Results 1-10 of about 156|
  1. ... diagnostic factors common VIEW ALL   family history of NF1 Parent and/or offspring affected. All first-degree ... com Risk factors strong VIEW ALL   parent with NF1 NF1 is an autosomal-dominant genetic disorder with ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  2. ... pubmed/11323050?tool=bestpractice.com weak VIEW ALL   neurofibromatosis type 1 (NF1) Patients with neurofibromatosis have a 1% chance of developing a phaeochromocytoma. [24] Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med. 1981 Dec 31; ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  3. ... pubmed/11323050?tool=bestpractice.com weak VIEW ALL   neurofibromatosis type 1 (NF1) Patients with neurofibromatosis have a 1% chance of developing a pheochromocytoma. [24] Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med. 1981 Dec 31; ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  4. ... a neurofibroma or MPNST genetic testing to confirm NF1 mutation Test Result Test The American Association of Cancer Research recommend RNA-based NF1 mutation testing to confirm the diagnosis and, in ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  5. ... bestpractice.com INVESTIGATIONS Absence of an NF1 mutation. NF1-like syndrome (Legius syndrome) SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / ... or optic pathway glioma or other features of NF1 except for the presence of café au lait ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  6. ... of the hypothalamo-pituitary-gonadal axis and GDPP. neurofibromatosis type 1 Recognised risk factor for GDPP. [16] Habiby R, ... R, et al. Precocious puberty in children with neurofibromatosis type 1. J Pediatr. 1995 Mar;126(3):364-7. ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  7. ... nlm.nih.gov/pubmed/11554386?tool=bestpractice.com neurofibromatosis type 1 It has been reported that between 5% and ... of patients with optic nerve pilocytic astrocytomas have neurofibromatosis type 1. [24] Blatt J, Jaffe R, Deutsch M, et ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  8. ... nlm.nih.gov/pubmed/16329078?tool=bestpractice.com Neurofibromatosis type 1 SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Familial cancer syndrome; ... genetic testing will identify mutations in neurofibromin 1 (NF1), another gene in the Ras/MAPK pathway. Neurofibromatosis ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
  9. ... Lisch nodules. Diagnosis is made clinically; RNA-based NF1 mutation molecular testing to confirm the diagnosis is ... lesions, especially malignant peripheral nerve sheath tumours. Definition Neurofibromatosis, type 1 (NF1) is an autosomal-dominant genetic disorder with ...
    Source: BMJ Best Practice, BMJ Best Practice
    Information Type: Oppslagsverk, Oppslagsverk
  10. ... neoplasia type 2, Von Hippel-Lindau syndrome, and neurofibromatosis type 1. ◊ Diagnosed by increased levels of urine and serum ... such as multiple endocrine neoplasia 2A and 2B, neurofibromatosis type 1, and Von Hippel-Lindau syndrome. [ 2] [ 3] [ 4] [ ...
    Source: BMJ Best Practice
    Information Type: Oppslagsverk
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