Results 121 to 130 of about 38,036,070 (284)
Neurofibromatosis type 1 association with moyamoya disease
, 2008 PubMedID: 18576213The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues.
Koc Z., Yerdelen D., Koç F.
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Targeting KRAS for cancer therapy
British Journal of Pharmacology, EarlyView.In recent years, therapeutics targeted against KRAS proto‐oncogene GTPase (KRAS)‐mutant cancers have seen significant progress. Herein we outline the biology and epidemiology of KRAS alterations at the lineage and allele levels, reviewing the clinical evidence for KRASG12C inhibition from the discovery of the recessive switch pocket to sotorasib ...
Jianlong Jia +4 more
wiley +1 more source
Lisch spots in neurofibromatosis type 1
Indian Journal of Ophthalmology, 1991 The eyes of 28 patients of Neurofibromatosis type 1 were examined. Lisch spots were present in all the patients above 20 years. Their clinical appearance is being presented as seen in Indian subjects.
Saxena Rajesh, Saxena Sandeep
doaj
Painful tumors in a patient with neurofibromatosis type 1: a case report
Journal of Medical Case Reports, 2018 Background Herein, we report an unusual case of multifocal glomus tumors in the same hand in a patient suffering from neurofibromatosis type 1. Case presentation The patient was a 37-year-old Moroccan woman, suffering from neurofibromatosis type 1, with ...
Niema Aqil +3 more
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Pediatric malignancies in neurofibromatosis type 1: A population‐based cohort study
International Journal of Cancer, 2019 Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of 1:2,000. Patients with NF1 have an increased cancer risk and mortality, but there are no population‐based cohort studies specifically investigating the risk of ...
S. Peltonen +7 more
semanticscholar +1 more source
Horner syndrome in neurofibromatosis type 1
, 2015 The authors report a rare case of Horner syndrome in a patient with neurofibromatosis type 1 (NF-1). A 31-year-old man visited the clinic with drooping left eyelid.
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Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
Developmental Medicine &Child Neurology, EarlyView.In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source
A case of familial neurofibromatosis in pediatric practice
Alʹmanah Kliničeskoj Mediciny, 2018 The article describes a clinical case of familial neurofibromatosis. Neurofibromatosis type 1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or
N. I. Zryachkin +3 more
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Breast cancer risk (un)awareness among women suffering from neurofibromatosis type 1 in Poland
, 2020 The main goal of this study was to draw the attention of physicians to commonly undisclosed risk of breast cancer (BrCa) in women suffering from neurofibromatosis type 1 (NF-1), which is 5-fold higher than in the general population.
Marek W. Karwacki
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Accelerated long‐term forgetting in children with neurofibromatosis type 1
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To investigate the presence of accelerated long‐term forgetting after a 7‐day delay in children with neurofibromatosis type 1 (NF1), using an adapted verbal memory recall task, Experimental Word Recall Task (EWRT), and to examine its relationship with other cognitive abilities.
Jessica Habib +8 more
wiley +1 more source