Results 171 to 180 of about 8,369 (198)

Variable expression of cerebral cavernous malformation in carriers of a premature termination codon in exon 17 of the Krit1 gene [PDF]

, 2003
Costa Martins, Alzenira de Fátima, García Moreno, José Manuel, Izquierdo Ayuso, Guillermo, Lucas Lucas, Miguel, Solano Manchego, Francisca   +4 more
core  

Large language models assisted multi-effect variants mining on cerebral cavernous malformation familial whole genome sequencing. [PDF]

Comput Struct Biotechnol J
Wang Y, Zuo J, Duan C, Peng H, Huang J, Zhao L, Zhang L, Dong Z.   +7 more
europepmc   +1 more source

Cerebral cavernous venous malformations

, 2019
openaire   +1 more source

Cerebral cavernous malformation - large

, 2013
openaire   +1 more source

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Pediatric Cerebral Cavernous Malformations

Pediatric Neurology, 2021
Cerebral cavernous malformations are the second most common vascular malformations in the central nervous system, and over one-third are found in children. Lesions may be solitary or multiple, be discovered incidentally, be sporadic, or be secondary to familial cavernomatosis or radiation therapy.
Michael Paddock, Sarah Lanham, Kanwar Gill, Saurabh Sinha, Daniel J.A. Connolly   +4 more
openaire   +2 more sources

Cerebral Cavernous Malformations

New England Journal of Medicine, 2017
A 59-year-old man presented with a 1-year history of progressively worsening headaches. Imaging revealed multiple lesions, and genetic analysis confirmed a diagnosis of the familial cerebral cavernous malformation syndrome.
Ithamar, Ganmore, Anat, Achiron
openaire   +3 more sources

Cerebral cavernous malformations

Neurology, 2002
To find mutations in the recently identified additional exons of the Krit1 gene that causes CCM1, a disease characterized by the formation of cerebral cavernous malformations (CCM). To determine the relative frequency with which Krit1 mutations cause CCM as well as recharacterize the mutations reported in the literature.Twenty-seven families and 11 ...
D J, Verlaan, W J, Davenport, H, Stefan, U, Sure, A M, Siegel, G A, Rouleau   +5 more
openaire   +2 more sources

Cerebral Cavernous Malformations

Archives of Neurology, 1989
To the Editor. —In the February 1989 issue of theArchives, Allard et al 1 described several members of a family who had multiple lesions noted on magnetic resonance imaging that were termed arteriovenous malformations . These lesions, however, have the characteristic magnetic resonance imaging appearance of cavernous malformations (angiomas), another ...
K. S. Lee, R. F. Spetzler
openaire   +1 more source

Genetics of cerebral cavernous malformations

Current Neurology and Neuroscience Reports, 2005
The past few years have seen rapid advances in our understanding of the genetics and molecular biology of cerebral cavernous malformations (CCM). This article summarizes the recent cloning of the CCM1, CCM2, and CCM3 genes, which are responsible for autosomal dominant CCM, and also describes current hypotheses for their roles in integrin and p38 ...
Nicholas W, Plummer, Jon S, Zawistowski, Douglas A, Marchuk   +2 more
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Cerebral Cavernous Malformations (CCM)

2020
This volume provides experimental approaches aimed to characterize the Cerebral Cavernous Malformations (CCM) disease and to define the cellular and molecular mechanisms underlying this pathology. Chapters are divided into four sections providing a general overview of the natural history, epidemiology, and pathogenetic mechanisms of CCM disease ...
Lorenza Trabalzini, Federica Finetti, Saverio Francesco Retta   +2 more
openaire   +1 more source