Results 91 to 100 of about 3,068 (175)

Creation of a database for evaluating the effect of genetic intellectual property on genetic diagnostic testing [PDF]

, 2006
Thesis (S.B.)--Massachusetts Institute of Technology, Dept. of Mechanical Engineering, 2006.Includes bibliographical references (leaves 33-34).In this study, we explore the impact of gene-based patents on the pricing and availability of genetic ...
Murray, Philip (Philip E.)
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Central Nervous System Vascular Malformations [PDF]

, 2012
32 page ...
Andrew S. Davidson, Marcus A. Stoodley
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Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling [PDF]

, 2018
Based on the latest gnomAD dataset, the prevalence of symptomatic hereditary cerebral cavernous malformations (CCMs) prone to cause epileptic seizures and stroke-like symptoms was re-evaluated in this review and calculated to be 1:5,400-1:6,200 ...
Felbor, Ute, Paperlein, Christin, Rath, Matthias, Spiegler, Stefanie   +3 more
core   +1 more source

Congenital vascular malformations update [PDF]

, 2014
Presently, there is controversy and misconception in the diagnosis and management of most congenital vascular malformations. The aim of this manuscript is to identify the current knowledge of these poorly understood and relatively uncommon pathologies ...
Albores Figueroa, Rosemberg, Gómez Danés, Luis Humberto, Hernández Sánchez, Marely, Montes Tapia, Fernando Félix, Rendón Elías, Felipe   +4 more
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Familial Cerebral Cavernous Malformation in a Filipino Familye

International Journal For Multidisciplinary Research
Background of the Study Cerebral cavernous malformation is a type of vascular malformations characterized by the absence of intervening brain parenchyma. Cerebral cavernous malformations are of two forms, sporadic and familial. About 0.4-0.8% of the population are affected as assessed based on MRI findings and postmortem findings.
Maria Veronica Comandao -, Christopher Concepcion -   +1 more
openaire   +1 more source

Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Pathogenic Variant [PDF]

, 2021
OBJECTIVES: To identify fetal familial cerebral cavernous malformation (CCMs) and a novel mutation. METHODS: A 37-year-old pregnant woman (G4P0) presented right-handed numbness since two weeks at 31 weeks of gestation.
Barkhof, F, Cheng, D, Gao, W, Liu, Y, Shang, X   +4 more
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Patient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial

Frontiers in Neurology
BackgroundThe Phase 1/2 Treat_CCM randomized controlled trial for people with familial cerebral cavernous malformations (FCCMs) confirmed the safety of propranolol and suggested beneficial effects on intracerebral hemorrhage or new focal neurological ...
Jennifer M. T. A. Meessen, Giorgia Abete-Fornara, Barbara Zarino, Marco Castori, Laura Tassi, Maria R. Carriero, Q. G. D'Alessandris, R. Al-Shahi Salman, Adriana Blanda, Enrico B. Nicolis, Deborah Novelli, Maria Caruana, Antonella Vasamì, Silvia Lanfranconi, Roberto Latini   +14 more
doaj   +1 more source

Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study. [PDF]

Neuroradiology, 2023
Geraldo AF, Alves CAPF, Luis A, Tortora D, Guimarães J, Abreu D, Reimão S, Pavanello M, de Marco P, Scala M, Capra V, Vaz R, Rossi A, Schwartz ES, Mankad K, Severino M.   +15 more
europepmc   +1 more source

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition [PDF]

, 2017
We have studied a family with severe mental retardation characterized by the virtual absence of speech, autism spectrum disorder, epilepsy, late-onset ataxia, weakness and dystonia.
Feldman, Gerald, Friez, Michael J., Garbern, James Y., Lee, Virginia M.-Y, Neumann, Manuela, Norris, Joy W., Schwartz, Charles E., Sima, Anders A. F., Stevenson, Roger, Trojanowski, John Q.   +9 more
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Circulating Plasma miRNA Homologs in Mice and Humans Reflect Familial Cerebral Cavernous Malformation Disease. [PDF]

Transl Stroke Res, 2023
Romanos SG, Srinath A, Li Y, Xie B, Chen C, Li Y, Moore T, Bi D, Sone JY, Lightle R, Hobson N, Zhang D, Koskimäki J, Shen L, McCurdy S, Lai CC, Stadnik A, Piedad K, Carrión-Penagos J, Shkoukani A, Snellings D, Shenkar R, Sulakhe D, Ji Y, Lopez-Ramirez MA, Kahn ML, Marchuk DA, Ginsberg MH, Girard R, Awad IA.   +29 more
europepmc   +1 more source