Results 121 to 130 of about 2,405 (204)

Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants. [PDF]

Hum Mol Genet
Sikta N, Gooley S, Green TE, Hoeper O, Witkowski T, Bennett C, Francis D, Reid J, Mao K, Awad M, Roberts-Thomson S, Bulluss K, Clark J, Scheffer IE, Perucca P, Bennett MF, Bahlo M, Berkovic SF, Hildebrand MS.   +18 more
europepmc   +1 more source

Late-onset familial cerebral cavernous malformation without a family history: a case description. [PDF]

Quant Imaging Med Surg
Zhang Z, Sun W, Wang Z, Wei L.
europepmc   +1 more source

A novel mutation associated with multiple cerebral and vertebral cavernous malformations [PDF]

core   +1 more source

KRIT1 ankyrin repeat containing (KRIT1; CCM1); cerebral cavernous malformation 2 (CCM2); programmed cell death 10 (PDCD10; CCM3) [PDF]

Science-Business eXchange, 2010
openaire   +1 more source

Silencing <i>KRIT1</i> Partially Reverses the Effects of Disturbed Flow on the Endothelial Cell Transcriptome. [PDF]

Int J Mol Sci
Meecham A, McCurdy S, Frias-Anaya E, Li W, Gallego-Gutierrez H, Nguyen P, Li YS, Chien S, Shyy JY, Ginsberg MH, Lopez-Ramirez MA.   +10 more
europepmc   +1 more source

Corrigendum: Cerebral Cavernous Malformations: Review of the Genetic and Protein–Protein Interactions Resulting in Disease Pathogenesis

Frontiers in Surgery, 2017
Jacob F. Baranoski, M. Yashar S. Kalani, Colin J. Przybylowski, Joseph M. Zabramski   +3 more
doaj   +1 more source

Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report [PDF]

core   +1 more source

Familial Cerebral Cavernous Malformations : A Clinical Series and Literature Review. [PDF]

J Korean Neurosurg Soc
Dogu H, Mucuoglu AO, Gokoglu A, Gasimli R, Tepeli E, Akdemir H.   +5 more
europepmc   +1 more source

Recurrent somatic copy number alterations in resected cerebral cavernous malformations. [PDF]

Hum Genomics
Ressler AK, Debose-Scarlett E, Fuenzalida A, Lightle R, Weinsheimer S, Faughnan ME, Spiekerkoetter E, Schimmel K, Lawton M, Kim H, Awad I, Marchuk DA.   +11 more
europepmc   +1 more source

Co-occurrence of familial cerebral cavernous malformations and tuberculous meningitis. [PDF]

Oxf Med Case Reports
Pedregosa Ii BC, Gan HH, Escabillas CG, Navarro JC.   +3 more
europepmc   +1 more source