Zobrazeno 1 - 10 of 13 pro vyhledávání: '"Jenna Gaesser"'
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Akademický článek
Clinical factors associated with microstructural connectome related brain dysmaturation in term neonates with congenital heart disease
Autor: Jodie K. Votava-Smith, Jenna Gaesser, Anna Lonyai Harbison, Vince Lee, Nhu Tran, Vidya Rajagopalan, Sylvia del Castillo, S. Ram Kumar, Elizabeth Herrup, Tracy Baust, Jennifer A. Johnson, George C. Gabriel, William T. Reynolds, Julia Wallace, Benjamin Meyers, Rafael Ceschin, Cecilia W. Lo, Vanessa J. Schmithorst, Ashok Panigrahy
Publikováno v: Frontiers in Neuroscience, Vol 16 (2022)
ObjectiveTerm congenital heart disease (CHD) neonates display abnormalities of brain structure and maturation, which are possibly related to underlying patient factors, abnormal physiology and perioperative insults. Our primary goal was to delineate
Externí odkaz: https://doaj.org/article/7b940e0985d74517948688f5516069fd
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3
Brain and spine MRI findings in children presenting with TMCO1 mutation
Autor: Charith Ratnayake, Srikala Narayanan, Jenna Gaesser, Subramanian Subramanian
Publikováno v: BJR|case reports.
Cerebrofaciothoracic dysplasia (CFTD) is a developmental disorder characterized by distinctive craniofacial dysmorphism, global developmental delay, and skeletal anomalies. CTFD is the result of biallelic autosomal recessive loss of function mutation
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7121ee8197cc09bb199ed3949b842339
https://doi.org/10.1259/bjrcr.20210253
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4
Clinical Reasoning: A 14-year-old boy with acute weakness, paresthesias, and headache
Autor: Jenna Gaesser, Hoda Z. Abdel-Hamid, Daniel Guillen, Ronald R. Seese
Publikováno v: Neurology. 95:e1285-e1289
A 14-year-old boy with a history of atrial tachycardia presented to the emergency department with acute right foot weakness. One month prior to presentation, he had a self-resolving diarrheal illness and bacterial pneumonia treated with antibiotics.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b529a19aaf70ba922438fdf86fd800e
https://doi.org/10.1212/wnl.0000000000010088
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Mispatterned motile cilia beating causes flow blockage in the epileptic brain
Autor: Regina J. Faubel, Veronica S. Santos Canellas, Jenna Gaesser, Nancy H. Beluk, Tim N. Feinstein, Yong Wang, Maya Yankova, Kalyani Bindu, Stephen M. King, Madhavi K. Ganapathiraju, Cecilia W. Lo
Beating of motile cilia at the brain ventricular surface generates rapid flow in an evolutionary conserved pattern mediating the transport of cerebrospinal fluid, but its functional importance has yet to be demonstrated. Here we show disturbance of t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ad48279469f8d4796dd770d47cfe9cde
https://doi.org/10.1101/2021.10.29.465023
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Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Autor: Randy M. Windreich, Jacqui Russell, Hanka Venselaar, Iris Hannibal, Matias Wagner, Nicole I. Wolf, Sergio Guerrero-Castillo, Russell C. Dale, Celina von Stülpnagel, Carlos E. Prada, Ron A. Wevers, Alfredo Cabrera-Orefice, Dagmara Mróz, John Christodoulou, Saskia B. Wortmann, Jenna Gaesser, Søren W Gersting, Hubert Wyszkowski, Uta Lichter-Konecki, Johannes A. Mayr, Robert B. Lorsbach, Denisa Weis, Carolyn Ellaway, René G. Feichtinger, Kasiani C. Myers, Szymon Ziętkiewicz
Publikováno v: Genetics in Medicine, 23(9), 1705-1714. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 9, pp. 1705-1714
Wortmann, S B, Ziętkiewicz, S, Guerrero-Castillo, S, Feichtinger, R G, Wagner, M, Russell, J, Ellaway, C, Mróz, D, Wyszkowski, H, Weis, D, Hannibal, I, von Stülpnagel, C, Cabrera-Orefice, A, Lichter-Konecki, U, Gaesser, J, Windreich, R, Myers, K C, Lorsbach, R, Dale, R C, Gersting, S, Prada, C E, Christodoulou, J, Wolf, N I, Venselaar, H, Mayr, J A & Wevers, R A 2021, ' Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency ', Genetics in Medicine, vol. 23, no. 9, pp. 1705-1714 . https://doi.org/10.1038/s41436-021-01194-x
Genet. Med. 23, 1705-1714 (2021)
Genetics in Medicine, 23, 1705-1714
Contains fulltext : 238254.pdf (Publisher’s version ) (Closed access) PURPOSE: To investigate monoallelic CLPB variants. Pathogenic variants in many genes cause congenital neutropenia. While most patients exhibit isolated hematological involvement,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f62b41dcc81b758a412fe7fecd8ba73
https://pubmed.ncbi.nlm.nih.gov/34302123
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A computational framework for the detection of subcortical brain dysmaturation in neonatal MRI using 3D Convolutional Neural Networks
Autor: Rafael Ceschin, Jenna Gaesser, Alexandria Zahner, Vanathi Gopalakrishnan, William T Reynolds, Giulio Zuccoli, Cecilia W. Lo, Ashok Panigrahy
Publikováno v: NeuroImage. 178:183-197
Deep neural networks are increasingly being used in both supervised learning for classification tasks and unsupervised learning to derive complex patterns from the input data. However, the successful implementation of deep neural networks using neuro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::712614b7a08fb3ecf052624e79be95ac
https://doi.org/10.1016/j.neuroimage.2018.05.049
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