Výsledky vyhledávání - Parul Jayakar

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  1. 1
    Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects

    Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects Autor Lahiri, Subhrajit, Gil, Wernovsky, Daria, Salyakina, Joshua, Gruber, Parul, Jayakar, Redmond, Burke, Elizabeth, Welch

    Vydáno 2020
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  2. 2
    Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier?

    Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier? Autor Tohru Matsuura, Ping Fang, Christopher E. Pearson, Parul Jayakar, Tetsuo Ashizawa, Benjamin B. Roa, David L. Nelson

    Vydáno 2005
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  3. 3
    Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

    Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization Autor Yao‐Shan Fan, Parul Jayakar, Hongbo Zhu, Deborah Barbouth, Stephanie Sacharow, Ana Morales, Virginia Carver, Paul J. Benke, Peter Mundy, Louis J. Elsas

    Vydáno 2007
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  4. 4
    Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

    Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene Autor Belén Bornstein, Estela Area‐Gómez, Kevin M. Flanigan, Jaya Ganesh, Parul Jayakar, Kathryn J. Swoboda, Jorida Çoku, Ali Naini, Sara Shanske, Kurenai Tanji, Michio Hirano, Salvatore DiMauro

    Vydáno 2008
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  5. 5
    Recessive but damaging alleles of muscle-specific ribosomal protein gene RPL3L drive neonatal dilated cardiomyopathy

    Recessive but damaging alleles of muscle-specific ribosomal protein gene RPL3L drive neonatal dilated cardiomyopathy Autor Michael R. Murphy, Mythily Ganapathi, Teresa M. Lee, John Fisher, Maharshi Patel, Parul Jayakar, Amanda Buchanan, Rajesh K. Soni, Yin Yue, F.-Y. Yang, Muredach P. Reilly, Wendy K. Chung, Xuebing Wu

    Vydáno 2025
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  6. 6
    De novo substitutions of TRPM3 cause intellectual disability and epilepsy

    De novo substitutions of TRPM3 cause intellectual disability and epilepsy Autor David A. Dyment, Paulien A. Terhal, Cecilie F. Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan Shinawi, Sara Ellingwood, Rosemarie Smith, Koen L.I. van Gassen, Kirsty McWalter, A. Micheil Innes, Matthew A. Lines

    Vydáno 2019
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  7. 7
    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment Autor Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone, Erika Della Mina, María Clara Bonaglia, Renato Borgatti, Christian P. Schaaf, V. Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D’Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi, Paweł Stankiewicz

    Vydáno 2010
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  8. 8
    Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

    Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia Autor Elizabeth Bhoj, Dong Li, Margaret Harr, Simon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, María J. Guillen Sacoto, Karine Siquier-Pernet, Abdelkrim Saadi, Christine Bôle‐Feysot, Patrick Nitschké, Alekhya Narravula, Maria Walke, Michele B. Horner, Debra-Lynn Day-Salvatore, Parul Jayakar, Samantha A. Schrier Vergano, Mark A. Tarnopolsky, Madhuri Hegde, Laurence Colleaux, Peter B. Crino, Hákon Hákonarson

    Vydáno 2016
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  9. 9
    P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

    P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis Autor Can Fıçıcıoğlu, Nicole Muschol, Barbara K. Burton, Martin Magner, Mercedes Gil‐Campos, M. López Rodríguez, Parul Jayakar, Allan M. Lund, Galit Tal, José Elías García‐Ortíz, Karolina M. Stępień, Carolyn Ellaway, Walla Al‐Hertani, Roberto Giugliani, Sara Cathey, Julia B. Hennermann, Christina Lampe, Markey McNutt, Florian B. Lagler, Maurizio Scarpa, V. Reid Sutton, Nathalie Guffon

    Vydáno 2024
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  10. 10
    Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

    Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study Autor Nathalie Guffon, Barbara K. Burton, Can Fıçıcıoğlu, Martin Magner, Mercedes Gil‐Campos, Monica A. Lopez-Rodriguez, Parul Jayakar, Allan M. Lund, Galit Tal, José Elías García‐Ortíz, Karolina M. Stępień, Carolyn Ellaway, Walla Al‐Hertani, Roberto Giugliani, Sara Cathey, Julia B. Hennermann, Christina Lampe, Markey McNutt, Florian B. Lagler, Maurizio Scarpa, V. Reid Sutton, Nicole Muschol

    Vydáno 2024
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  11. 11
    Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

    Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy Autor Rita Horváth, John P. Kemp, Helen Tuppen, Gavin Hudson, Anders Oldfors, Suely Kazue Nagahashi Marie, A.‐R. Moslemi, Serenella Servidei, E. Holme, Sara Shanske, Gittan Kollberg, Parul Jayakar, Angela Pyle, H. M. Marks, Elke Holinski‐Feder, Mena Scavina, Maggie C. Walter, Jorida Çoku, A. Günther-Scholz, Paul Smith, Robert McFarland, Zofia M. Chrzanowska‐Lightowlers, Robert N. Lightowlers, Michio Hirano, Hanns Lochmüller, Robert W. Taylor, Patrick F. Chinnery, M. Tulinius, S. DiMauro

