Resultados da pesquisa - Fabiola Quintero‐Rivera

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  1. 1
    American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

    American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants Por Hutton M. Kearney, Erik C. Thorland, Kerry K. Brown, Fabiola Quintero‐Rivera, Sarah T. South

    Publicado em 2011
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  2. 2
    Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

    Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical... Por Dena R. Matalon, Cinthya Zepeda‐Mendoza, Mahmoud Aarabi, Kaitlyn Brown, Stephanie M. Fullerton, Shagun Kaur, Fabiola Quintero‐Rivera, Matteo Vatta

    Publicado em 2023
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  3. 3
    De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

    De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing Por Samuel P. Strom, Reymundo Lozano, Hane Lee, Naghmeh Dorrani, John Mann, Patricia O'Lague, Nicole Mans, Joshua L. Deignan, Éric Vilain, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

    Publicado em 2014
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  4. 4
    Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

    Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia Por Brent L. Fogel, Hane Lee, Joshua L. Deignan, Samuel P. Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero‐Rivera, Éric Vilain, Wayne W. Grody, Susan Perlman, Daniel H. Geschwind, Stanley F. Nelson

    Publicado em 2014
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  5. 5
    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Por Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary Willis, Colleen Macmurdo, Melanie A. Manning, Andrea Kwan, Louanne Hudgins, Florian Barthélémy, M. Carrie Miceli, Fabiola Quintero‐Rivera, Sibel Kantarci, Samuel P. Strom, Joshua L. Deignan, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

    Publicado em 2015
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  6. 6
    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

    Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases Por Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo, Martin A. Mensah, Björn Fischer‐Zirnsak, Manuel Holtgrewe, Marius-Konstantin Klever, Seval Türkmen, Verena Heinrich, Ilina D. Pluym, Eunice Matoso, Sérgio B. Sousa, Pedro Louro, Wiebke Hülsemann, Monika Cohen, Andreas Dufke, Anna Latos‐Bieleńska, Martin Vingron, Vera M. Kalscheuer, Fabiola Quintero‐Rivera, Malte Spielmann, Stefan Mundlos

    Publicado em 2020
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  7. 7
    MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

    MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus Por Fabiola Quintero‐Rivera, Qiongchao Xi, Kim M. Keppler‐Noreuil, Ji Hyun Lee, Anne W. Higgins, Raymond M. Anchan, Amy E. Roberts, Ihn Sik Seong, Xueping Fan, Kasper Lage, Lily Y. Lu, Joanna Tao, Xuchen Hu, Ronald Berezney, Bruce D. Gelb, Anna Kamp, Ivan P. Moskowitz, Ronald V. Lacro, Lu W, Cynthia C. Morton, James F. Gusella, Richard L. Maas

    Publicado em 2015
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  8. 8
    Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

    Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders Por Hane Lee, Joshua L. Deignan, Naghmeh Dorrani, Samuel P. Strom, Sibel Kantarci, Fabiola Quintero‐Rivera, Kingshuk Das, Traci L. Toy, Bret Harry, Michael Yourshaw, Michelle Fox, Brent L. Fogel, Julián A. Martínez-Agosto, Derek A. Wong, Vivian Y. Chang, Perry B. Shieh, Christina G.S. Palmer, Katrina M. Dipple, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

    Publicado em 2014
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  9. 9
    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis Por Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire Redin, Ryan L. Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F. Crandall, Pamela Gerrol, Mark A. Hayden, Naveed Hussain, Bibi Kanengisser‐Pines, Sibel Kantarci, Brynn Levy, Michael J. Macera, Fabiola Quintero‐Rivera, Erica Spiegel, Blair Stevens, Janet E. Ulm, Dorothy Warburton, Louise Wilkins‐Haug, Naomi Yachelevich, James F. Gusella, Michael E. Talkowski, Cynthia C. Morton

    Publicado em 2016
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  10. 10
    NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

    NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects Por Lu W, Fabiola Quintero‐Rivera, Yanli Fan, Fowzan S. Alkuraya, Diana Donovan, Qiongchao Xi, Annick Turbé-Doan, Qinggang Li, Craig Campbell, Alan Shanske, Elliott H. Sherr, Ayesha Ahmad, Roxana Peters, B. Rilliet, Paloma Parvex, Alexander G. Bassuk, D. James Harris, Heather Ferguson, Chantal Kelly, Christopher A. Walsh, Richard M. Gronostajski, Koenraad Devriendt, Anne W. Higgins, Azra H. Ligon, Bradley J. Quade, Cynthia C. Morton, James F. Gusella, Richard L. Maas

    Publicado em 2007
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  11. 11
    Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

    Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux Por Lu W, Albertien M. van Eerde, Xueping Fan, Fabiola Quintero‐Rivera, Shashikant Kulkarni, Heather Ferguson, Hyung‐Goo Kim, Yanli Fan, Qiongchao Xi, Qing-gang Li, Damien Sanlaville, William D. Andrews, Vasi Sundaresan, Weimin Bi, Jiong Yan, Jacques C. Giltay, Cisca Wijmenga, Tom P.V.M. de Jong, Sally Feather, Adrian S. Woolf, Yi Rao, James R. Lupski, Michael R. Eccles, Bradley J. Quade, James F. Gusella, Cynthia C. Morton, Richard L. Maas

    Publicado em 2007
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  12. 12
    Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

    Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome Por Ryan L. Collins, Harrison Brand, Claire Redin, Carrie Hanscom, Caroline Antolik, Matthew R. Stone, Joseph Glessner, Tamara Mason, Giulia Pregno, Naghmeh Dorrani, Giorgia Mandrile, Daniela Giachino, Danielle Perrin, Cole Walsh, Michelle Cipicchio, Maura Costello, Alexei Stortchevoi, Joon‐Yong An, Benjamin Currall, Catarina M. Seabra, Ashok Ragavendran, Lauren Margolin, Julián A. Martínez-Agosto, Diane Lucente, Brynn Levy, Stephan Sanders, Ronald J. Wapner, Fabiola Quintero‐Rivera, Wigard P. Kloosterman, Michael E. Talkowski

    Publicado em 2017
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  13. 13
    DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

    DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies Por Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julián A. Martínez-Agosto, Natalia Gomez‐Ospina, Natalie M. Gallant, Jonathan A. Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka‐Kowalnik, Michelle Fox, Joshua L. Deignan, Éric Vilain, Emily Hendricks, Margaret Harr, Sarah E. Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H. Zackai, Ian D. Krantz, A. Micheil Innes, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

    Publicado em 2015
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  14. 14
    Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

    Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project Por Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, G.A.P. Bruns, Diana Donovan, R.E. Eisenman, Yanli Fan, Chantal G. Farra, Heather Ferguson, James F. Gusella, David J. Harris, Steven R. Herrick, Chantal Kelly, Hyung Goo Kim, Shotaro Kishikawa, Bruce R. Korf, Shashikant Kulkarni, Eric Lally, Natalia T. Leach, Emma Lemyre, Janine Lewis, Azra H. Ligon, Lu W, Richard L. Maas, Marcy E. MacDonald, Steven D.P. Moore, Roxanna E. Peters, Bradley J. Quade, Fabiola Quintero‐Rivera, Irfan Saadi, Yiping Shen, Jay Shendure, Robin E. Williamson, Cynthia C. Morton

    Publicado em 2008
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  15. 15
    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update Por Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A. Dabir, Katrina M. Dipple, William B. Dobyns, Jane Estrella, Hanna Faghfoury, Francine Pinheiro Favaro, Himanshu Goel, Pernille Axél Gregersen, Karen W. Gripp, Art Grix, M. L. Guion‐Almeida, Margaret Harr, Cindy Hudson, Alasdair G. W. Hunter, John P. Johnson, Shelagh Joss, Amy Kimball, Usha Kini, Antonie D. Kline, Julie Lauzon, Dorte L. Lildballe, Vanesa López‐González, Johanna Martinezmoles, Cliff Meldrum, Ghayda Mirzaa, Chantal F. Morel, Jenny E.V. Morton, Louise C. Pyle, Fabiola Quintero‐Rivera, Julie Richer, Angela E. Scheuerle, Bitten Schönewolf‐Greulich, Deborah Shears, Josh Silver, Amanda Smith, I. Karen Temple, Jiddeke M. van de Kamp, Fleur S van Dijk, Anthony M. Vandersteen, Sue M. White, Elaine H. Zackai, Ruobing Zou, CareRare Canada Consortium, Dennis E. Bulman, Kym M. Boycott, Matthew A. Lines

    Publicado em 2015
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  16. 16
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Por Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    Publicado em 2014
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  17. 17
    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay Por Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David Bearden, Asbjørg Stray‐Pedersen, Øyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara Skraban, Matthew A. Deardorff, Jeremy Friedman, Zeynep Coban‐Akdemir, Sophie Nicole, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie‐Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon F. Freedman, Deeksha Bali, Francisca Millan, Sherri J. Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martínez‐Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Samuel P. Strom, Éric Vilain, Joshua L. Deignan, Fabiola Quintero‐Rivera, Sibel Kantarci, Naghmeh Dorrani, Sureni V. Mullegama, Sung‐Hae Kang, Szabolcs Szelinger, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Azamian S. Mashid, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, Andrea Gropman, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln

    Publicado em 2017
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