Now showing items 1-4 of 4
Clinical findings and mutation analysis of NF1 patients in Turkey
(Elsevier B.V., 2018-02)
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that is caused by mutations of the NF1 gene. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant ...
Automated washing of long-term cryopreserved peripheral blood stem cells promotes cell viability and preserves CD34+ cell numbers
(Nature Publishing Group, 2018-09-01)
Peripheral blood stem cell (PBSC) transplantation has become an established treatment option for a range of malignant and inherited diseases. PBSCs are usually cryopreserved in the presence of dimethyl sulfoxide (DMSO) and ...
The effect of parental age on NF1 patients in Turkey
(Springer Verlag, 2018-07-01)
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which ...
Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes
(Taylor and Francis Ltd, 2018-04-03)
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression ...