A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17. Am. J. Med. Genet. A. 2007 Jan 1; 143A(1):76-81. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17163520N.D. Havlovicova M, Kocarek E, Novotna K, Bendova S, Petrak B, Hrdlicka M, ...
Neurofibromatosis type I (NF1, OMIM #162200) is one of the most common genetic disorders, occurring in approximately 1:2,000–3,000 births.1,2 It is caused by pathogenic variants in the NF1 gene (NCBI: NG_009018.1), which is located on chromosome 17q11.2. With a length of about 300...
Neurofibromatosis type 1. American Journal of Medical Genetics, 97(2), 119–127 http://www.ncbi.nlm.nih.gov/pubmed/11180219 Article Google Scholar O’Keefe, J., & Dostrovsky, J. (1971). The hippocampus as a spatial map. Preliminary evidence from unit activity in the freely-moving rat...
Coexistence of Wilson's disease and neurofibromatosis type 1 in a 14-year-old boy. A letter to the editor is presented about the presence of Wilson's disease and neurofibromatosis type 1 disease in a 14-year-old boy. Sahraian,M Ali,Motamedi,... - 《Neurology India》 被引量: 3发表: ...
Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder that has three major features: multiple neural tumors, cafe-au-lait spots, and pigmented iris hamartomas (Lisch nodules). The purpose of this case report is to advise physicians of the danger associated with the progression of ...
Optic pathway gliomas (OPG) are found in about 15% of patients with neurofibromatosis Type 1 (NF1). The natural history of OPG is not yet well documented. Treatment in cases with growing tumors is still controversial. Twenty-one patients with NF-1 and OPG, diagnosed over a 20-year period...
Evans DG: Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 2009, 4: 16-10.1186/1750-1172-4-16. http://www.ncbi.nlm.nih.gov/pubmed/?term=Evans+DG%3A+Neurofibromatosis+type+2+(NF2)%3A+a+clinical+and+molecular+review.+Orphanet+J+Rare+Dis+2009%2C...
Objective: To discuss the case of a 45-year-old woman, with a prior diagnosis of neurofibromatosis type 1 (NF-1), complaining of low back and cervical spine pain with bilateral upper extremity paresthesias. Clinical Features: The patient had a dull, achy, constant low-back pain of 4 ...
Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders in humans and is caused by mutations in the NF1 gene. To date, the majority of... Ars,E. - 《Human Molecular Genetics》 被引量: 697发表: 2000年 Erratum: A novel moesin-, ezrin-, and radixin-like gene is...
Rosette-forming glio颅 neuronal tumor: report of a chiasmal-optic nerve example in neurofibromatosis type 1: special pathology report. Neurosurgery. 2009; 64: E771- 772; discussion E772.http://www.ncbi.nlm.nih. gov/pubmed/19349806Scheithauer BW, Silva AI, Ketterling RP, Pula JH, Lininger...