Carol J Gallione
Overview
Explore the profile of Carol J Gallione including associated specialties, affiliations and a list of published articles.
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Articles
14
Citations
1016
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0
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Recent Articles
1.
DeBose-Scarlett E, Ressler A, Gallione C, Sapisochin Cantis G, Friday C, Weinsheimer S, et al.
Am J Hum Genet
. 2024 Sep;
111(10):2283-2298.
PMID: 39299239
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations characterized by mucocutaneous telangiectases and arteriovenous malformations (AVMs) in internal organs. HHT is caused by inheritance of a loss...
2.
Ressler A, Snellings D, Girard R, Gallione C, Lightle R, Allen A, et al.
Nat Commun
. 2023 Nov;
14(1):7009.
PMID: 37919320
Cerebral Cavernous Malformations (CCMs) are vascular malformations of the central nervous system which can lead to moderate to severe neurological phenotypes in patients. A majority of CCM lesions are driven...
3.
Wetzel-Strong S, Galeffi F, Benavides C, Patrucco M, Bullock J, Gallione C, et al.
Genetics
. 2023 Apr;
224(4).
PMID: 37098137
Sturge-Weber Syndrome (SWS) is a sporadic (non-inherited) syndrome characterized by capillary vascular malformations in the facial skin, leptomeninges, or the choroid. A hallmark feature is the mosaic nature of the...
4.
Gallione C, Detter M, Sheline A, Christmas H, Lee C, Marchuk D
Hum Genet
. 2022 Apr;
141(11):1761-1769.
PMID: 35488064
Cerebral cavernous malformations (CCM) are vascular malformations consisting of collections of enlarged capillaries occurring in the brain or spinal cord. These vascular malformations can occur sporadically or susceptibility to develop...
5.
Detter M, Shenkar R, Benavides C, Neilson C, Moore T, Lightle R, et al.
Angiogenesis
. 2020 Jul;
23(4):651-666.
PMID: 32710309
Cerebral cavernous malformations (CCMs) are ectatic capillary-venous malformations that develop in approximately 0.5% of the population. Patients with CCMs may develop headaches, focal neurologic deficits, seizures, and hemorrhages. While symptomatic...
6.
Snellings D, Gallione C, Clark D, Vozoris N, Faughnan M, Marchuk D
Am J Hum Genet
. 2019 Oct;
105(5):894-906.
PMID: 31630786
Hereditary hemorrhagic telangiectasia (HHT) is a Mendelian disease characterized by vascular malformations (VMs) including visceral arteriovenous malformations and mucosal telangiectasia. HHT is caused by loss-of-function (LoF) mutations in one of...
7.
Shenkar R, Shi C, Rebeiz T, Stockton R, McDonald D, Mikati A, et al.
Genet Med
. 2014 Aug;
17(3):188-196.
PMID: 25122144
Purpose: The phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic...
8.
McDonald D, Shi C, Shenkar R, Gallione C, Akers A, Li S, et al.
Hum Mol Genet
. 2014 Apr;
23(16):4357-70.
PMID: 24698976
Cerebral cavernous malformations (CCMs) are vascular lesions affecting the central nervous system. CCM occurs either sporadically or in an inherited, autosomal dominant manner. Constitutional (germline) mutations in any of three...
9.
Keum S, Lee H, Chu P, Kan M, Huang M, Gallione C, et al.
PLoS Genet
. 2013 Oct;
9(10):e1003807.
PMID: 24130503
During ischemic stroke, occlusion of the cerebrovasculature causes neuronal cell death (infarction), but naturally occurring genetic factors modulating infarction have been difficult to identify in human populations. In a surgically...
10.
Shirley M, Tang H, Gallione C, Baugher J, Frelin L, Cohen B, et al.
N Engl J Med
. 2013 May;
368(21):1971-9.
PMID: 23656586
Background: The Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal...