steven R. DePalma, Angela Hadjipanayis, Alexei Protopopov, Jianhua Zhang, Stacey Gabriel, Lynda Chin, Christine E. Seidman, Raju Kucherlapati, Jonathan G. Seidman

    Publicat 2012
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  4. 4
    NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity

    NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity per Ossama Abou Hassan, Akl C. Fahed, Manal Batrawi, Mariam Arabi, Marwan M. Refaat, Steven R. DePalma, Jonathan G. Seidman, Christine E. Seidman, Fadi Bitar, Georges Nemer

    Publicat 2015
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  5. 5
    A Nonsense Mutation in MSX1 Causes Witkop Syndrome

    A Nonsense Mutation in MSX1 Causes Witkop Syndrome per Dolrudee Jumlongras, Marianna Bei, Jean M. Stimson, Wen-Fang Wang, Steven R. DePalma, Christine E. Seidman, Ute Felbor, Richard L. Maas, Jonathan G. Seidman, Bjørn R. Olsen

    Publicat 2001
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  6. 6
    Molecular profiling of dilated cardiomyopathy that progresses to heart failure

    Molecular profiling of dilated cardiomyopathy that progresses to heart failure per Michael A. Burke, Stephen Chang, Hiroko Wakimoto, Joshua M. Gorham, David A. Conner, Danos C. Christodoulou, Michael Parfenov, Steven R. DePalma, Seda Eminaga, Tetsuo Konno, Jonathan G. Seidman, Christine E. Seidman

    Publicat 2016
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  7. 7
    A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

    A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders per Robert Gensure, Outi Mäkitie, Catherine Barclay, Catherine Chan, Steven R. DePalma, Murat Bastepe, H. Abuzahra, Richard Couper, Stefan Mundlos, David Sillence, Leena Ala Kokko, Jonathan G. Seidman, William G. Cole, Harald Jüppner

    Publicat 2005
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  8. 8
    Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing

    Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing per Kaoru Ito, Parth Patel, Joshua M. Gorham, Barbara McDonough, Steven R. DePalma, Emily E. Adler, Lien Lam, Calum A. MacRae, Syed M. Mohiuddin, Diane Fatkin, Christine E. Seidman, J G Seidman

    Publicat 2017
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  9. 9
    <scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

    <scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss per Kerry K. Brown, Lucas Moura Viana, Cecilia C. Helwig, Maria A. Artunduaga, Lourdes Quintanilla‐Dieck, Patricia Jarrin, Gabriel Osorno, Barbara McDonough, Steven R. DePalma, Roland D. Eavey, Jonathan G. Seidman, Christine E. Seidman

    Publicat 2013
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  10. 10
    Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

    Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation per Radhika Agarwal, João A. Paulo, Christopher N. Toepfer, Jourdan K. Ewoldt, Subramanian Sundaram, Anant Chopra, Qi Zhang, Joshua M. Gorham, Steven R. DePalma, Christopher S. Chen, Steven P. Gygi, Christine E. Seidman, Jonathan G. Seidman

    Publicat 2021
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  11. 11
    Pathogenesis of Cardiomyopathy Caused by Variants in <i>ALPK3</i> , an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere

    Pathogenesis of Cardiomyopathy Caused by Variants in <i>ALPK3</i> , an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere per Radhika Agarwal, Hiroko Wakimoto, João A. Paulo, Qi Zhang, Daniel Reichart, Christopher N. Toepfer, Arun Sharma, Angela C. Tai, Mingyue Lun, Joshua M. Gorham, Steven R. DePalma, Steven P. Gygi, Jonathan G. Seidman, Christine E. Seidman

    Publicat 2022
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  12. 12
    Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

    Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy per Mitsuhiro Kamisago, Sapna Sharma, Steven R. DePalma, Scott D. Solomon, Pankaj Sharma, Barbara McDonough, Leslie Smoot, Mary P. Mullen, Paul K. Woolf, E. Douglas Wigle, J G Seidman, John A. Jarcho, Lawrence R. Shapiro, Christine E. Seidman

    Publicat 2000
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  13. 13
    Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation

    Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation per Neal K. Lakdawala, Lisa Dellefave, Charles Redwood, Elizabeth Sparks, Allison L. Cirino, Steven R. DePalma, Steven D. Colan, Birgit Funke, Rebekah Zimmerman, Paul Robinson, Hugh Watkins, Christine E. Seidman, Jonathan G. Seidman, Elizabeth M. McNally, Carolyn Y. Ho

    Publicat 2010
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  14. 14
    Discordant clinical features of identical hypertrophic cardiomyopathy twins

    Discordant clinical features of identical hypertrophic cardiomyopathy twins per Giuliana G. Repetti, Yuri Kim, Alexandre C. Pereira, Jodie Ingles, Mark W. Russell, Neal K. Lakdawala, Carolyn Y. Ho, Sharlene M. Day, Christopher Semsarian, Barbara McDonough, Steven R. DePalma, Daniel Quiat, Eric M. Green, Christine E. Seidman, Jonathan G. Seidman

    Publicat 2021
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  15. 15
    Loss of RNA expression and allele-specific expression associated with congenital heart disease

    Loss of RNA expression and allele-specific expression associated with congenital heart disease per David McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua M. Gorham, Steven R. DePalma, James S. Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P. Lifton, Wendy K. Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J. Sharp, Christine E. Seidman, Bruce D. Gelb

    Publicat 2016
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  16. 16
    Increased Burden of Cardiovascular Disease in Carriers of <i>APOL1</i> Genetic Variants

    Increased Burden of Cardiovascular Disease in Carriers of <i>APOL1</i> Genetic Variants per Kaoru Ito, Alexander G. Bick, Jason Flannick, David J. Friedman, Giulio Genovese, Michael Parfenov, Steven R. DePalma, Namrata Gupta, Stacey Gabriel, Herman A. Taylor, Ervin R. Fox, Christopher Newton‐Cheh, Sekar Kathiresan, Joel N. Hirschhorn, David Altshuler, Martin R. Pollak, James G. Wilson, Jonathan G. Seidman, Christine E. Seidman

    Publicat 2013
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  17. 17
    5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy

    5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy per Danos C. Christodoulou, Hiroko Wakimoto, Kenji Onoue, Seda Eminaga, Joshua M. Gorham, Steven R. DePalma, Daniel S. Herman, Polakit Teekakirikul, David A. Conner, David McKean, Andrea A. Domenighetti, Anton Aboukhalil, Stephen Chang, Gyan Srivastava, Barbara McDonough, Philip L. De Jager, Ju Chen, Martha L. Bulyk, Jochen D. Muehlschlegel, Christine E. Seidman, J G Seidman

    Publicat 2014
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  18. 18
    <i>THSD1</i> (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

    <i>THSD1</i> (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage per Teresa Santiago‐Sim, Xiaoqian Fang, Morgan L. Hennessy, Stephen V. Nalbach, Steven R. DePalma, Ming Sum Lee, Steven C. Greenway, Barbara McDonough, Georgene W. Hergenroeder, Kyla Patek, Sarah M. Colosimo, Krista J. Qualmann, John P. Hagan, Dianna M. Milewicz, Calum A. MacRae, Susan M. Dymecki, Christine E. Seidman, J.G. Seidman, Dong Kim

    Publicat 2016
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  19. 19
    An ancient founder mutation located between<i>ROBO1</i>and<i>ROBO2</i>is responsible for increased microtia risk in Amerindigenous populations

    An ancient founder mutation located between<i>ROBO1</i>and<i>ROBO2</i>is responsible for increased microtia risk in Amerindigenous populations per Daniel Quiat, Seong Won Kim, Qi Zhang, Sarah U. Morton, Alexandre C. Pereira, Steven R. DePalma, Jon A. L. Willcox, Barbara McDonough, Daniel M. DeLaughter, Joshua M. Gorham, Justin J. Curran, Melissa Tumblin, Yamileth Nicolau, Maria A. Artunduaga, Lourdes Quintanilla‐Dieck, Gabriel Osorno, Luís Serrano, Usama S. Hamdan, Roland D. Eavey, Christine E. Seidman, Jonathan G. Seidman

    Publicat 2022
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  20. 20
    Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

    Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts per Alexander G. Bick, Jason Flannick, Kaoru Ito, Susan Cheng, Ramachandran S. Vasan, Michael Parfenov, Daniel S. Herman, Steven R. DePalma, Namrata Gupta, Stacey Gabriel, Birgit H. Funke, Heidi L. Rehm, Emelia J. Benjamin, Jayashri Aragam, Herman A. Taylor, Ervin R. Fox, Christopher Newton‐Cheh, Sekar Kathiresan, Christopher J. O’Donnell, James Wilson, David Altshuler, Joel N. Hirschhorn, J G Seidman, Christine E. Seidman

    Publicat 2012
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