Kết quả tìm kiếm - Roberto Mendoza‐Londono

Tinh chỉnh kết quả
  1. 1
    15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

    15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes Bằng Abdul Noor, Lucie Dupuis, Kirti Mittal, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Tracy Stockley, John B. Vincent, Roberto Mendoza‐Londono, Dimitri J. Stavropoulos

    Được phát hành 2015
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    Artigo
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  2. 2
    Clinical utility of genomic sequencing: a measurement toolkit

    Clinical utility of genomic sequencing: a measurement toolkit Bằng Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan C. Lanpher, Vaidehi Jobanputra, Roberto Mendoza‐Londono, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan A. Ashley

    Được phát hành 2020
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  3. 3
    Generalized metabolic bone disease in Neurofibromatosis type I

    Generalized metabolic bone disease in Neurofibromatosis type I Bằng Nicola Brunetti‐Pierri, Stephen B. Doty, John Hicks, Kelly Phan, Roberto Mendoza‐Londono, Maria Blazo, Alyssa A. Tran, Susan Carter, Richard A. Lewis, Sharon E. Plon, William A. Phillips, E. O’Brian Smith, Kenneth J. Ellis, Brendan Lee

    Được phát hành 2008
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    Artigo
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  4. 4
    The Ehlers–Danlos syndromes, rare types

    The Ehlers–Danlos syndromes, rare types Bằng Angela F. Brady, Serwet Demirdas, Sylvie Fournel‐Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer‐Seebacher, Tomoki Kosho, Roberto Mendoza‐Londono, Michael Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol C. Voermans, Johannes Zschocke, Fransiska Malfait

    Được phát hành 2017
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  5. 5
    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations

    Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations Bằng Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Mégarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae‐Joon Cho, F. Bedeschi, Francesco Benedicenti, Roberto Mendoza‐Londono, Margherita Silengo, Maren Schmidt‐Rimpler, Jürgen W. Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti‐Furga

    Được phát hành 2010
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    Artigo
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  6. 6
    De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

    De novo <i>ACTA2</i> mutation causes a novel syndrome of multisystemic smooth muscle dysfunction Bằng Dianna M. Milewicz, John R. Østergaard, Leena Ala‐Kokko, Nadia Khan, Dorothy K. Grange, Roberto Mendoza‐Londono, Timothy J. Bradley, Ann Haskins Olney, Lesley C. Adès, Joseph F. Maher, Dongchuan Guo, L. Maximilian Buja, Dong Kim, James Hyland, Ellen S. Regalado

    Được phát hành 2010
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    Artigo
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  7. 7
    Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

    Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC Bằng Roberto Mendoza‐Londono, Somayyeh Fahiminiya, Jacek Majewski, Martine Tétreault, Javad Nadaf, Pekka Kannus, Etienne Sochett, Andrew Howard, Jennifer Stimec, Lucie Dupuis, Paul Roschger, Klaus Klaushofer, Telma Palomo, Jean Ouellet, Hadil Al‐Jallad, John S. Mort, Pierre Moffatt, Sergei P. Boudko, Hans‐Peter Bächinger, Frank Rauch

    Được phát hành 2015
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    Artigo
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  8. 8
    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing Bằng Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall

    Được phát hành 2018
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    Artigo
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  9. 9
    Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

    Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders Bằng Daria Wojtal, Dwi U. Kemaladewi, Zeenat Malam, Sarah Abdullah, Tatianna Wai Ying Wong, Elzbieta Hyatt, Zahra Baghestani, Sérgio L. Pereira, James Stavropoulos, Vincent Mouly, Kamel Mamchaoui, Francesco Muntoni, Thomas Voit, Hernán Gonorazky, James J. Dowling, Michael D. Wilson, Roberto Mendoza‐Londono, Evgueni A. Ivakine, Ronald D. Cohn

    Được phát hành 2015
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    Artigo
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  10. 10
    Trio RNA sequencing in a cohort of medically complex children

    Trio RNA sequencing in a cohort of medically complex children Bằng Ashish R. Deshwar, Kyoko E. Yuki, Huayun Hou, Yijing Liang, Tayyaba Khan, Alper Celik, Arun Ramani, Roberto Mendoza‐Londono, Christian R. Marshall, Michael Brudno, Adam Shlien, M. Stephen Meyn, Robin Z. Hayeems, Brandon J. McKinlay, Panagiota Klentrou, Michael D. Wilson, Lianna Kyriakopoulou, Gregory Costain, James J. Dowling

    Được phát hành 2023
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    Artigo
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  11. 11
    NSD1 mutations generate a genome-wide DNA methylation signature

    NSD1 mutations generate a genome-wide DNA methylation signature Bằng Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Andrei L. Turinsky, Daria Grafodatskaya, Youxi Chen, Ana S.A. Cohen, Lucie Dupuis, Darci T. Butcher, M. Siu, Ho‐Ming Luk, Ivan F. M. Lo, Stephen T.S. Lam, Oana Caluseriu, Dimitri J. Stavropoulos, William Reardon, Roberto Mendoza‐Londono, Michael Brudno, William T. Gibson, David Chitayat, Rosanna Weksberg

    Được phát hành 2015
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    Artigo
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  12. 12
    Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

    Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype Bằng Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering, Claudia M.B. Carvalho, Anna Eifert, Ellen M. Friedman, Daniel G. Glaze, Kevin R. Krull, Jennifer A. Lee, Richard A. Lewis, Roberto Mendoza‐Londono, Patricia Robbins‐Furman, Chad A. Shaw, Xin Shi, George Weissenberger, Marjorie Withers, Svetlana A. Yatsenko, Elaine H. Zackai, Paweł Stankiewicz, James R. Lupski

