Bullous lung disease and neurofibromatosis type-1. [PDF]
, 2012 Lung interstitial diseases and bullae are described as possible complications of neurofibromatosis type-1 (NF-1), a genetic disorder inherited as a autosomal-dominant trait.
Castiglioni M +5 more
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Solitary Neurofibroma Of The Spermatic Cord: A Case Report. [PDF]
, 2015 We report the ultrasound, computerized tomography, positron emission tomography and magnetic resonance imaging findings of a 38-year-old man with a biopsy proven solitary neurofibroma of the spermatic cord.
Boto, J. +4 more
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Grande tache pigmentée pileuse révélant une forme familiale de la maladie de Von Recklinghausen [PDF]
, 2016 La neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen appartient au groupe de maladies appelées phacomatoses. C'est une affection autosomique dominante relativement rare.
Amrani, R +4 more
core +2 more sources
Autochthonous European dirofilariasis of the lung [PDF]
, 1993 Two intrapulmonary round nodules were identified by x-ray examination in a 45-year old German woman during an examination conducted before her employment who had been complaining of pain in the right side of the thorax and of mild coughing irritation and
Eckert, J. +4 more
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Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer [PDF]
, 2016 Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour predisposition syndrome that is caused through loss of function mutations of a tumour suppressor gene called Neurofibromin 1.
Rad, Ellie, Tee, Andrew
core +2 more sources
Embolization of a ruptured intercostal artery aneurysm in type I neurofibromatosis [PDF]
, 2017 We present the case of a female with history of a ruptured lumbar aneurysm years ago. She was known to have neurofibromatosis type I with the typical clinical signs. The patient was transferred to us with a hematothorax and an aortic lesion was suspected
Carrel, Thierry +3 more
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CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]
, 2018 Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core +1 more source
Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]
, 2019 We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C +6 more
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Molecular and phylogenetic characterization of the sieve element occlusion gene family in Fabaceae and non-Fabaceae plants [PDF]
, 2010 Background The phloem of dicotyledonous plants contains specialized P-proteins (phloem proteins) that accumulate during sieve element differentiation and remain parietally associated with the cisternae of the endoplasmic reticulum in mature sieve ...
Boris Rüping +8 more
core +2 more sources
The NF1 somatic mutational landscape in sporadic human cancers [PDF]
, 2017 Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Cooper, David Neil +4 more
core +2 more sources