Torthaí cuardaigh - Curtis Rogers

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  1. 1
    PYY and NPY: control of gastric motility via action on Y1 and Y2 receptors in the DVC

    PYY and NPY: control of gastric motility via action on Y1 and Y2 receptors in the DVC de réir C.‐H. Chen, Robert L. Stephens, R. Curtis Rogers

    Foilsithe / Cruthaithe 1997
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  2. 2
    Vagal Afferent Stimulation Activates Astrocytes in the Nucleus of the Solitary Tract Via AMPA Receptors: Evidence of an Atypical Neural–Glial Interaction in the Brainstem

    Vagal Afferent Stimulation Activates Astrocytes in the Nucleus of the Solitary Tract Via AMPA Receptors: Evidence of an Atypical Neural–Glial Interaction in the Brainstem de réir David H. McDougal, Gerlinda E. Hermann, R. Curtis Rogers

    Foilsithe / Cruthaithe 2011
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  3. 3
    Selection of an escape variant of Borrelia burgdorferi by use of bactericidal monoclonal antibodies to OspB

    Selection of an escape variant of Borrelia burgdorferi by use of bactericidal monoclonal antibodies to OspB de réir James L. J. Coleman, R. Curtis Rogers, Jorge L. Benach

    Foilsithe / Cruthaithe 1992
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  4. 4
    Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

    Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia de réir Fatima Abidi, Lynda Holloway, C. A. Moore, David D. Weaver, Richard J. Simensen, Roger E. Stevenson, R. Curtis Rogers, Charles E. Schwartz

    Foilsithe / Cruthaithe 2008
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  5. 5
    Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

    Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome de réir Carine Le Goff, Curtis Rogers, Wilfried Le Goff, Graziella Pinto, Damien Bonnet, Maya Chrabieh, Olivier Alibeu, Patrick Nistchke, Arnold Münnich, Capucine Pïcard, Valérie Cormier‐Daire

    Foilsithe / Cruthaithe 2016
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  6. 6
    Phelan-McDermid syndrome: a classification system after 30 years of experience

    Phelan-McDermid syndrome: a classification system after 30 years of experience de réir Katy Phelan, Luigi Boccuto, Craig M. Powell, Tobias M. Boeckers, Conny M.A. van Ravenswaaij‐Arts, R. Curtis Rogers, Carlo Sala, Chiara Verpelli, Audrey Thurm, William E. Bennett, Christopher J. Winrow, Sheldon R. Garrison, Roberto Toro, Thomas Bourgeron

    Foilsithe / Cruthaithe 2022
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  7. 7
    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome de réir Kathleen A. Williamson, Ann Hever, Joe Rainger, R. Curtis Rogers, Alex Magee, Z Fiedler, Wee Teik Keng, Freddie H. Sharkey, Niolette I. McGill, Clare J. Hill, Adele Schneider, Mario Messina, Peter D. Turnpenny, Judy Fantes, Veronica van Heyningen, David Fitzpatrick

    Foilsithe / Cruthaithe 2006
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  8. 8
    Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

    Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene de réir Charles E. Schwartz, Melanie May, Nancy J. Carpenter, R. Curtis Rogers, Judith A. Martin, Martin G. Bialer, Jewell C. Ward, Javier Sanabria, Silvana Marsa, James A. Lewis, Roberto J. Echeverri, Herbert A. Lubs, Kytja K. S. Voeller, Richard J. Simensen, Roger E. Stevenson

    Foilsithe / Cruthaithe 2005
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  9. 9
    DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

    DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome de réir Laila C. Schenkel, Erfan Aref‐Eshghi, Kathleen Rooney, Jennifer Kerkhof, Michael A. Levy, Hannah McConkey, R. Curtis Rogers, Katy Phelan, Sara M. Sarasua, Lavanya Jain, Rini Pauly, Luigi Boccuto, Barbara R. DuPont, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Charles E. Schwartz, Bekim Sadiković

    Foilsithe / Cruthaithe 2021
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  10. 10
    GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

    GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome de réir Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fejes, Hashem Shahin, Moien Kanaan, Hatice Akay, Mustafa Tekin, Barbara L. Triggs‐Raine, Teresa Zelinski

    Foilsithe / Cruthaithe 2012
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  11. 11
    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

    Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome de réir Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman, R. Curtis Rogers, Sara Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather L. Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Paul R. Mark, Hákon Hákonarson, Laurie Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David I. Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadiković

    Foilsithe / Cruthaithe 2019
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  12. 12
    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation de réir Nathaniel H. Robin, Clare Taylor, Donna M. McDonald‐McGinn, Elaine H. Zackai, Peter M. Bingham, Kevin Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean‐Pierre Lin, David R. Lynch, Shehla Mohammed, R. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. Stevens, Marc Tischkowitz, Neil Stoodley, Richard J. Leventer, Daniela T. Pilz, William B. Dobyns

    Foilsithe / Cruthaithe 2006
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  13. 13
    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

    Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities de réir Jennelle C. Hodge, Elyse Mitchell, Vamsee Pillalamarri, Tomi L. Toler, Frank Bartel, Hutton M. Kearney, Ying Zou, Wen‐Hann Tan, Carrie Hanscom, Salman Kirmani, Rae R. Hanson, Steve Skinner, R. Curtis Rogers, David B. Everman, E. Boyd, Caley Tapp, Sureni V. Mullegama, Debra Keelean‐Fuller, Cynthia M. Powell, Sarah H. Elsea, Cynthia C. Morton, James F. Gusella, Barbara R. DuPont, Alka Chaubey, Angela E. Lin, Michael E. Talkowski

    Foilsithe / Cruthaithe 2013
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  14. 14
    KDM5A mutations identified in autism spectrum disorder using forward genetics

    KDM5A mutations identified in autism spectrum disorder using forward genetics de réir Lauretta El Hayek, İslam Oğuz Tuncay, Nadine Nijem, Jamie L. Russell, Sara Ludwig, Kiran Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, Pia Zacher, Hessa S. Alsaif, Abolfazl Rad, Kazem Hassanpour, Mohammad Reza Abbaszadegan, Camerun Washington, Barbara R. DuPont, Raymond J. Louie, Madeline Couse, Maha Faden, R. Curtis Rogers, Rami Abou Jamra, Ellen Roy Elias, Reza Maroofian, Henry Houlden, Anna Lehman, Bruce Beutler, Maria H. Chahrour

    Foilsithe / Cruthaithe 2020
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  15. 15
    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review

    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review de réir Milou G. P. Kennis, Dmitrijs Rots, Arjan Bouman, Charlotte W. Ockeloen, Caroline Boelen, Carlo Marcelis, Bert B.A. de Vries, Mariet W. Elting, Quinten Waisfisz, Mohnish Suri, Esperanza Font–Montgomery, Dawn Peck, Deirdre E. Donnelly, R. Curtis Rogers, Ruth Richardson, Roseline Caumes, Boris Chaumette, Cécile Louveau, Suzanne C.E.H. Sallevelt, Saskia M. Maas, Jeroen J. Smits, Mieke M. van Haelst, Rebecca J. Levy, Helen Stewart, Bart Loeys, Rolph Pfundt, Tjitske Kleefstra, Lot Snijders Blok

    Foilsithe / Cruthaithe 2025
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  16. 16
    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions de réir Lydia Sagath, Kirsi Kiiski, K. Satyam Naidu, Krutik Patel, Per Harald Jonson, Milla Laarne, Djurdja Djordjevic, Grace Yoon, Anna LaGroon, Curtis Rogers, Maureen Kelly Galindo, Katalin Scherer, Erdmute Kunstmann, Erkan Koparir, D D Ho, Mark R. Davis, Purwa Joshi, A. Zygmunt, Rotem Orbach, Sandra Donkervoort, C. Bönnemann, Marco Savarese, Andoni Echaniz‐Laguna, Valérie Biancalana, Casie A. Genetti, Susan T. Iannaccone, Alan H. Beggs, Carina Wallgren‐Pettersson, Franclo Henning, Katarina Pelin, Vilma‐Lotta Lehtokari

    Foilsithe / Cruthaithe 2025
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  17. 17
    Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

    Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity de réir Eric D. Boyden, Belinda Campos‐Xavier, Sebastian Kalamajski, Trevor L. Cameron, Philippe Suarez, Goranka Tanackovich, Generoso Andria, Diana Ballhausen, Michael D. Briggs, Claire Hartley, Daniel H. Cohn, H. Rosemarie Davidson, Christine M Hall, Shiro Ikegawa, Pierre‐Simon Jouk, Rainer König, André Megarbané, Gen Nishimura, Ralph S. Lachman, Geert Mortier, David L. Rimoin, R. Curtis Rogers, Massimiliano Rossi, Hirotake Sawada, Richard H. Scott, Sheila Unger, Eugênia Ribeiro Valadares, John F. Bateman, Matthew L. Warman, Andrea Superti‐Furga, Luisa Bonafé

    Foilsithe / Cruthaithe 2011
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  18. 18
    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

    Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy de réir Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici, Birgit Brandmeier, Frances J.D. Smith, Zoë Urry, Michael A. Simpson, Shu Yau, Enrico Bertini, Verity M. McClelland, Mohammed Al‐Owain, Stefan Koelker, Christian Koerner, Georg F. Hoffmann, Frits A. Wijburg, Amber E. ten Hoedt, R. Curtis Rogers, David K. Manchester, Rie Miyata, Masaharu Hayashi, Edith Said, Doriette Soler, Peter M. Kroisel, Christian Windpassinger, Francis Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, István Bódi, Hans-Hilmar Goebel, Caroline A. Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth

    Foilsithe / Cruthaithe 2012
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  19. 19
    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD de réir Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer Howe, Emanuele Agolini, Domenico Coviello, Ingrid M.B.H. van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia Pia Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoît Mazel, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Marjon A. van Slegtenhorst, Noor A. A. Giesbertz, Richard H. van Jaarsveld, Anna K. Childers, R. Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D. Buxbaum, Stephen W. Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco

    Foilsithe / Cruthaithe 2022
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  20. 20
    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

    Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants de réir Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vũ Chí Dũng, Lisa Emrick, David B. Everman, Koen L.I. van Gassen, Süleyman Gülsüner, Margaret Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald‐McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth Roeder, R. Curtis Rogers, Lena Sagi‐Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker

    Foilsithe / Cruthaithe 2018
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