Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Caleb Rogers"'
Autor:
Amiee Potter, Timothy O'Brien, Arpita Kulkarni, Sarah McCabe, Karen Kovak, Caleb Rogers, Sue Richards, Stephen Moore
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100585- (2023)
Externí odkaz:
https://doaj.org/article/ddb2c72b6d404b35a1c625f0488e8cc4
Autor:
Michelle, Adutwum, Anna, Hurst, Ghayda, Mirzaa, Jessica D, Kushner, Caleb, Rogers, Nahla, Khalek, Ana G, Cristancho, Natalie, Burrill, Michael E, Seifert, Maria I, Scarano, Rhonda E, Schnur, Anne, Slavotinek
Publikováno v:
Clinical Genetics. 103:97-102
The Crumbs homolog-2 (CRB2)-related syndrome (CRBS-RS) is a rarely encountered condition initially described as a triad comprising ventriculomegaly, Finnish nephrosis, and elevated alpha-fetoprotein levels in maternal serum and amniotic fluid. CRB2-r
Autor:
Amiee B. Potter, Timothy D. O'Brien, Arpita Kulkarni, Sarah McCabe, Kathryn Matthews, Karen Kovak, Caleb Rogers, C. Sue Richards, Stephen Moore
Publikováno v:
Clinical Genetics.
Autor:
Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre
Publikováno v:
Journal of Medical Genetics, 59(11), 1058-1068. BMJ PUBLISHING GROUP
J Med Genet
J Med Genet
BackgroundA neurodevelopmental syndrome was recently reported in four patients withSOX4heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge of this s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fcc7109453ac5c5dd3b5ae4e14c6a32
http://hdl.handle.net/1887/3563135
http://hdl.handle.net/1887/3563135
Autor:
Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
Publikováno v:
Human Mutation. 41:299-315
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University of Alabama at Birmingham (UAB) cohort, together identified in 1.8% o
Autor:
Nihr BioResource, F. Lucy Raymond, Shekeeb S. Mohammad, TD Graves, Susan J. Hayflick, Bert B.A. de Vries, Katy Barwick, Conor Fearon, Dora Steel, Mark Hallett, Asif Doja, Emilie Chan Seng, Camilo Toro, Fiona Stewart, Diane Demailly, Suh Young Jeong, Claudio M. de Gusmao, Frédérique Pavillard, Nutan Sharma, Fabienne Cyprien, Juan C Pallais, Brent L. Fogel, David R. FitzPatrick, Lucia Abela, Russell C. Dale, Bettina Balint, Natalie Trump, Michel Tchan, Sony Malhotra, Swasti Pal, Maya Topf, Manju A. Kurian, Michelle Sahagian, Julia Rankin, Laila Selim, Jeff L. Waugh, Sidney Krystal, Gustavo Polo, Caleb Rogers, Michel Mondain, Kailash P. Bhatia, Ishwar C. Verma, Marisela Dy-Hollins, Kelly A. Mills, Derek Wong, Laura Cif, William A. Gahl, Meredith W Allain, Sanaz Attaripour Isfahani, Agathe Roubertie, Jenny L. Wilson, Allison Gregory, Victoria Gonzalez, Carolyn D. Applegate, Nathalie Dorison, Jennifer A. Bassetti, Catherine Blanchet, Ada Hamosh, Deciphering Developmental Disorders Study, Hane Lee, Julien Baleine, Emma L. Baple, Gaetan Lesca, Anna Znaczko, Thomas Roujeau, Mario Sa, Laurence Lion François, Neil Mahant, Diane Doummar, Sandra Jansen, Marie Hully, Christine Coubes, Eva B. Forman, Victor S.C. Fung, Gaëtan Poulen, Raghda Zaitoun, Serena Galosi, Timothy Lynch, Xavier Vasques, Elise Schaefer, Richard Selway, Adeline Ngoh, Tuula Rinne, Philippe Coubes, Elizabeth L. Fieg, Rachel Fox, Jennifer Friedman, Andrea K. Petersen, Hugo Morales-Briceño, Rebecca Signer, Luis Rohena, Sandra Chantot Bastaraud, Chloé Laurencin, Kishore R. Kumar, Julian A. Martinez-Agosto, Ellyn Farrelly, Kathleen M. Gorman, Esther Meyer, Joel B. Krier, Ariane Soldatos, Lydie Burglen, Jean-Pierre Lin, Pierre-François Perrigault, Dolly Zhen, Harutomo Hasegawa, Mary D. King, Alba Sanchis-Juan, David A. Stevenson, Gilles Cambonie, Wui K. Chong, Christophe Milési, Vincent d'Hardemare, John R. Østergaard
Publikováno v:
Cif, L, Demailly, D, Lin, J P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Deciphering Developmental Disorders Study, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Genomics England Research Consortium, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, S J, Hamosh, A, Hully, M, Jansen, S, Jeong, S Y, Krier, J B, Krystal, S, Kumar, K R, Laurencin, C, Lee, H, Lesca, G, François, L L, Lynch, T, Mahant, N, Martinez-Agosto, J A, Milesi, C, Mills, K A, Mondain, M, Morales-Briceno, H, NIHR BioResource, Ostergaard, J R & Undiagnosed Diseases Network 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Brain
Brain, 143, 3242-3261
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, ⟨10.1093/brain/awaa304⟩
Brain, 143, 11, pp. 3242-3261
Cif, L, Demailly, D, Lin, J-P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H & Ostergaard, J R 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Brain
Brain, 143, 3242-3261
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, ⟨10.1093/brain/awaa304⟩
Brain, 143, 11, pp. 3242-3261
Cif, L, Demailly, D, Lin, J-P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H & Ostergaard, J R 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454b73289249592eb28ef6cf30506835
https://doi.org/10.1093/brain/awaa304
https://doi.org/10.1093/brain/awaa304
Publikováno v:
AJNR Am J Neuroradiol
BACKGROUND AND PURPOSE: A detailed delineation of the MR imaging changes in the globus pallidus in pantothenate kinase–associated neurodegeneration will be helpful for diagnosis and monitoring of patients. The aim of this study was to determine the
Autor:
Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A. Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben-Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Marcus Annable, Elizabeth Marchani Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen P. Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie A. Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel J. McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Santos-Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Qian Yi
Publikováno v:
The American Journal of Human Genetics. 99:1229-1244
Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defectiv
Autor:
Rachel Fox, Aslı İnci, Fatih Süheyl Ezgü, Caleb Rogers, Susan J. Hayflick, Betül Emine Derinkuyu, Çiğdem Seher Kasapkara, Allison Gregory, Leyla Tümer
Publikováno v:
Acta Neurol Belg
Autor:
Randall L. Woltjer, Isabella Gabriel, Suh Young Jeong, Lynn Sanford, Megan Chalupsky, Jeffrey Hamada, Allison Gregory, Huong Tran, Leila K. Schwanemann, Penelope Hogarth, Brian E. Richardson, Sarah Green, Lindsay C. Reese, Caleb Rogers, Susan J. Hayflick, Tyler Light, Thao Pham
Publikováno v:
Molecular Genetics and Metabolism. 116:289-297
Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive movement disorder that is due to mutations in PANK2. Pathologically, it is a member of a class of diseases known as neurodegeneration with brain iron accumulation (NBIA) and fea