Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Katerina S. Kucera"'
Autor:
Sarah Nelson Potter, Brooke Migliore, Javan Carter, Veronica R. Copeland, Edward C. Smith, Holly L. Peay, Katerina S. Kucera
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 2, p 41 (2024)
Duchenne muscular dystrophy (DMD) is an X-linked progressive disorder and the most common type of muscular dystrophy in children. As newborn screening (NBS) for DMD undergoes evaluation for the Recommended Uniform Screening Panel and is already manda
Externí odkaz:
https://doaj.org/article/3214ada3bb3645089116a8f01c809732
Autor:
Paul Dantonio, Norma P. Tavakoli, Brooke Migliore, Elizabeth McCown, Timothy Lim, Sunju Park, Michele Caggana, Katerina S. Kucera, Han Phan, Natalie Street, Konstantinos Petritis, Robert F. Vogt
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 1, p 13 (2023)
Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program
Externí odkaz:
https://doaj.org/article/50059432012c4dfe8f39ab3fe2862908
Autor:
Brooke A. Migliore, Linran Zhou, Martin Duparc, Veronica R. Robles, Catherine W. Rehder, Holly L. Peay, Katerina S. Kucera
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 12 (2022)
Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder with a birth prevalence of 19.8:100,000 males worldwide. Elevated concentration of the muscle enzyme creatine kinase-MM (CK-MM) allows for presymptomatic screening of newborns using Dried
Externí odkaz:
https://doaj.org/article/35df2e0d5a154125820dd52ff3857963
Autor:
Katerina S. Kucera, Jennifer L. Taylor, Veronica R. Robles, Kristin Clinard, Brooke Migliore, Beth Lincoln Boyea, Katherine C. Okoniewski, Martin Duparc, Catherine W. Rehder, Scott M. Shone, Zheng Fan, Melissa Raspa, Holly L. Peay, Anne C. Wheeler, Cynthia M. Powell, Donald B. Bailey, Lisa M. Gehtland
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 20 (2021)
Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December
Externí odkaz:
https://doaj.org/article/ba63968da0e7435f8c7b06b3c82ea9f7
Publikováno v:
Microbiology Spectrum. 11
Implementation of screening for cCMV in public health programs is hindered by feasibility challenges, including limited specimen availability and an insufficiently sensitive DBS-based screening assay. We report on efforts to improve the currently ava
Autor:
Evelina Fedorenko, Simon E. Fisher, Zachary Mineroff, Julia Udden, Peter Hagoort, Arianna Vino, Annika Hultén, Katarina Bendtz, Katerina S. Kucera
Publikováno v:
J Neurosci
The Journal of Neuroscience, 39, 44, pp. 8778-8787
Journal of Neuroscience
The Journal of Neuroscience, 39, 8778-8787
The Journal of Neuroscience, 39, 44, pp. 8778-8787
Journal of Neuroscience
The Journal of Neuroscience, 39, 8778-8787
Contains fulltext : 209184.pdf (Publisher’s version ) (Open Access) A commonly held assumption in cognitive neuroscience is that, because measures of human brain function are closer to underlying biology than distal indices of behaviour/cognition,
Autor:
Beth Boyea, Anne Wheeler, Katherine Charlotte Okoniewski, Holly L. Peay, Scott M. Shone, Katerina S. Kucera, Melissa Raspa, Lisa M. Gehtland, Donald B. Bailey, Kristin Clinard, Catherine Rehder, Veronica R. Robles, Cynthia M. Powell, Martin Duparc, Jennifer L. Taylor, Brooke Migliore, Zheng Fan
Publikováno v:
International Journal of Neonatal Screening
Volume 7
Issue 1
International Journal of Neonatal Screening, Vol 7, Iss 20, p 20 (2021)
Volume 7
Issue 1
International Journal of Neonatal Screening, Vol 7, Iss 20, p 20 (2021)
Prior to statewide newborn screening (NBS) for spinal muscular atrophy (SMA) in North Carolina, U.S.A., we offered voluntary screening through the Early Check (EC) research study. Here, we describe the EC experience from October 2018 through December
Autor:
Anton V. Sidoroff-Dorso, Joery den Hoed, Duncan Carmichael, Jamie Ward, Beate St Pourcain, Simon E. Fisher, Loes van den Heuvel, Julia Simner, Arianna Vino, Amanda K. Tilot, Romke Rouw, Archie Campbell, Tessa M. van Leeuwen, David J. Porteous, Katerina S. Kucera
Publikováno v:
