Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]
, 2013 Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M +3 more
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Understanding intellectual disability through RASopathies [PDF]
, 2014 Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael +1 more
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Nf1 haploinsufficiency augments angiogenesis [PDF]
Oncogene, 2005 Mutations in the NF1 tumor-suppressor gene underlie neurofibromatosis type 1 (NF1), in which patients are predisposed to certain tumors such as neurofibromas and may associate with vascular disorder. Plexiform neurofibromas are slow growing benign tumors that are highly vascular and can progress to malignancy.
M, Wu, M R, Wallace, D, Muir
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Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation. [PDF]
Clin Case RepABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Raza MH +8 more
europepmc +2 more sources
The cell of origin dictates the temporal course of neurofibromatosis-1 (Nf1) low-grade glioma formation. [PDF]
, 2017 Low-grade gliomas are one of the most common brain tumors in children, where they frequently form within the optic pathway (optic pathway gliomas; OPGs).
Castillon, Guillaume A +9 more
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Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs
Cancer Management and Research, 2021 Jinchun Wu,1 Haiyan Zhou,2 Xiaoping Yi,3 Qiongzhi He,4 Tianxiang Lei,5 Fengbo Tan,5 Heli Liu,5 Bin Li1 1Department of Oncology, Xiangya Hospital, Central South University, Changsha 410008, People’s Republic of China; 2Department of Pathology ...
Wu J +7 more
doaj
Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma. [PDF]
Clin Case RepAxial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Pluim Z +6 more
europepmc +2 more sources
Dualities in 4D Theories with Product Gauge Groups from Brane Configurations [PDF]
, 1997 We study brane configurations which correspond to N=1 field theories in four dimensions. By inverting the order of the NS 5-branes and D6-branes, a check on dualities in four dimensional theories can be made.
Tatar, Radu
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Branes, Geometry and N=1 Duality with Product Gauge Groups of SO and Sp [PDF]
, 1997 We study N=1 dualities in four dimensional supersymmetric gauge theories as the worldvolume theory of D4 branes with one compact direction in type IIA string theory. We generalize the previous work for SO(N_{c1}) x Sp(N_{c2}) with the superpotential W=Tr
Ahn, Changhyun, Oh, Kyungho, Tatar, Radu
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Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas [PDF]
European Journal of Human Genetics, 2011 Neurofibromatosis type-1 (NF1), caused by heterozygous inactivation of the NF1 tumour suppressor gene, is associated with the development of benign and malignant peripheral nerve sheath tumours (MPNSTs). Although numerous germline NF1 mutations have been identified, relatively few somatic NF1 mutations have been described in neurofibromas. Here we have
Laura, Thomas +10 more
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