    Vydáno 2009
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  12. 12
    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Autor Chun‐An Chen, Daniëlle G.M. Bosch, Megan T. Cho, Jill A. Rosenfeld, Marwan Shinawi, Richard A. Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence E. Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G. Monaghan, Frances Elmslie, Ganka Douglas, F. Nienke Boonstra, Francisca Millan, Frans P.M. Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane‐Yeboa, Elfrida Malkin, Wendy K. Chung, Dmitriy Niyazov, Juan M. Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M. Hisama, Bert B.A. de Vries, Christian P. Schaaf

    Vydáno 2016
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  13. 13
    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect Autor Kyle Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Tim Sen Wang, Edda Haberlandt, Glenn Anderson, Esther Leshinsky‐Silver, Weimin Bi, Thomas C. Markello, Marsha Pratt, Nawal Makhseed, Adolfo D. Garnica, Noelle R. Danylchuk, Thomas Andrew Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine M. Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Ong, Santosh Mordekar, Michael Parker, Daniel Crooks, Pankaj B. Agrawal, Gerard T. Berry, Tobias Loddenkemper, Yaping Yang, Gustavo Maegawa, Abdel Aouacheria, Janet Markle, James A. Wohlschlegel, Adam L. Hartman, J. Marie Hardwick

    Vydáno 2018
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  14. 14
    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies Autor Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon

    Vydáno 2018
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  15. 15
    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Autor Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla S. Aggarwal, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer MacKenzie, Eva H. Brilstra, Koen L.I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen Parsons, Paul R. Mark, Ingo Helbig, Sarah McKeown, Robert F. Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T.C. Shieh, Amy Kritzer, Parul Jayakar, Evangeline C. Kurtz‐Nelson, Raphael Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M.B.H. van de Laar, Allyn McConkie‐Rosell, Marie McDonald, Jennifer L. Kemppainen, Brendan C. Lanpher, Laura Schultz‐Rogers, Lauren Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltrán, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K-G Tan, Damaris N. Lorenzo

    Vydáno 2021
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  16. 16
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 Autor Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    Vydáno 2020
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  17. 17
    Megalencephalic leukoencephalopathy with subcortical cysts

    Megalencephalic leukoencephalopathy with subcortical cysts Autor Eline M. Hamilton, Pınar Tektürk, Fia Cialdella, Diane F. van Rappard, Nicole I. Wolf, Cengiz Yalçınkaya, Ümran Çetinçelik, Ahmad Rajaee, Ariana Kariminejad, Justyna Paprocka, Zühal Yapıcı, Vlatka Mejaški Bošnjak, Marjo S. van der Knaap, Hugo Hernán Abarca-Barriga, Samer Abdelrazeq, Gül Serdaroğlu, P. Ian Andrews, Richard Appleton, Lucia Argandoña Palacios, Brenda Banwell, Florian Bauder, Gülçin Benbir Şenel, Tim A. Benke, Susan Blasér, Annette Bley, Cristiana Brenner, Knut Brockmann, Rafael Camino, Coriene E. Catsman‐Berrevoets, Yanick J. Crow, M. A. J. Scott R. Dalton, María de la Luz Arenas‐Sordo, Linda De Meırleır, Ana Isabel Dias, Francis J. DiMario, Maria Alice Donati, Nihal Olgaç Dündar, François Feillet, Maria José Fonseca, Emilio Franzoni, Jeremy L. Freeman, Katsunori Fujii, Soumya Ghosh, Scott Gold, Solange Gril, Barbara Hallinan, Ágnes Herczegfalvi, Jozef Hertecant, Joannie Hui, David Hunt, Parul Jayakar, Bülent Kara, Çiğdem Seher Kasapkara, Gülşen Kocaman, David M. Koeller, Wolfgang Köhler, Alfried Kohlschütter, Marja Koivusalo, Urania Kotzaeridou, Roshan Koul, Ingeborg Krägeloh‐Mann, Ružica Kravljanac, Gerhard Kurlemann, Julian Lara Herguedas, Silvia Laurentino, Richard J. Leventer, Bryan Lynch, Oliver Maier, Sascha Meyer, Olivera Miljanović, José Paulo Monteiro, Ellen Moran, T. Moreno, Jacques Motté, C. D. Moyes, Lakshmi Nagarajan, Marie‐Cécile Nassogne, Slavica Ostojić, P Pietsch, Iliana Porfiri, Sofia Quintas, Maria Belen Ramos, Deborah L. Renaud, Biserka Rešić, Carolina Rivera Nieto, Jutta Rummel, Robert Rusina, Mustafa A. Salih, Sabine Scholl‐Bürgi, Bitten Schönewolf‐Greulich, Snehal Shah, Suvasini Sharma, Gabriella Silvestri, Komudi Siriwardena, Victoria Mok Siu, Anne‐Bine Skytte, Zeyneb Soysal, Carlos Eduardo Speck Martins, Angela Sun, Burak Tatlı

    Vydáno 2018
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  18. 18
    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP Autor Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M.S. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, R. Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransén, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabíola Paoli Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David A. Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bézieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar

    Vydáno 2018
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