Neuropathological evaluation of CNS tumors is increasingly dependent on molecular genetic tests for proper classification, prediction of biological behavior and patient management. The neurofibromatoses (NFs) consist of at least three autosomal dominant inherited disorders: neurofibromatosis type 1 (NF1), type 2 (NF2), and schwannomatosis (NF3). The molecular diagnosis is still difficult due to: 1) absence of hotspots in NF1/NF2 genes, 2) ≥50% of sporadic cases for NF1/NF2, 3) NF1 gene large size and the existence of several pseudogenes. NF3 the newly recognized form is poorly understood: 1) only 15% of cases are inherited, 2) is caused by concomitant loss of several tumor suppressor genes by a single mutational event, 3) the 2 predispositi...
Neurofibromatosis type I (NF1) is an auto-somal dominant disorder aVecting 1 in 3000 people. The NF1...
Neurofibromatosis type 1 (NF1) is mainly characterized by the occurrence of benign peripheral nerve ...
BACKGROUND: Neurofibroma occurs as isolated or multiple lesions frequently associated with neurofibr...
<p><b>Objectives</b>: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor pred...
Purpose To determine the impact of additional genetic screening techniques on the rate of detection ...
Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilat...
Neurofibromatosis type 1 (NF1; OMIM 162200) is one of the most common autosomal dominant genetic dis...
Neurofibromatosis type 1 patients present a high variability in their clinical expressivity. The mos...
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predis...
Abstract Background Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor predisposition sy...
Az 1-es típusú neurofibromatosis autoszomális dominánsan öröklődő hamartosis, hátterében a neurofibr...
NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro-cardio-facio-cutan...
AIM: To detect the pathogenic gene variant in a family with neurofibromatosis type 1 (NF1). METHODS:...
Neurofibromatosis type 1 (NF1), a neuroectodermal disorder, is caused by germline mutations in the N...
Neurofibromatosis type 2 (NF2) is an autosomal domi-nant disorder that predisposes to nervous system...
Neurofibromatosis type I (NF1) is an auto-somal dominant disorder aVecting 1 in 3000 people. The NF1...
Neurofibromatosis type 1 (NF1) is mainly characterized by the occurrence of benign peripheral nerve ...
BACKGROUND: Neurofibroma occurs as isolated or multiple lesions frequently associated with neurofibr...
<p><b>Objectives</b>: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor pred...
Purpose To determine the impact of additional genetic screening techniques on the rate of detection ...
Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilat...
Neurofibromatosis type 1 (NF1; OMIM 162200) is one of the most common autosomal dominant genetic dis...
Neurofibromatosis type 1 patients present a high variability in their clinical expressivity. The mos...
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predis...
Abstract Background Neurofibromatosis type 1 (NF1) is a dominantly inherited tumor predisposition sy...
Az 1-es típusú neurofibromatosis autoszomális dominánsan öröklődő hamartosis, hátterében a neurofibr...
NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro-cardio-facio-cutan...
AIM: To detect the pathogenic gene variant in a family with neurofibromatosis type 1 (NF1). METHODS:...
Neurofibromatosis type 1 (NF1), a neuroectodermal disorder, is caused by germline mutations in the N...
Neurofibromatosis type 2 (NF2) is an autosomal domi-nant disorder that predisposes to nervous system...
Neurofibromatosis type I (NF1) is an auto-somal dominant disorder aVecting 1 in 3000 people. The NF1...
Neurofibromatosis type 1 (NF1) is mainly characterized by the occurrence of benign peripheral nerve ...
BACKGROUND: Neurofibroma occurs as isolated or multiple lesions frequently associated with neurofibr...