Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Edmond J. FitzGibbon"'
Publikováno v:
Data in Brief, Vol 39, Iss , Pp 107449- (2021)
This article reports quantitative measurements of intracranial volume, optic canal area, and peripapillary retinal nerve fiber layer (RNFL) for a cohort of 124 patients with craniofacial fibrous dysplasia/McCune-Albright Syndrome (FD/MAS), previously
Externí odkaz:
https://doaj.org/article/7d871158b9f94d4c9201c0d84cad3e93
Autor:
Marcus Y. Chen, Edmond J. FitzGibbon, William A. Gahl, Skand Shekhar, Fady Hannah-Shmouni, Beth Solomon, Rahul Dave, Leora E. Comis, Juvianee Estrada-Veras, Kevin O'Brien, Bernadette R. Gochuico
Publikováno v:
Journal of the National Comprehensive Cancer Network. 19:1312-1318
Adult-onset histiocytoses (AOH), primarily Rosai-Dorfman disease (RDD), Erdheim-Chester Disease (ECD), and adult Langerhans cell histiocytosis (ALCH), are a group of related histiocytic neoplastic disorders featuring multisystemic manifestations. The
Publikováno v:
Journal of vision. 22(12)
Natural images are typically broadband, whereas detectors in early visual processing are selective for narrow ranges of spatial frequency. White noise patterns are widely used in laboratory settings to investigate how responses are derived from Fouri
Autor:
Flavia M. Facio, Bryn D. Webb, Alan Ma, Christopher Troedson, Irini Manoli, Carmen C. Brewer, Christopher K. Zalewski, Elizabeth C. Engle, Carol Van Ryzin, Audrey Thurm, Paul R. Lee, Timothy James Maarup, Malin Kvarnung, Edmond J. FitzGibbon, Hans Ulrik Møller, Camilo Toro, Scott M. Paul, Glad Ragnhild, Jayne Antony, Omar A. Abdul-Rahman, David G. Hunter, Janice S. Lee, Katrine V. Wirgenes, Dorte Ancher Larsen, Mary C. Whitman, Caroline D. Robson, Wai-Man Chan, Kelly A. King, Tanya J. Lehky, Francis S. Collins, Brenda J. Barry, Sarah MacKinnon, Angela Delaney, Emma Tham, Konstantinia Almpani, Ethylin Wang Jabs
Publikováno v:
Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in
Autor:
Chinwenwa U. Okeagu, Seher H. Anjum, Susan Vitale, Jing Wang, Deven Singh, Lindsey B. Rosen, M. Teresa Magone, Edmond J. Fitzgibbon, Peter R. Williamson
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
Patients with cryptococcal meningitis (CM) often have ocular manifestations; although data are describing these findings in nonimmunosuppressed, previously healthy individuals are scarce.A retrospective chart review was performed for previously healt
Autor:
Susan Vitale, Janice S. Lee, Edmond J. FitzGibbon, Alison M. Boyce, Kristen S. Pan, Michael T. Collins
Publikováno v:
Journal of Bone and Mineral Research. 35:2199-2210
Optic neuropathy (ON) is a highly disabling complication of fibrous dysplasia (FD). The optimal test for identifying and monitoring ON in FD is unknown. Optical coherence tomography (OCT) is an imaging modality that detects retinal nerve fiber layer
Autor:
Cynthia J. Tifft, Laryssa A. Huryn, Catherine Groden, Jean M. Johnston, Wadih M. Zein, Camilo Toro, Malena Daich Varela, Alessandra d'Azzo, Edmond J. FitzGibbon
Publikováno v:
The British Journal of Ophthalmology
AimTo describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysosomal sialidase, neuraminidase 1 (NEU1) and to introduce a quantitative neuroretinal image analysis approach to the assoc
Publikováno v:
American Journal of Medical Genetics Part A. 182:808-812
Fundal abnormalities, including preretinal and retinal changes, are a rare finding in patients with the autosomal recessive lysosomal storage disorder Gaucher disease, most often described in patients with the chronic neuronopathic form (type 3). We
Publikováno v:
Data in Brief, Vol 39, Iss, Pp 107449-(2021)
Data in Brief
Data in Brief
This article reports quantitative measurements of intracranial volume, optic canal area, and peripapillary retinal nerve fiber layer (RNFL) for a cohort of 124 patients with craniofacial fibrous dysplasia/McCune-Albright Syndrome (FD/MAS), previously
Autor:
Kelly L Roszko, Rachel I Gafni, Susan Moran, Iris R Hartley, Roo Vold, Mike Arango, Edmond J. FitzGibbon, Jaydira Del Rivero, Jamie Streit, M. Teresa Magone, Rachel Bishop, Michael T. Collins, Karen A Pozo
Publikováno v:
Ophthalmology. 128:624-626