Results 31 to 40 of about 7,783 (160)
Case Reports in Pediatrics, 2015 We report the case of 17-year-old female diagnosed with Costello syndrome. Genetic testing provided a proof with G12S mutation in the HRAS gene since 3 years of age with a presentation of severe nodulocystic acne on her face.
Leelawadee Sriboonnark +4 more
doaj +1 more source
A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy
Case Reports in Neurology, 2021 We report a 45-year-old female with clinical features resembling Noonan syndrome (NS) who presented with significant nerve root hypertrophy. She was initially diagnosed with Charcot-Marie-Tooth disease because her gait disturbance gradually deteriorated ...
Yoshihito Ando +4 more
doaj +1 more source
Noonan syndrome – a new survey
Archives of Medical Science, 2016 Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart ...
Alireza Tafazoli +3 more
doaj +1 more source
Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes
Cardiogenetics, 2014 RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation.
Rita Gravino, Giuseppe Pacileo
doaj +1 more source
Forearm Rhabdomyosarcoma in Neurofibromatosis Type 1 A Unique Case
Journal of Orthopedics, Traumatology and Rehabilitation, 2022 Rhabdomyosarcoma (RMS) is the most common soft sarcoma in kids, with alveolar and embryonal variants distinguishable by histopathology and, more significantly, molecular biology.
Vikas Kakkar, Dheeraj Makkar
doaj +1 more source
Heart India, 2014 Rasopathy syndromes are a class of phenotypically similar, but genetically distinct multiple anomaly syndromes caused by germ line mutations in genes that encode protein components of the Ras/mitogen activated protein kinase (MAPK) pathway.
Meenakshi Kadiyala +2 more
doaj +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Arthritis &Rheumatology, Accepted Article.Objective To assess the pharmacokinetics, effectiveness, safety, and immunogenicity of certolizumab pegol (CZP) in polyarticular‐course juvenile idiopathic arthritis (pcJIA). Methods Pediatric Arthritis Study of Certolizumab Pegol (NCT01550003), a multicenter, open‐label study, enrolled patients 2–17 years with active pcJIA and inadequate response ...
Hermine I Brunner +28 more
wiley +1 more source
International Journal of Eating Disorders, EarlyView.ABSTRACT Objective To update the evidence regarding the diagnostic accuracy of eating disorder (ED) questionnaires in adolescents and adults with higher weight. Method Five databases were systematically searched from 2020 to November 2025 (CRD420251186115).
Eve T. House +6 more
wiley +1 more source
British Journal of Learning Disabilities, EarlyView.ABSTRACT Background Challenging behaviours (CBs) are known to adversely affect life satisfaction among individuals with intellectual disabilities. Little is known about the impact of different profiles of CBs amongst individuals with intellectual disabilities in South Korea.
Yesang Cho
wiley +1 more source