    Được phát hành 2007
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    Artigo
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  13. 13
    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Bằng Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky, Michelle T. Siu, Michal Inbar‐Feigenberg, Roberto Mendoza‐Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu, Lucie Dupuis, Daria Grafodatskaya, William Reardon, Brigitte Gilbert‐Dussardier, Alain Verloès, Frédéric Bilan, Jeff M. Milunsky, Raveen Basran, Blake C. Papsin, Tracy Stockley, Stephen W. Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg

    Được phát hành 2017
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    Artigo
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  14. 14
    Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

    Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity Bằng Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, Meredith Curtis, Stephanie Luca, Jason Buera, Danielle Arje, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Brett Trost, Wilson W. L. Sung, Ryan K. C. Yuen, David Chitayat, Roberto Mendoza‐Londono, Dimitri J. Stavropoulos, Stephen W. Scherer, Christian R. Marshall, Ronald D. Cohn, Eyal Cohen, Julia Orkin, M. Stephen Meyn, Robin Z. Hayeems

    Được phát hành 2020
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    Artigo
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  15. 15
    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists Bằng Kym M. Boycott, Taila Hartley, Shelin Adam, François Bernier, Karen Chong, Bridget A. Fernandez, Jan M. Friedman, Michael T. Geraghty, Stacey Hume, Bartha Maria Knoppers, Anne‐Marie Laberge, Jacek Majewski, Roberto Mendoza‐Londono, M. Stephen Meyn, Jacques L. Michaud, Tanya N. Nelson, Julie Richer, Bekim Sadiković, David Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma’n H. Zawati, Julie Lauzon, Christine M. Armour

    Được phát hành 2015
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    Artigo
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  16. 16
    Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

    Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders Bằng Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, Ryo Kogawa, Aritoshi Iida, Hironori Ito, Hiroshi Kitoh, Aya Hirayama, Hiroshi Mitsubuchi, Osamu Miyazaki, Rika Kosaki, Reiko Horikawa, Angeline Lai, Roberto Mendoza‐Londono, Lucie Dupuis, David Chitayat, Andrew Howard, Gabriela Ferraz Leal, Denise P. Cavalcanti, Yoshinori Tsurusaki, Hirotomo Saitsu, Shigehiko Watanabe, Ekkehart Lausch, Sheila Unger, Luisa Bonafé, Hirofumi Ohashi, Andrea Superti‐Furga, Naomichi Matsumoto, Kazuyuki Sugahara, Gen Nishimura, Shiro Ikegawa

    Được phát hành 2013
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    Artigo
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  17. 17
    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Bằng Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana, Bregje W.M. van Bon, Sara Halbach, Elena Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Mónica Roselló, Swaroop Aradhya, Dimitri J. Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C. Hodge, Michael E. Talkowski, James F. Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E. Pyatt, Darrel Waggoner, Lisa G. Shaffer, Angela E. Lin, Bert B.A. de Vries, Roberto Mendoza-Londoño, Sarah H. Elsea

    Được phát hành 2013
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    Artigo
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  18. 18
    ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration

    ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration Bằng Takuo Hirose, Alfredo Cabrera‐Socorro, David Chitayat, Thomas Lemonnier, Olivier Féraud, Carmen Cifuentes-Díaz, Nicolas Gervasi, Cédric Mombereau, Tanay Ghosh, Loredana Elena Stoica, Jeanne d’Arc Al Bacha, Hiroshi Yamada, Marcel A. Lauterbach, Marc Guillon, Kiriko Kaneko, Joy Norris, Komudi Siriwardena, Susan Blasér, Jérémie Teillon, Roberto Mendoza‐Londono, Marion Russeau, Julien Hadoux, Sadayoshi Ito, Pierre Corvol, Maria Gisele Matheus, Kenton R. Holden, Kohji Takei, Valentina Emiliani, Annelise Bennaceur‐Griscelli, Charles E. Schwartz, Geneviève Nguyen, Matthias Groszer

    Được phát hành 2019
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    Artigo
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  19. 19
    Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

    Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy Bằng Carol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, Muhammad Sajid Hussain, Louise S. Bicknell, Andrea Leitch, Gudrun Nürnberg, Mohammad R. Toliat, Jennie Murray, David Hunt, Fawad Khan, Zafar Ali, Sigrid Tinschert, James Ding, Charlotte Keith, Margaret E Harley, Patricia Heyn, Rolf Müller, Ingrid Hoffmann, Valérie Cormier‐Daire, Hélène Dollfus, Lucie Dupuis, Anu Bashamboo, Kenneth McElreavey, Ariana Kariminejad, Roberto Mendoza‐Londono, Anthony T. Moore, Anand Saggar, Catie Schlechter, Richard G. Weleber, Hölger Thiele, Janine Altmüller, Wolfgang Höhne, Matthew E. Hurles, Angelika A. Noegel, Shahid Mahmood Baig, Peter Nürnberg, Andrew P. Jackson

    Được phát hành 2014
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    Artigo
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  20. 20
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome Bằng Machteld M. Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H. Jansen, René Santer, Jessika Johannsen, Chiara Bacchelli, Mariëlle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M. Cale, Ronald J. A. Wanders, Steven T. Pals, Louise Ocaka, Chela James, Ingo Müller, Kai Lehmberg, Tim M. Strom, Hartmut Engels, Hywel Williams, Phil Beales, Ronald Roepman, Patrícia Dias, Han G. Brunner, Jan-Maarten Cobben, Christine M Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza‐Londono, E. Graham Davies, Sérgio B. Sousa, Davor Lessel, Heleen H. Arts, Taco W. Kuijpers

    Được phát hành 2017
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    Artigo
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