نتائج البحث - Curtis Rogers
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Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome حسب 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
منشور في 2016Artigo -
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Phelan-McDermid syndrome: a classification system after 30 years of experience حسب 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
منشور في 2022Carta -
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Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome حسب 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
منشور في 2006Artigo -
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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene حسب 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
منشور في 2005Artigo -
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DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome حسب 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
منشور في 2021Artigo -
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GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome حسب 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
منشور في 2012Artigo -
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome حسب 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
منشور في 2019Artigo -
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Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation حسب 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
منشور في 2006Artigo -
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities حسب 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
منشور في 2013Artigo -
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KDM5A mutations identified in autism spectrum disorder using forward genetics حسب 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
منشور في 2020Artigo -
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DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review حسب 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
منشور في 2025Revisão -
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Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions حسب 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
منشور في 2025Revisão -
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Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity حسب 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
منشور في 2011Artigo -
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy حسب 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
منشور في 2012Artigo -
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<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD حسب 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
منشور في 2022Artigo -
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants حسب 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
منشور في 2018Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Phenotype
Medicine
Internal medicine
Missense mutation
Mutation
Autism
Cell biology
Haploinsufficiency
Neurodevelopmental disorder
Psychiatry
Autism spectrum disorder
Endocrinology
Exome sequencing
Human genetics
Neuroscience
Psychology
Allele
Anatomy
Bioinformatics
DNA methylation
Etiology
Exome
Gene expression
Hypopigmentation
Methylation
Molecular biology
Receptor