Results 11 to 20 of about 124,379,666 (230)
MEK inhibitors : novel targeted therapies of neurofibromatosis associated benign and malignant lesions [PDF]
Biomarker Research, 2021 MAP/ERK kinase 1 and 2 (MEK 1/2) inhibitors (MEKi) are investigated in several trials to treat lesions that arise from pathogenic variants of the Neurofibromatosis type 1 and type 2 genes (NF1, NF2).
Harder, Anja
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Clinical Masks of Neurofibromatosis Type 1
Архивъ внутренней медицины, 2022 Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
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Journal of Medical Case ReportsBackground Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung +3 more
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Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1 [PDF]
The Turkish Journal of Pediatrics, 2011 Neurofibromatosis type 1 (NF1) is an autosomal dominant disease where phenotypic heterogeneity is explained by the effect of modifier genes. Thirty to 65% of patients have learning disability.
Emel Erdoğan-Bakar +4 more
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Mouse Models of Neurofibromatosis 1 and 2
Neoplasia: An International Journal for Oncology Research, 2002 The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
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Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report
European Journal of Breast Health, 2017 Neurofibromatosis type 1 (NF1) is autosomal dominant and it is the most common hereditary disease. This case report is about a woman and her daughter. Both of them are NF1 and mother also has metachronous bilateral breast carcinoma.
Duygu Dursun +7 more
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A case report of non-syndromic colonic ganglioneuroma in a patient with juvenile polyposis. [PDF]
JPGN RepAbstract Colonic ganglioneuromas in children are rare, particularly without associated hereditary syndromes like multiple endocrine neoplasia (MEN2B), neurofibromatosis type 1(NF1), or Phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We report a 12‐year‐old male with a history of juvenile polyposis syndrome (JPS) and segmental colonic ...
Coffey H, Arora K, Giefer MJ.
europepmc +2 more sources
Loss of EPB41L3: a common molecular link in the tumorigenesis of neurofibromatosis types 1 and 2. [PDF]
Front OncolBackgroundNeurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are autosomal dominant disorders that originate from Schwann cells and are characterized by the development of benign and malignant tumors, respectively.
Tao E +12 more
europepmc +2 more sources
NF1 Gene and Neurofibromatosis 1 [PDF]
American Journal of Epidemiology, 2000 Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria.
S A, Rasmussen, J M, Friedman
openaire +2 more sources
Neurofibromatosis type 1: a single center's experience in Korea [PDF]
Korean Journal of Pediatrics, 2014 PurposeNeurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system.
Min Jeong Kim, Chong Kun Cheon
doaj +1 more source