Tilot, A K, Vino, A, Kucera, K S, Carmichael, D A, van den Heuvel, L, den Hoed, J, Sidoroff-Dorso, A V, Campbell, A, Porteous, D J, St Pourcain, B, van Leeuwen, T M, Ward, J, Rouw, R, Simner, J & Fisher, S E 2019, ' Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits ', Philosophical Transactions B: Biological Sciences, vol. 374, no. 1787 . https://doi.org/10.1098/rstb.2019.0026
Philosophical Transactions of the Royal Society B-Biological Sciences, 374(1787):20190026. Royal Society of London
Philosophical Transactions of the Royal Society B: Biological Sciences, 374(1787), 1-11. ROYAL SOC
Philosophical Transactions-Royal Society. Biological Sciences, 374, 1-11
Tilot, A K, Vino, A, Kucera, K S, Carmichael, D A, van den Heuvel, L, den Hoed, J, Sidoroff-Dorso, A V, Campbell, A, Porteous, D J, St Pourcain, B, van Leeuwen, T M, Ward, J, Rouw, R, Simner, J & Fisher, S E 2019, ' Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits ', Philosophical Transactions of the Royal Society B: Biological Sciences, vol. 374, no. 1787, pp. 20190026 . https://doi.org/10.1098/rstb.2019.0026
Philosophical Transactions-Royal Society. Biological Sciences, 374, 1787, pp. 1-11
Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences
Philosophical Transactions of the Royal Society B-Biological Sciences, 374(1787):20190026. Royal Society of London
Philosophical Transactions of the Royal Society B: Biological Sciences, 374(1787), 1-11. ROYAL SOC
Philosophical Transactions-Royal Society. Biological Sciences, 374, 1-11
Tilot, A K, Vino, A, Kucera, K S, Carmichael, D A, van den Heuvel, L, den Hoed, J, Sidoroff-Dorso, A V, Campbell, A, Porteous, D J, St Pourcain, B, van Leeuwen, T M, Ward, J, Rouw, R, Simner, J & Fisher, S E 2019, ' Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits ', Philosophical Transactions of the Royal Society B: Biological Sciences, vol. 374, no. 1787, pp. 20190026 . https://doi.org/10.1098/rstb.2019.0026
Philosophical Transactions-Royal Society. Biological Sciences, 374, 1787, pp. 1-11
Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences
Synaesthesia is a neurological phenomenon affecting perception, where triggering stimuli (e.g. letters and numbers) elicit unusual secondary sensory experiences (e.g. colours). Family-based studies point to a role for genetic factors in the developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0896e4b2da5b3be4a3c1ec15bc26de5
https://hdl.handle.net/1983/41f5bebc-d4ee-45a6-97c1-c1749431e9b4
https://hdl.handle.net/1983/41f5bebc-d4ee-45a6-97c1-c1749431e9b4
Autor:
Simon E. Fisher, Amanda K. Tilot, Romke Rouw, Jamie Ward, Anton V. Sidoroff-Dorso, Joery den Hoed, Archie Campbell, Tessa M. van Leeuwen, Arianna Vino, Beate St Pourcain, David J. Porteous, Julia Simner, Katerina S. Kucera, Loes van den Heuvel, Duncan Carmichael
Publikováno v:
Philosophical Transactions-Royal Society. Biological Sciences, 375, 1795, pp. 1-2
Philosophical Transactions-Royal Society. Biological Sciences, 375, 1-2
Philos Trans R Soc Lond B Biol Sci
Philosophical Transactions-Royal Society. Biological Sciences, 375, 1-2
Philos Trans R Soc Lond B Biol Sci
Synaesthesia is a neurological phenomenon affecting perception, where triggering stimuli (e.g. letters and numbers) elicit unusual secondary sensory experiences (e.g. colours). Family-based studies point to a role for genetic factors in the developme
Autor:
Lingyun Song, Florencia Pauli, Jason Gertz, Gregory E. Crawford, Kimberly M. Newberry, Barbara J. Wold, Katerina S. Kucera, Richard M. Myers, Huntington F. Willard, Timothy E. Reddy, Georgi K. Marinov, Katherine E. Varley, Brian A. Williams, Ali Mortazavi
Publikováno v:
Genome Research
A complex interplay between transcription factors (TFs) and the genome regulates transcription. However, connecting variation in genome sequence with variation in TF binding and gene expression is challenging due to environmental differences between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72a5b20116a769f554f21c5f5f6bc86
https://hdl.handle.net/11858/00-001M-0000-000F-A98B-A11858/00-001M-0000-000F-A98A-C11858/00-001M-0000-000F-A988-011858/00-001M-0000-000F-A98C-811858/00-001M-0000-000F-A989-E
https://hdl.handle.net/11858/00-001M-0000-000F-A98B-A11858/00-001M-0000-000F-A98A-C11858/00-001M-0000-000F-A988-011858/00-001M-0000-000F-A98C-811858/00-001M-0000-000F-A989-E