Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …

The complications of neurofibromatosis type 1 (NF1) are widespread, unpredictable and
variable and each person's experience of this disorder is unique. However, few studies have …

The goal of this practice resource is to provide genetic counselors and other healthcare
professionals with a resource to reference when providing genetic counseling services to …

Neurofibromatosis (NF) and tuberous sclerosis complex (TSC) are the two most common
neurocutaneous disorders, both transmitted as autosomal dominant or, in the case of NF …

Context: Maternally inherited 3-kb STX16 deletions cause autosomal dominant
pseudohypoparathyroidism type Ib (PHP-Ib) characterized by PTH resistance with loss of …

Neurofibromatosis type 1 (NF1) is one of the most common inherited genetic disorders with
an incidence of 1/2,500 to 1/3,300 live births. The disease is caused by a mutation in NF1, a …

Materials and methods Patients. Genetic screening results for the NF1 gene of 24 patients
including 14 males (mean age 9.64±10.24) and 10 females (mean age 16.30±15.61) living …

8 Li F, Downing BD, Smiley LC, et al. Neurofibromin-deficient myeloid cells are critical
mediators of aneurysm formation in vivo. Circulation 2014; 129: 1213–24. 9 Gitler AD, Zhu Y …

Background The probability of a pregnancy, live birth, stillbirth and abortion has never been
assessed in women with neurofibromatosis 1 (NF1) in a large population-based study …

The neurofibromatoses are autosomal-dominant neurogenetic disorders including
neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis …