Výsledky vyhledávání - Michael W. Pauciulo

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  1. 1
    Racial and ethnic differences in pulmonary arterial hypertension

    Racial and ethnic differences in pulmonary arterial hypertension Autor Nadine Al‐Naamani, Jessica K. Paulus, Kari E. Roberts, Michael W. Pauciulo, Katie A. Lutz, William C. Nichols, Steven M. Kawut

    Vydáno 2017
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  2. 2
    <i>Parkin</i> dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

    <i>Parkin</i> dosage mutations have greater pathogenicity in familial PD than simple sequence mutations Autor Nathan Pankratz, Diane Kissell, Michael W. Pauciulo, C. A. Halter, Alice Rudolph, Ronald F. Pfeiffer, Karen Marder, Tatiana Foroud, William C. Nichols

    Vydáno 2009
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  3. 3
    Mutations in <i>GBA</i> are associated with familial Parkinson disease susceptibility and age at onset

    Mutations in <i>GBA</i> are associated with familial Parkinson disease susceptibility and age at onset Autor William C. Nichols, Nathan Pankratz, D. K. Marek, Michael W. Pauciulo, Veronika E. Elsaesser, C. A. Halter, A. Rudolph, J. Wojcieszek, R. F. Pfeiffer, Tatiana Foroud

    Vydáno 2008
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  4. 4
    High levels of placenta growth factor in sickle cell disease promote pulmonary hypertension

    High levels of placenta growth factor in sickle cell disease promote pulmonary hypertension Autor Nambirajan Sundaram, Anitaben Tailor, Laurel Mendelsohn, Janaka Wansapura, Xunde Wang, Tomoyasu Higashimoto, Michael W. Pauciulo, William Gottliebson, Vijay K. Kalra, William C. Nichols, Gregory J. Kato, Punam Malik

    Vydáno 2010
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  5. 5
    High Frequency of <i>BMPR2</i> Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension

    High Frequency of <i>BMPR2</i> Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension Autor Joy D. Cogan, Michael W. Pauciulo, Amy P. Batchman, Melissa Prince, Ivan M. Robbins, Lora K. Hedges, Krista C. Stanton, Lisa Wheeler, John A. Phillips, James E. Loyd, William C. Nichols

    Vydáno 2006
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  6. 6
    Frequency of <i>GBA</i> Variants in Autopsy‐proven Multiple System Atrophy

    Frequency of <i>GBA</i> Variants in Autopsy‐proven Multiple System Atrophy Autor Miriam Sklerov, Un Jung Kang, Christopher Liong, Lorraine N. Clark, Karen Marder, Michael W. Pauciulo, William C. Nichols, Wendy K. Chung, Lawrence S. Honig, Etty Cortés, Jean Paul Vonsattel, Roy N. Alcalay

    Vydáno 2017
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  7. 7
    Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease and<i>GBA</i>Heterozygotes

    Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease and<i>GBA</i>Heterozygotes Autor Roy N. Alcalay, Tama Dinur, Timothy J. Quinn, Karina Sakanaka, Oren Levy, Cheryl Waters, Stanley Fahn, Tsvyatko Dorovski, Wendy K. Chung, Michael W. Pauciulo, William C. Nichols, Huma Q. Rana, Manisha Balwani, Louise Bier, Deborah Elstein, Ari Zimran

    Vydáno 2014
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  8. 8
    Glucocerebrosidase activity in Parkinson’s disease with and without<i>GBA</i>mutations

    Glucocerebrosidase activity in Parkinson’s disease with and without<i>GBA</i>mutations Autor Roy N. Alcalay, Oren Levy, Cheryl Waters, Stanley Fahn, Blair Ford, Sheng‐Han Kuo, Pietro Mazzoni, Michael W. Pauciulo, William C. Nichols, Ziv Gan‐Or, Guy A. Rouleau, Wendy K. Chung, Pavlina Wolf, Petra Oliva, Joan Keutzer, Karen Marder, Xiaokui Zhang

    Vydáno 2015
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  9. 9
    Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

    Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension Autor Na Zhu, Michael W. Pauciulo, Carrie L. Welch, Katie A. Lutz, Anna W. Coleman, Claudia Gonzaga‐Jauregui, Jiayao Wang, Joseph M. Grimes, Lisa J. Martin, Hua He, Pah Biobank Enrolling Centers’ Investigators, Yufeng Shen, Wendy K. Chung, William C. Nichols

    Vydáno 2019
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  10. 10
    Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

    Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia Autor Richard C. Trembath, Jennifer R. Thomson, Rajiv D. Machado, Neil V. Morgan, Carl Atkinson, Ingrid Winship, Gérald Simonneau, Nazzareno Galiè, James E. Loyd, Marc Humbert, William C. Nichols, Jonathan Berg, Alessandra Manes, Julie McGaughran, Michael W. Pauciulo, Lisa Wheeler, Nicholas W. Morrell

    Vydáno 2001
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  11. 11
    Cellular sources of interleukin-6 and associations with clinical phenotypes and outcomes in pulmonary arterial hypertension

    Cellular sources of interleukin-6 and associations with clinical phenotypes and outcomes in pulmonary arterial hypertension Autor Catherine E. Simpson, Jenny Y. Chen, Rachel L. Damico, Paul M. Hassoun, Lisa J. Martin, Jun Yang, Melanie Nies, Megan Griffiths, Dhananjay Vaidya, Stephanie Brandal, Michael W. Pauciulo, Katie A. Lutz, Anna W. Coleman, Eric D. Austin, D. Dunbar Ivy, William C. Nichols, Allen D. Everett

    Vydáno 2020
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  12. 12
    Alpha galactosidase A activity in Parkinson's disease

    Alpha galactosidase A activity in Parkinson's disease Autor Roy N. Alcalay, Pavlina Wolf, Oren Levy, Un Jung Kang, Cheryl Waters, Stanley Fahn, B. Ford, Sheng‐Han Kuo, Nora Vanegas, Harsh N. Shah, Christopher Liong, Sushma Narayan, Michael W. Pauciulo, William C. Nichols, Ziv Gan‐Or, Guy A. Rouleau, Wendy K. Chung, Petra Oliva, Joan Keutzer, Karen Marder, X.K. Zhang

    Vydáno 2018
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  13. 13
    Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults

    Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults Autor Na Zhu, Claudia Gonzaga‐Jauregui, Carrie L. Welch, Lijiang Ma, Hongjian Qi, Alejandra King, Usha Krishnan, Erika B. Rosenzweig, D. Dunbar Ivy, Eric D. Austin, Rizwan Hamid, William C. Nichols, Michael W. Pauciulo, Katie A. Lutz, Ashley Sawle, Jeffrey G. Reid, John D. Overton, Aris Baras, Frederick E. Dewey, Yufeng Shen, Wendy K. Chung

    Vydáno 2018
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  14. 14
    Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

    Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease Autor Na Zhu, Carrie L. Welch, Jiayao Wang, Philip M. Allen, Claudia Gonzaga‐Jauregui, Lijiang Ma, Alejandra King, Usha Krishnan, Erika B. Rosenzweig, D. Dunbar Ivy, Eric D. Austin, Rizwan Hamid, Michael W. Pauciulo, Katie A. Lutz, William C. Nichols, Jeffrey G. Reid, John D. Overton, Aris Baras, Frederick E. Dewey, Yufeng Shen, Wendy K. Chung

    Vydáno 2018
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  15. 15
    Phenotype characterisation of <i>TBX4</i> mutation and deletion carriers with neonatal and paediatric pulmonary hypertension

    Phenotype characterisation of <i>TBX4</i> mutation and deletion carriers with neonatal and paediatric pulmonary hypertension Autor Csaba Galambos, Mary P. Mullen, Joseph T.C. Shieh, Nicolaus Schwerk, Matthew J. Kielt, Nicola Ullmann, Renata Boldrini, Irena Stucin-Gantar, Cristina Haass, Manish Bansal, Pankaj B. Agrawal, Joyce Johnson, Donatella Peca, Cecilia Surace, Renato Cutrera, Michael W. Pauciulo, William C. Nichols, Matthias Griese, D. Dunbar Ivy, Steven H. Abman, Eric D. Austin, Olivier Danhaive

    Vydáno 2019
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  16. 16
    Novel Mutations and Decreased Expression of the Epigenetic Regulator <i>TET2</i> in Pulmonary Arterial Hypertension

    Novel Mutations and Decreased Expression of the Epigenetic Regulator <i>TET2</i> in Pulmonary Arterial Hypertension Autor François Potus, Michael W. Pauciulo, Elina K. Cook, Na Zhu, Alexander Hsieh, Carrie L. Welch, Yufeng Shen, Lian Tian, Patricia Lima, Jeffrey Mewburn, Christine L. D’Arsigny, Katie A. Lutz, Anna W. Coleman, Rachel L. Damico, Brooke Snetsinger, Ashley Martin, Paul M. Hassoun, William C. Nichols, Wendy K. Chung, Michael J. Rauh, Stephen L. Archer

    Vydáno 2020
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  17. 17
    BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

    BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension Autor Rajiv D. Machado, Michael W. Pauciulo, Jennifer R. Thomson, Kirk B. Lane, Neil V. Morgan, Lisa Wheeler, John A. Phillips, John H. Newman, Denise Williams, Nazzareno Galiè, Alessandra Manes, Keith McNeil, Magdi H. Yacoub, Ghada Mikhail, Paula Rogers, Paul A. Corris, Marc Humbert, Dian Donnai, Gunnar Mårtensson, Lisbeth Tranebjærg, James E. Loyd, Richard C. Trembath, William C. Nichols

    Vydáno 2001
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  18. 18
    SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics

    SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics Autor Shreya Sangam, Xutong Sun, Tae‐Hwi Schwantes‐An, Manivannan Yegambaram, Qing Lü, Yinan Shi, Todd Cook, Amanda Fisher, Andrea L. Frump, Anna W. Coleman, Yanan Sun, Shuxin Liang, Howard C. Crawford, Katie A. Lutz, Avinash D. Maun, Michael W. Pauciulo, Jason H. Karnes, Ketul R. Chaudhary, Duncan J. Stewart, Paul R. Langlais, Mohit Jain, Mona Alotaibi, Tim Lahm, Yan Jin, Haiwei Gu, Haiyang Tang, William C. Nichols, Stephen M. Black, Ankit A. Desai

    Vydáno 2023
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  19. 19
    Cognitive and Motor Function in Long-Duration<i>PARKIN</i>-Associated Parkinson Disease

    Cognitive and Motor Function in Long-Duration<i>PARKIN</i>-Associated Parkinson Disease Autor Roy N. Alcalay, Elise Caccappolo, Helen Mejia‐Santana, Ming Tang, Llency Rosado, Martha Orbe Reilly, Dylanis Lopez Ruiz, Elan D. Louis, Cynthia L. Comella, Martha Nance, Susan Bressman, William K. Scott, Caroline M. Tanner, Susan F. Mickel, Cheryl Waters, Stanley Fahn, Lucien Côté, Steven J. Frucht, Blair Ford, Michael Rezak, Kevin Novak, Joseph H. Friedman, Ronald F. Pfeiffer, Laura Marsh, Bradley C. Hiner, Haydeh Payami, Eric Molho, Stewart A. Factor, John G. Nutt, Carmen Serrano, Maritza Arroyo, Ruth Ottman, Michael W. Pauciulo, William C. Nichols, Lorraine N. Clark, Karen Marder

    Vydáno 2013
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  20. 20
    Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension

    Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension Autor Mark Toshner, Colin Church, Lars Harbaum, Christopher J. Rhodes, Sofia S. Villar Moreschi, James Liley, R. Jones, Amit Arora, Ken Batai, Ankit A. Desai, Gerry Coghlan, J. Simon R. Gibbs, Dee Gor, Stefan Gräf, Louise Harlow, Jules Hernández‐Sánchez, Luke Howard, Marc Humbert, Jason H. Karnes, David G. Kiely, Rick A. Kittles, Emily Knightbridge, Brian Lam, Katie A. Lutz, William C. Nichols, Michael W. Pauciulo, Joanna Pepke‐Żaba, Jay Suntharalingam, Florent Soubrier, Richard C. Trembath, Tae‐Hwi Schwantes‐An, Stephen J. Wort, Martin R. Wilkins, Seán Gaine, Nicholas W. Morrell, Paul A. Corris

    Vydáno 2021
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