Neurofibromatosis (von Recklinghausen's disease) - An unusual cause of parenchymal lung disease : a case report [PDF]
, 1984 CITATION: Hardcastle, S. W. & Hendricks, M. L. 1984. Neurofibromatosis (von Recklinghausen's disease) - An unusual cause of parenchymal lung disease : a case report. South African Medical Journal, 66:959-960.The original publication is available at http:/
Hardcastle, S. W., Hendricks, M. L.
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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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Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]
, 2018 Purpose: Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Diepold, Miriam +6 more
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A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism [PDF]
, 2014 Here we analyze the genetic and molecular basis responsible for a very benign phenotype observed in an NF1 patient. Quantification of cells carrying the NF1 mutation in different samples derived from the three embryonic layers revealed mosaicism ...
Benavente, Yolanda +7 more
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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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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
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Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]
, 2016 This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
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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
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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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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
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