Results 121 to 130 of about 3,837 (194)

Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant. [PDF]

Acta Derm Venereol
Diociaiuti A, Bellacchio E, Cesario C, Rossi S, Zambruno G, El Hachem M.   +5 more
europepmc   +1 more source

Mouse preimplantation embryo responses to culture medium osmolarity include increased expression of CCM2 and p38 MAPK activation [PDF]

Barry Fong, Patricia H Watson, Andrew J Watson   +2 more
core   +1 more source

Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation. [PDF]

Cureus
Scott ML, Ross DE.
europepmc   +1 more source

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene. [PDF]

Neurogenetics
Pilz RA, Begemann M, Pfister S, Boonsawat P, Rauch A, Kurth I, Felbor U, Rath M.   +7 more
europepmc   +1 more source

High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins. [PDF]

Angiogenesis
Skowronek D, Pilz RA, Saenko VV, Mellinger L, Singer D, Ribback S, Weise A, Claaßen K, Büttner C, Brockmann EM, Hübner CA, Aung T, Haerteis S, Bekeschus S, Ekici AB, Felbor U, Rath M.   +16 more
europepmc   +1 more source

Obstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report. [PDF]

Radiol Case Rep
Khalil G, Raad E, Khalil MA, Hay JA.
europepmc   +1 more source

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

Genetic inactivation of the β1 adrenergic receptor prevents cerebral cavernous malformations in zebrafish. [PDF]

Elife
Li W, McCurdy S, Lopez-Ramirez MA, Lee HS, Ginsberg MH.   +4 more
europepmc   +1 more source

Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data Analysis. [PDF]

Neurology
Dammann P, Santos AN, Mavarani L, Guey S, Chabriat H, Herve D, Croft J, Renteria M, Jang D, Zhang J, Li D, Wu Z, Weng JC, Petracca A, Fusco C, D'Agruma L, Castori M, Rath M, Pilz RA, Felbor U, Steinberg GK, Gu J, Bervini D, Goldberg J, Raabe A, Cervio A, Villamil F, Rosales J, Rauschenbach L, Riess C, Oppong MD, Karadachi H, Ahmadipour Y, Wrede KH, Jabbarli R, Deuschl C, Li Y, Santos Piedade G, Köhrmann M, Frank B, Wälchli T, Schmidt B, Overstijns M, Beck J, Fung C, Al-Shahi Salman R, Flemming KD, Lanzino G, Zafar A, Weinsheimer S, Nelson J, Zabramski JM, Akers A, Morrison L, McCulloch CE, Kim H, Sure U, Brain Vascular Malformation Consortium Cerebral Cavernous Malformation Investigator Group.   +57 more
europepmc   +1 more source

Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review. [PDF]

Front Genet
Xing Y, Liu H, Liu H, Ding X, Jing X.
europepmc   +1 more source