Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lauren Dengle"'
Autor:
Kyle Robbins, BS, Patrick Arraj, BS, Lauren Dengle Sanchez, MD, Nikhil Godiyal, Daniel L. Veltkamp, MD, Cory M. Pfeifer, MD, MPH
Publikováno v:
Radiology Case Reports, Vol 16, Iss 1, Pp 116-118 (2021)
Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age. Imaging findings demonstrated widespread white mat
Externí odkaz:
https://doaj.org/article/03cf7b6b27124b23b4e4508d80129b1c
Autor:
Patrick Arraj, BS, Kyle Robbins, BS, Lauren Dengle Sanchez, MD, Daniel L. Veltkamp, MD, Cory M. Pfeifer, MD, MPH
Publikováno v:
Radiology Case Reports, Vol 16, Iss 1, Pp 113-115 (2021)
Juvenile Huntington's disease is a rare neurodegenerative disorder that first affects the basal ganglia. Presented here is a case of juvenile Huntington's disease in an 8-year-old male. Clinical features included epilepsy and developmental delay. Ima
Externí odkaz:
https://doaj.org/article/e0ffed99b4f34c4c9a582ffdbe7abe5f
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:
Lauren Dengle, Lauren Brady, Mark A. Tarnopolsky, Katrina Haude, Brittany N. Whitley, Luis F. Escobar, Hong Cui, Ian A. Glass, Sharyn A. Lincoln, Christina Lam, Renkui Bai, Afifa Hamilton, Suzanne Hoppins, Laura L. Lackner, Jonathan Picker
Publikováno v:
Human molecular genetics. 27(21)
Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63132412b41e799aedf2aa77a018bd6d
https://pubmed.ncbi.nlm.nih.gov/30085106
https://pubmed.ncbi.nlm.nih.gov/30085106
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 (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6841ce88eed7ab54836bbf1749248db4
https://doi.org/10.1186/s13073-017-0472-7
https://doi.org/10.1186/s13073-017-0472-7
Autor:
Whitley, Brittany N, Lam, Christina, Cui, Hong, Haude, Katrina, Bai, Renkui, Escobar, Luis, Hamilton, Afifa, Brady, Lauren, Tarnopolsky, Mark A, Dengle, Lauren
Publikováno v:
Human Molecular Genetics; 11/1/2018, Vol. 27 Issue 21, p3710-3719, 10p