Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Saunder Bernes"'
Autor:
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Abstract Background Exon-targeted microarrays can detect small (
Externí odkaz:
https://doaj.org/article/e6f31aabb43544b3bfd37c91bba99006
Autor:
Timothy Lotze, Elizabeth Mizerik, Rajarshi Ghosh, Saunder Bernes, Diana Bharucha-Goebel, Rui Xiao, Lorraine Potocki, Carrie A. Mohila, Jaehyung Lim, Weimin Bi, Suzanne L. Woodbury, Molly E. Kuo, Kathleen Crosby, Carsten G. Bönnemann, William Hong, Anthony Antonellis, Rebecca Markovitz, Pranoot Tanpaiboon, Stephanie Manberg
Publikováno v:
Am J Med Genet A
The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1. However, there have been reports of SMA-like disorders that are independent of SMN1, including those due to pathogenic variants
Autor:
David Grabli, Wendy H. Raskind, Oriane Trouillard, Steven Parrish Winesett, Domitille Gras, Thomas D. Bird, Bertrand Degos, Marie Y. Davis, Nathalie Damon-Perrière, Emily Bonkowski, Cyril Mignot, Phillip D. Swanson, Laura M. Amendola, Alona Gad, Michael O. Dorschner, Aurélie Méneret, Jennifer Friedman, Christine Tranchant, Marie Vidailhet, Evan E. Eichler, Holly A.F. Stessman, Mathieu Anheim, Ali Torkamani, Saunder Bernes, Dong Hui Chen, Olena Korvatska, Fuki M. Hisama, Katherine M. Mackenzie, Diane Doummar, Michael D. Weiss, Emmanuel Roze
Publikováno v:
Neurology. 85:2026-2035
Objective: To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 ( ADCY5 )–related dyskinesia and genotype–phenotype relationship. Methods: We analyzed ADCY5 in patients with choreiform or dystonic movements by e
Autor:
Diana Castro, Julia Wang, Honzheng Dai, Vikas Bhambhani, Samantha A. Schrier Vergano, Vikki Stefans, Ayman W. El-Hattab, Fatma Al Jasmi, Catherine Long, Emily Kim, Lee-Jun C. Wong, Hannes Vogel, Saunder Bernes
Publikováno v:
Molecular genetics and metabolism. 124(2)
Mitochondrial DNA maintenance (mtDNA) defects have a wide range of causes, each with a set of phenotypes that overlap with many other neurological or muscular diseases. Clinicians face the challenge of narrowing down a long list of differential diagn
Autor:
Ahmet Kurdoglu, Daphne E. deMello, John D. Carpten, Megan Russell, Matthew J. Huentelman, Lisa Baumbach-Reardon, Chris Balak, Saunder Bernes, Winnie S. Liang, Jason J. Corneveaux, Mary Ellen Ahearn, Judith G. Hall, David Craig, Jesse M. Hunter, Stephen W. Coons
Publikováno v:
Molecular Genetics & Genomic Medicine
Neuromuscular diseases (NMD) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic variants that res
Autor:
Christian P. Schaaf, Janice L. Smith, Rachel Westman, Ronit Marom, Laurence Faivre, Pawel Stankiewicz, Patricia I. Bader, Myla Ashfaq, Hsiao-Tuan Chao, Monica Proud, Hope Northrup, Lindsay E. Elton, Seema R. Lalani, Yaping Yang, Chester W. Brown, Kimberly Nugent, Lauren Dengle, James R. Lupski, Sandesh C.S. Nagamani, Heather G. Petrie, Bo Yuan, Robert Wildin, Carlos A. Bacino, Chad A. Shaw, Tomasz Gambin, Hannele Koillinen, La Donna Immken, Edward P. Buchanan, Zeynep Coban-Akdemir, Ankita Patel, Lisa Emrick, Diane Treadwell-Deering, Anita E. Beck, Nora Urraca, Sau Wai Cheung, Elizabeth Roeder, Amy M. Breman, Mathilde Lefebvre, Arthur L. Beaudet, Amber N. Pursley, Gary Bellus, Sung Hae L. Kang, Sailaja Golla, Jill A. Rosenfeld, Reuben Matalon, Michael P. Cummings, Pengfei Liu, Roya Mostafavi, Saunder Bernes, Shaun Varghese, Magdalena Walkiewicz, Weimin Bi
Publikováno v:
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Background Exon-targeted microarrays can detect small (
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary figure presenting CNVs in CSMD1, including de novo (red), inherited (blue), and deletions of unknown inheritance (green). (PPTX 95 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49a7cdbc5ea98210dbaada9c2a372867
Autor:
Gambin, Tomasz, Yuan, Bo, Weimin Bi, Pengfei Liu, Rosenfeld, Jill, Coban-Akdemir, Zeynep, Pursley, Amber, Sandesh Nagamani, Marom, Ronit, Sailaja Golla, Dengle, Lauren, Petrie, Heather, Matalon, Reuben, Emrick, Lisa, Proud, Monica, Treadwell-Deering, Diane, Hsiao-Tuan Chao, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Saunder Bernes, Roeder, Elizabeth, Nugent, Kimberly, Bader, Patricia, Bellus, Gary, Cummings, Michael, Northrup, Hope, Myla Ashfaq, Westman, Rachel, Wildin, Robert, Beck, Anita, Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian, Walkiewicz, Magdalena, Yaping Yang, Sung-Hae Kang, Lalani, Seema, Bacino, Carlos, Beaudet, Arthur, Breman, Amy, Smith, Janice, Cheung, Sau, Lupski, James, Ankita Patel, Shaw, Chad, PaweĹ Stankiewicz
Supplementary figure presenting CNVs in AGBL4, including de novo (red), inherited (blue), and deletions of unknown inheritance (green). (PDF 104 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33c613e85a92b9e24c1ee96dde04b0f1
Publikováno v:
Journal of the Neurological Sciences. 279:109-113
Objective X-linked Charcot Marie Tooth disease (CMT1X) is a hereditary demyelinating neuropathy caused by mutations in the GJB1 gene encoding the gap junction protein connexin 32 (Cx32). Some GJB1 mutations have been reported to cause transient clini
Publikováno v:
Journal of pediatric surgery. 51(7)
Introduction Myasthenia gravis (MG) is an autoimmune disorder of the postsynaptic neuromuscular junction resulting in fatigability of voluntary muscles. There has been increasing evidence supporting thymectomy for MG in adults, and evidence for the r