檢索結果 - Luis Escobar

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  1. 1
    Prevalência de parasitoses intestinais em crianças do Parque Indígena do Xingu

    Prevalência de parasitoses intestinais em crianças do Parque Indígena do Xingu 由 Mario Luis Escobar-Pardo, Anita Paula Ortiz de Godoy, Rodrigo Strehl Machado, Douglas Rodrigues, Ulysses Fagundes Neto, Elisabete Kawakami

    出版 2010
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  2. 2
    Prevalence of Helicobacter pylori infection and intestinal parasitosis in children of the Xingu Indian Reservation

    Prevalence of Helicobacter pylori infection and intestinal parasitosis in children of the Xingu Indian Reservation 由 Mario Luis Escobar-Pardo, Anita Paula Ortiz de Godoy, Rodrigo Strehl Machado, Douglas Rodrigues, Ulysses Fagundes Neto, Elisabete Kawakami

    出版 2011
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  3. 3
    Diagnostic utility of microarray testing in pregnancy loss

    Diagnostic utility of microarray testing in pregnancy loss 由 Jill A. Rosenfeld, MIRIAM E. TUCKER, Luis Escobar, Nicholas J. Neill, Beth S. Torchia, L. D. McDaniel, Ronald Schultz, Karen Chong, David Chitayat

    出版 2015
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  4. 4
    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders 由 Sandesh C.S. Nagamani, Ayelet Erez, Bruria Ben‐Zeev, Moshe Frydman, Susan Winter, Robert S. Zeller, Dima El‐Khechen, Luis Escobar, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

    出版 2012
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  5. 5
    Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes

    Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes 由 Brittany N. Whitley, Christina Lam, Hong Cui, Katrina Haude, Renkui Bai, Luis Escobar, Afifa Hamilton, Lauren Brady, Mark A. Tarnopolsky, Lauren Dengle, Jonathan Picker, Sharyn A. Lincoln, Laura L. Lackner, Ian Glass, Suzanne Hoppins

    出版 2018
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  6. 6
    Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

    Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication 由 Blake C. Ballif, Aaron Theisen, Justine Coppinger, Gordon C. Gowans, Joseph H. Hersh, Suneeta Madan‐Khetarpal, Karen Russell Schmidt, Raymond C. Tervo, Luis Escobar, Christopher A. Friedrich, Marie McDonald, Lindsey Campbell, Jeffrey E. Ming, Elaine H. Zackai, Bassem A. Bejjani, Lisa G. Shaffer

    出版 2008
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  7. 7
    Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences

    Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences 由 Job A.J. Verdonschot, Marco Merlo, Fernándo Domínguez, Ping Wang, Michiel T.H.M. Henkens, Michiel Adriaens, Mark R. Hazebroek, Marco Masè, Luis Escobar-López, Rafael Cobas Paz, Kasper Derks, Arthur van den Wijngaard, Ingrid P.C. Krapels, Han G. Brunner, Gianfranco Sinagra, Pablo García‐Pavía, Stéphane Heymans

    出版 2020
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  8. 8
    Prognosis of Transthyretin Cardiac Amyloidosis Without Heart Failure Symptoms

    Prognosis of Transthyretin Cardiac Amyloidosis Without Heart Failure Symptoms 由 Esther González-López, Luis Escobar-López, Laura Obici, Giulia Saturi, Mélanie Bezard, Sunil E. Saith, Omar F. AbouEzzeddine, Roberta Mussinelli, Christian Gagliardi, Mounira Kharoubi, Jan M. Griffin, Angela Dispenzieri, Silvia Vilches, Stefano Perlini, Simone Longhi, Silvia Oghina, Adrian Rivas, Martha Grogan, Mathew S. Maurer, Thibaud Damy, Giovanni Palladini, Claudio Rapezzi, Pablo García‐Pavía

    出版 2022
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  9. 9
    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization 由 Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader, Luis Escobar, Dima El‐Khechen, Stephanie E. Vallee, Mary Beth Dinulos, Cynthia J. Curry, Jamie Fisher, Raymond C. Tervo, Mark C. Hannibal, Kiana Siefkas, Philip Wyatt, Lauren S. Hughes, Rosemarie Smith, Sara Ellingwood, Yves Lacassie, Tracy Stroud, Sandra A. Farrell, Pedro A. Sanchez‐Lara, Linda M. Randolph, Dmitriy Niyazov, Cathy A. Stevens, Cheri Schoonveld, David Skidmore, Sara MacKay, Judith H. Miles, Manikum Moodley, Adam Huillet, Nicholas J. Neill, Jay W. Ellison, Blake C. Ballif, Lisa G. Shaffer

    出版 2013
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  10. 10
    Cohesin complex-associated holoprosencephaly

    Cohesin complex-associated holoprosencephaly 由 Paul Kruszka, Seth Berger, Valentina Casà, Mike R. Dekker, Jenna Gaesser, Karin Weiss, Ariel F. Martinez, David R. Murdock, Raymond J. Louie, Eloise J. Prijoles, Angie Lichty, Oebele F. Brouwer, Evelien Zonneveld‐Huijssoon, Mark J. Stephan, Jacob S. Hogue, Ping Hu, Momoko Tanima-Nagai, Joshua L. Everson, Chitra Prasad, Anna Cereda, Maria Iascone, Allison Schreiber, Vickie Zurcher, Nicole Corsten‐Janssen, Luis Escobar, Nancy J. Clegg, Mauricio R. Delgado, Omkar Hajirnis, Meena Balasubramanian, Hülya Kayserili, Matthew A. Deardorff, Raymond A. Poot, Kerstin S. Wendt, Robert J. Lipinski, Maximilian Muenke

    出版 2019
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  11. 11
    Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non‐ischaemic dilated cardiomyopathy

    Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non‐ischaemic dilated cardiomyopathy 由 Jesús G. Mirelis, Luis Escobar-López, Juan Pablo Ochoa, María Ángeles Espinosa, Eduardo Villacorta, Marina Navarro Peñalver, Guillem Casas, Nerea Mora Ayestarán, Roberto Barriales‐Villa, María Victoria Mogollón‐Jiménez, José Manuel García‐Pinilla, Pablo Elpidio García-Granja, Vicente Climent, Julián Palomino-Doza, Ana García‐Álvarez, María Álvarez‐Barredo, Eva Cabrera‐Borrego, Tomás Ripoll‐Vera, María Luisa Peña‐Peña, Elena Rodríguez‐González, María Gallego‐Delgado, Josefa González‐Carrillo, Ana I. Fernández, José F. Rodríguez‐Palomares, Ramón Brugada, Antoni Bayés‐Genís, Fernándo Domínguez, Pablo García‐Pavía

    出版 2022
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  12. 12
    ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

    ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity 由 Hiromi Hirata, Indrajit Nanda, Anne van Riesen, G. McMichael, Hao Hu, M Hambrock, Marie-Amélie Papon, Ute Fischer, Sylviane Marouillat, Can Ding, Servane Alirol, Melanie Bienek, Sabine Preisler-Adams, Astrid Grimme, Dominik Seelow, Richard Webster, Eric Haan, Alastair H. MacLennan, Werner Stenzel, Tzu Ying Yap, Alison Gardner, Lam Son Nguyen, Marie Shaw, Nicolas Lebrun, Stefan A. Haas, Wolfram Kreß, Thomas Haaf, Elke Schellenberger, Jamel Chelly, Géraldine Viot, Lisa G. Shaffer, Jill A. Rosenfeld, Nancy Kramer, Rena E. Falk, Dima El‐Khechen, Luis Escobar, Raoul C. M. Hennekam, Peter Wieacker, Christoph Hübner, Hans‐Hilger Ropers, Jozef Gécz, Markus Schuelke, Frédéric Laumonnier, Vera M. Kalscheuer

    出版 2013
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  13. 13
    Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

    Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants 由 Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A. Filipink, Juliann McConnell, Brad Angle, Wendy S. Meschino, Marjan M. Nezarati, Alexander Asamoah, Kelly E. Jackson, Gordon C. Gowans, Judith A. Martin, Erin P. Carmany, David W. Stockton, Rhonda E. Schnur, Lynette S. Penney, Donna M. Martin, Salmo Raskin, Kathleen A. Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M. Niyazov, Luis Escobar, Dima El‐Khechen, Kisha Johnson, Robert Roger Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K. Brasington, J. Edward Spence, Laura Martin, Carol L. Clericuzio, Blake C. Ballif, Lisa G. Shaffer, Evan E. Eichler

    出版 2012
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  14. 14
    Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

    Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy 由 Luis Escobar-López, Juan Pablo Ochoa, Ana Royuela, Job A.J. Verdonschot, Matteo Dal Ferro, María Ángeles Espinosa, María Sabater‐Molina, María Gallego‐Delgado, José M. Larrañaga‐Moreira, José Manuel García‐Pinilla, María Teresa Basurte-Elorz, José F. Rodríguez‐Palomares, Vicente Climent, Francisco Bermúdez-Jiménez, María Victoria Mogollón‐Jiménez, Javier López, María Luisa Peña‐Peña, Ana García‐Álvarez, Bernardo López-Abel, Tomás Ripoll‐Vera, Julián Palomino-Doza, Antoni Bayés‐Genís, Ramón Brugada, Uxua Idiazabal, Jesús G. Mirelis, Fernándo Domínguez, Michiel T.H.M. Henkens, Ingrid P.C. Krapels, Han G. Brunner, Alessia Paldino, Denise Zaffalon, Luisa Mestroni, Gianfranco Sinagra, Stéphane Heymans, Marco Merlo, Pablo García‐Pavía

    出版 2022
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  15. 15
    Reanalysis of Clinical Exome Sequencing Data

    Reanalysis of Clinical Exome Sequencing Data 由 Pengfei Liu, Linyan Meng, Elizabeth A. Normand, Fan Xia, Xiaofei Song, Andrew R. Ghazi, Jill A. Rosenfeld, Pilar Magoulas, Alicia Braxton, Patricia A. Ward, Hongzheng Dai, Bo Yuan, Weimin Bi, Rui Xiao, Xia Wang, Theodore Chiang, Francesco Vetrini, Weimin He, Hanyin Cheng, Jie Dong, Charul Gijavanekar, Paul J. Benke, Jonathan A. Bernstein, Tanya N. Eble, Yasemen Eroğlu, Deanna Erwin, Luis Escobar, James B. Gibson, Karen W. Gripp, Soledad Kleppe, Mary Kay Koenig, Andrea M. Lewis, Marvin R. Natowicz, Pedro Mancías, LaKeesha Minor, Fernando Scaglia, Christian P. Schaaf, Haley Streff, Hilary J. Vernon, Crescenda L Uhles, Elaine H. Zackai, Nan Wu, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Seema R. Lalani, Chad A. Shaw, Christine M. Eng, James R. Lupski, Yaping Yang

    出版 2019
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  16. 16
    Alpha-protein kinase 3 (<i>ALPK3</i>) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

    Alpha-protein kinase 3 (<i>ALPK3</i>) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy 由 Luís R. Lopes, Soledad García-Hernández, Massimiliano Lorenzini, Marta Futema, О. С. Чумакова, D. A. Zateyshchikov, María Isidoro‐García, Eduardo Villacorta, Luis Escobar-López, Pablo García‐Pavía, R.M. Bilbao, David Dobarro, María Sandín‐Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Robles Mezcua, Jose Garcia Pinilla, Torsten B. Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Martí, María Teresa Basurte Elorz, Alicia Bautista Pavés, Juan R. Gimeno, Ana Virginia Figueroa, Raúl Franco‐Gutiérrez, María Eugenia Fuentes‐Cañamero, Marina Martínez Moreno, Martín Ortiz-Genga, Jesús Piqueras‐Flores, Karina Analía Ramos, Ainārs Rudzītis, Luis Ruiz‐Guerrero, Ricardo Stein, Mayte Triguero-Bocharán, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y T Kwok, Jacob Smith, Enzo R. Porrello, Mohammed Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A. Elliott, Lorenzo Monserrat, Perry Elliott

    出版 2021
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  17. 17
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies 由 Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    出版 2019
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  18. 18
    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 由 Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane McCarthy, Carl Baker, Heather C. Mefford, Jeffrey M. Kidd, Sharon R. Browning, Brian L. Browning, Diane E. Dickel, Deborah L. Levy, Blake C. Ballif, Kathryn Platky, Darren Farber, Gordon C. Gowans, Jessica J Wetherbee, Alexander Asamoah, David D. Weaver, Paul R. Mark, Jennifer A. Dickerson, Bhuwan P. Garg, Sara Ellingwood, Rosemarie Smith, Valerie Banks, Wendy E. Smith, Marie McDonald, Joe J. Hoo, Beatrice N. French, Cindy Hudson, John P. Johnson, Jillian R. Ozmore, John B. Moeschler, Urvashi Surti, Luis Escobar, Dima El‐Khechen, Jerome L. Gorski, Jennifer Kussmann, Bonnie Anne Salbert, Yves Lacassie, Alisha Biser, Donna M. McDonald‐McGinn, Elaine H. Zackai, Matthew A. Deardorff, Tamim H. Shaikh, Eric Haan, Kathryn Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E. DeLisi, Jonathan Sebat, Mary‐Claire King, Lisa G. Shaffer, Evan E. Eichler

    出版 2010
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  19. 19
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... 由 Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen

    出版 2015
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  20. 20
    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 由 Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Saga Elise Eiset, Luis Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Paul R. Mark, Marcelo Rodrigues Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones

    出版 2019
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