Results 91 to 100 of about 2,405 (204)
Cervicovaginal specimen biomarkers for early detection of ovarian and endometrial cancer: A review
Cancer Medicine, Volume 13, Issue 14, July 2024.Abstract Background In the last decade, technical innovations have resulted in the development of several minimally invasive diagnostic cancer tools. Within women at high risk of developing ovarian cancer (OC) or endometrial cancer (EC) due to a hereditary cancer syndrome, there is an urgent need for minimally invasive and patient‐friendly methods to ...
Kevin J. J. Kwinten +6 more
wiley +1 more source
Journal of the European Academy of Dermatology and Venereology, Volume 38, Issue 7, Page 1314-1328, July 2024.Abstract Vascular malformations (VMs) are clinically diverse with regard to the vessel type, anatomical location, tissue involvement and size. Consequently, symptoms and disease impact differ significantly. Diverse causative mutations in more and more genes are discovered and play a major role in the development of VMs.
M. L. E. Stor +6 more
wiley +1 more source
Frontiers in Surgery, 2016 Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions comprised of aberrantly enlarged cavernous endothelial channels that can result in cerebral ...
Jacob F. Baranoski +2 more
doaj +1 more source
Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families [PDF]
, 2018 Cavernous malformations (CCMs) are benign, well-circumscribed, and mulberry-like vascular malformations that may be found in the central nervous system in up to 0.5% of the population. Cavernous malformations can be sporadic or inherited.
Andermann, F. +11 more
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Molecular diagnosis in cerebral cavernous malformations
Neurología (English Edition), 2017 Introduction: Cerebral cavernous malformations (CCMs; OMIM 116860) are enlarged vascular cavities without intervening brain parenchyma whose estimated prevalence in the general population is between 0.1% and 0.5%.
R. Mondejar, M. Lucas
doaj +1 more source
Functional characterisation of a novel nucleoporin gene NUP98 in zebrafish embryo. [PDF]
, 2010 Oral PresentationINTRODUCTION: The nucleoporin gene nup98 is important for the regulation of cytoplasmic-nuclear trafficking. Frequent disruptions of NUP98 during chromosomal translocation in acute myeloid leukaemia suggest that it may play a role in ...
Fung, TK, Leung, AYH, Liang, RHS
core
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. [PDF]
, 2016 Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants.
Greene, Daniel +3 more
core +3 more sources
Diagnóstico molecular de cavernomatosis cerebral
Neurología, 2017 Resumen: Introducción: Las malformaciones cavernosas cerebrales (CCM; OMIM 116860) son engrosamientos cavernosos vasculares sin intervención del parénquima cerebral con una prevalencia estimada en la población general del 0,1-0,5%.
R. Mondejar, M. Lucas
doaj +1 more source
Angiomas cavernosos cerebrales múltiples tipo IV en paciente de 7 años [PDF]
, 2014 This is a presentation of a clinical case of an unusual pathology due to multiple manifestation of benign cerebral vascular angiocavernomas. Generally described in the literature for the presence of unique masses at a supratentorial level.
Cevallos Castañeda, Edison Ramiro
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Frontiers in Neurology, 2018 Familial cerebral cavernous malformations (CCMs) are autosomal dominant disorders characterized by hemorrhagic strokes, recurrent headache, epilepsy, and focal neurological deficits.
Kang Wang +4 more
doaj +1 more source