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Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies
(WILEY-BLACKWELLMALDEN, 2012)
The association of RASopathies [Noonan syndrome (NS) and Noonan-related syndromes] and autoimmune disorders has been reported sporadically. However, a concomitant evaluation of autoimmune diseases and an assessment of ...
Study of Ras/MAPK pathway gene variants in Chilean patients with Cryptorchidism
(Blackwell Publishing Ltd, 2018)
© 2018 American Society of Andrology and European Academy of AndrologyCryptorchidism is one of the most common congenital disorders in boys, and several genetic, hormonal, and environmental factors have been proposed as ...
Understanding intellectual disability through RASopathies
(Elsevier, 2014-05)
Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that ...
Repeating or spacing learning sessions are strategies for memory improvement with shared molecular and neuronal components
(Academic Press Inc Elsevier Science, 2020-07)
Intellectual disability is a common feature in genetic disorders with enhanced RAS-ERK1/2 signaling, including neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Additional training trials and additional spacing ...
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
(Amer Acad Pediatrics, 2014-10-01)
Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically ...
Immune markers in the RASopathy neurofibromatosis type 1
(Elsevier/North-Holland, 2017)