Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Emily Tuttle"'
Autor:
Brynn Lape, Karen W. Gripp, Alex R. Paciorkowski, Wen-Hann Tan, Margot R.F. Reijnders, Diana Baralle, Bo Hoon Lee, Christopher J. Stodgell, Richard J. Leventer, Chin-To Fong, Wendy E. Smith, David Hunt, Eric D. Marsh, Emily Tuttle, Loisa Bennetto, Ahm M. Huq, Kelly Q. Minks, Stephanie A. Coury, Rupal I. Mehta, Orestes Solis, Oluwatobi Abubakare, Jennifer M. Kwon
Publikováno v:
American Journal of Medical Genetics. Part A, 176, 56-67
American Journal of Medical Genetics. Part A, 176, 1, pp. 56-67
American Journal of Medical Genetics. Part A, 176, 1, pp. 56-67
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e7395ffa3fc08d088f6e9f74f8b30b
https://doi.org/10.1002/ajmg.a.38521
https://doi.org/10.1002/ajmg.a.38521
Autor:
Marwan Shinawi, James W. Wheless, Adam Spencer, Jeanne N. Hansen, Chun Song Yang, Laura A. Jansen, Dalia Ghoneim, Alex R. Paciorkowski, Emily Tuttle, Chelsi J. Snow, William B. Dobyns, Christopher D. Smyser, Christina A. Gurnett, Sonya A. Gunter, Bryce M. Paschal, Marc W. Halterman
Publikováno v:
The American Journal of Human Genetics. 96(4):682-690
Developmental epilepsies are age-dependent seizure disorders for which genetic causes have been increasingly identified. Here we report six unrelated individuals with mutations in salt-inducible kinase 1 (SIK1) in a series of 101 persons with early m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b64caebaa97ca306b007dba0593a70
Publikováno v:
American journal of medical genetics. Part A. 173(7)
Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeec9a7e15a654ff32b45ed75d0db811
https://pubmed.ncbi.nlm.nih.gov/28464511
https://pubmed.ncbi.nlm.nih.gov/28464511
Autor:
Jeanne N. Hansen, Adil Ali, Marc W. Halterman, Alex R. Paciorkowski, Michelle Lacagnina, Christoph Pröschel, Georgia Buscaglia, Emily Tuttle
Publikováno v:
European journal of human genetics : EJHG. 25(2)
SIK1 syndrome is a newly described developmental epilepsy disorder caused by heterozygous mutations in the salt-inducible kinase SIK1. To better understand the pathophysiology of SIK1 syndrome, we studied the effects of SIK1 pathogenic sequence varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d3ed57df5d196a7f2e0106de19e6fb
https://pubmed.ncbi.nlm.nih.gov/27966542
https://pubmed.ncbi.nlm.nih.gov/27966542
Autor:
Susan L. Christian, Bryce M. Paschal, Adam Spencer, Joshua B. Kelley, William B. Dobyns, Dalia Ghoneim, Liu Lin Thio, Emily Tuttle, Alex R. Paciorkowski, Judy Weisenberg
Nuclear import receptors of the KPNA family recognize the nuclear localization signal in proteins and together with importin-β mediate translocation into the nucleus. Accordingly, KPNA family members have a highly conserved architecture with domains
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7f7d8597aafa9d57fd87257f3170ef
Autor:
Susan L. Christian, Mark I. Rees, Jonathan G. L. Mullins, William B. Dobyns, Alex R. Paciorkowski, Emily Tuttle, Robert W. Marion, Dalia Ghoneim, Seo-Kyung Chung, Daniela T. Pilz, Thomas D. Cushion, Laurie E. Seltzer
Tubulins, and microtubule polymers into which they incorporate, play critical mechanical roles in neuronal function during cell proliferation, neuronal migration, and postmigrational development: the three major overlapping events of mammalian cerebr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54219ae627d3fbe992069ee563332a3f
https://cronfa.swan.ac.uk/Record/cronfa17821
https://cronfa.swan.ac.uk/Record/cronfa17821
Publikováno v:
BMC Research Notes
Background Insertions/deletions (indels) are the second most common type of genomic variant and the most common type of structural variant. Identification of indels in next generation sequencing data is a challenge, and algorithms commonly used for i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::564292b1609df118acfaf04ccd1e02d9
Autor:
Chafkin, Max
Publikováno v:
Bloomberg Businessweek. 8/1/2022, Issue 4750, p44-47. 4p. 1 Color Photograph, 1 Cartoon or Caricature.