Last Posted: May 20, 2018
- FDA grants orphan drug status to selumetinib for neurofibromatosis type 1 (NF1) treatment
NCI Cancer Research, May 2018 - Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India.
Khadilkar Kranti et al. Journal of pediatric endocrinology & metabolism : JPEM 2017 May 30(5) 575-581 - Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Gruber Aurélia et al. Clinical chemistry and laboratory medicine 2018 Apr 56(5) 728-738 - Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
Wang Xia et al. Genes, chromosomes & cancer 2018 Jan 57(1) 19-27 - First report of the efficacy of vestibular rehabilitation in improving function in patients with Neurofibromatosis type 2: an observational cohort study in a clinical setting.
Emmanouil Beatrice et al. Disability and rehabilitation 2018 Mar 1-7 - Families dealing with the uncertainty of genetic disorders: the case of Neurofibromatosis Type 1.
Carrieri Daniele et al. Sociology of health & illness 2016 Jun 38(5) 753-67 - Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.
Bruwer Zandrè et al. Journal of genetic counseling 2014 Apr 23(2) 147-55 - Genetic Severity Score predicts clinical phenotype in NF2.
Halliday Dorothy et al. Journal of medical genetics 2017 Aug - Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.
Pathmanaban Omar N et al. JAMA neurology 2017 Jul - Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis.
Ko Younhee et al. Journal of dermatological science 2017 Jul
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