Results 151 to 160 of about 1,021,105 (352)
Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos +14 morewiley +1 more sourceThe Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT
Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records, Abdallah F. Eliaswiley +1 more sourceCMET-15. WHOLE EXOME SEQUENCING OF BRAIN METASTASES FROM COLORECTAL PRIMARY CANCERS REVEALS CLINICALLY ACTIONABLE MUTATIONS [PDF]
, 2018 Matthew R. Strickland, Mia Bertalan, Benjamin M. Kuter, Tareq A. Juratli, Victoria Melchert, Nancy Higgins, Michelle Toups, Alexander Kaplan, Ivanna V. Bihun, Naema Nayyar, María Martínez-Lage, Darrell R. Borger, Helen A. Shih, Theodore S. Hong, Priscilla K. Brastianos +14 moreopenalex +1 more sourceIdentification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson +10 morewiley +1 more sourceInfantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio +15 morewiley +1 more sourceLarge-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Cell, 2019 F. Satterstrom, J. Kosmicki, Jiebiao Wang, M. Breen, S. Rubeis, Joon-Yong An, Minshi Peng, Ryan L. Collins, J. Grove, L. Klei, C. Stevens, J. Reichert, Maureen S. Mulhern, M. Artomov, Sherif Gerges, B. Sheppard, Xinyi Xu, A. Bhaduri, Utku Norman, H. Brand, Grace B. Schwartz, Rachel Nguyen, Elizabeth E. Guerrero, Caroline Dias, C. Betancur, E. Cook, L. Gallagher, M. Gill, J. Sutcliffe, A. Thurm, M. Zwick, A. Børglum, M. State, A. E. Cicek, M. Talkowski, D. Cutler, B. Devlin, Stephan J Sanders, K. Roeder, M. Daly, J. Buxbaum, B. Aleksic, R. Anney, M. Barbosa, S. Bishop, A. Brusco, J. Bybjerg-Grauholm, Á. Carracedo, M. Chan, A. Chiocchetti, B. Chung, H. Coon, M. Cuccaro, Aurora Curró, B. Bernardina, Ryan N. Doan, E. Domenici, Shan Dong, C. Fallerini, M. Fernández-Prieto, G. Ferrero, C. Freitag, M. Fromer, J. Gargus, D. Geschwind, E. Giorgio, J. González-Peñas, Stephen J. Guter, D. Halpern, Emily Hansen-Kiss, Xin He, G. Herman, I. Hertz-Picciotto, D. Hougaard, C. Hultman, I. Ionita-Laza, Suma Jacob, J. Jamison, A. Jugessur, Miia Kaartinen, G. Knudsen, A. Kolevzon, I. Kushima, S. L. Lee, T. Lehtimäki, Elaine T. Lim, C. Lintas, W. Lipkin, D. Lopergolo, F. Lopes, Yunin J Ludeña, P. Maciel, P. Magnus, B. Mahjani, N. Maltman, D. Manoach, G. Meiri, I. Menashe, Judith S Miller, N. Minshew, Eduarda M.S. Montenegro, D. Moreira, E. Morrow, O. Mors, P. Mortensen, Matthew W. Mosconi, P. Muglia, B. Neale, M. Nordentoft, N. Ozaki, A. Palotie, M. Parellada, M. Passos-Bueno, M. Pericak-Vance, A. Persico, Isaac Pessah, K. Puura, A. Reichenberg, A. Renieri, E. Riberi, E. Robinson, K. Samocha, S. Sandin, S. Santangelo, G. Schellenberg, S. Scherer, S. Schlitt, R. Schmidt, Lauren M. Schmitt, I. M. Silva, T. Singh, P. Siper, Moyra J. Smith, G. Soares, C. Stoltenberg, P. Surén, E. Susser, J. Sweeney, P. Szatmari, Lara Tang, F. Tassone, K. Teufel, E. Trabetti, M. P. Trelles, C. Walsh, L. Weiss, T. Werge, Donna M. Werling, Emilie M. Wigdor, E. Wilkinson, A. Willsey, T. Yu, M. Yu, R. Yuen, E. Zachi, E. Agerbo, T. Als, Vivek Appadurai, Marie Bækvad-Hansen, R. Belliveau, A. Buil, C. Carey, Felecia Cerrato, K. Chambert, C. Churchhouse, S. Dalsgaard, D. Demontis, Ashley L. Dumont, J. Goldstein, C. Hansen, M. Hauberg, M. Hollegaard, D. Howrigan, Hailiang Huang, J. Maller, Alicia R. Martin, Joanna Martin, M. Mattheisen, J. Moran, Jonatan Pallesen, D. Palmer, C. Pedersen, M. Pedersen, T. Poterba, J. Poulsen, S. Ripke, A. Schork, W. Thompson, P. Turley, R. Walters +189 moresemanticscholar +1 more source
