Results 41 to 50 of about 3,068 (175)

Cranial nerve cavernous malformations causing trigeminal neuralgia and chiasmal apoplexy: report of 2 cases and review of literature [PDF]

, 2012
Objective: To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients.
Andrade, Juliana Gabriel Ribeiro de, Gil-da-Silva-Lopes, Vera Lúcia, Guerra-Júnior, Gil, Maciel-Guerra, Andréa Trevas, Paulo, Juliana de, Santos, Ana Paula dos   +5 more
core   +6 more sources

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene [PDF]

, 2015
Multiple familial meningiomas occur in rare genetic syndromes, particularly neurofibromatosis type 2. The association of meningiomas and cerebral cavernous malformations (CCMs) has been reported in few patients in the medical literature.
Al-Shahi Salman R, Batra S, de Champfleur NM, DeAngelis LM, Haasdijk RA, Labauge P, Lehnhardt FG, Marosi C, Riant F, Riemenschneider MJ, Schröder W, Shen Y, Spiegler S, Whittle IR, Zabramski JM   +14 more
core   +1 more source

Upregulation of transmembrane endothelial junction proteins in human cerebral cavernous malformations [PDF]

, 2010
OBJECT: Cerebral cavernous malformations (CCMs) are among the most prevalent cerebrovascular malformations, and endothelial cells seem to play a major role in the disease.
Chappell PM, Felbor U, Hilder TL, Revencu N, Robinson JR, Stahl S, Tsukita S, Vestweber D, Zhu Y   +8 more
core   +1 more source

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)

Antioxidants, 2022
Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta   +6 more
doaj   +1 more source

Zebrafish models of cerebrovascular disease [PDF]

, 2014
Perturbations in cerebral blood flow and abnormalities in blood vessel structure are the hallmarks of cerebrovascular disease. While there are many genetic and environmental factors that affect these entities through a heterogeneous group of disease ...
Peterson, Randall T, Walcott, Brian P
core   +1 more source

Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations

Orphanet Journal of Rare Diseases, 2021
Background Vascular malformations in the central nervous system are difficult to monitor and treat due to their inaccessible location. Angiogenic and inflammatory proteins are secreted into the bloodstream and may serve as useful biomarkers for ...
Sarah E. Wetzel-Strong, Shantel Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Dewi Clark, Mark D. Starr, Yingmiao Liu, Helen Kim, Marie E. Faughnan, Andrew B. Nixon, Douglas A. Marchuk   +10 more
doaj   +1 more source

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

Frontiers in Neurology, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities.
Christian Thomas, Andrea Zühlsdorf, Konstanze Hörtnagel, Lejla Mulahasanovic, Oliver M. Grauer, Philipp Kümpers, Heinz Wiendl, Sven G. Meuth   +7 more
doaj   +1 more source

Recent Advances in Basic Research for Brain Arteriovenous Malformation. [PDF]

, 2019
Arteriovenous malformations (AVMs) are abnormal connections of vessels that shunt blood directly from arteries into veins. Rupture of brain AVMs (bAVMs) can cause life-threatening intracranial bleeding. Even though the majority of bAVM cases are sporadic
Barbosa Do Prado, Leandro, Han, Chul, Oh, S Paul, Su, Hua   +3 more
core   +2 more sources

Familial cerebral cavernous malformation.

Folia neuropathologica, 2012
Cavernous malformations (CMs) occur in approximately 0.5% of the general population and represent 5-10% of the central nervous system vascular malformations. The majority of CMs appear sporadically but genetically determined familial forms account for 10% to 15% of all cases.
Dziedzic T, Kunert P, Matyja E, Ziora Jakutowicz K, SIDOTI, Antonina, Marchel A.   +5 more
openaire   +3 more sources

Typical and atypical imaging characteristics [PDF]

, 2022
Funding Information: No funds, grants, or other support was received. Publisher Copyright: © 2022 The Authors. Journal of Neuroimaging published by Wiley Periodicals LLC on behalf of American Society of Neuroimaging.Cavernous malformations (CMs) are ...
Castillo, Mauricio, Cunha, Bruno, Kuroedov, Danila, Pamplona, Jaime, Ramalho, Joana   +4 more
core   +2 more sources