neurofibromatosis type 1
Concurrent Ulcerative Colitis and Neurofibromatosis Type 1: The Question of a Common Pathway
... with neurofibromatosis type 1 (NF1) are prone to the development of gastrointestinal stromal tumors, which may present clinically with hematochezia, obstruction, or abdominal ...
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Breast cancer associated with neurofibromatosis type 1 : About a case
... The neurofibromatosis type 1 (NF1) or von Recklinghausen's disease is an autosomal dominant ...with neurofibromatosis type1 seems justified to detect Early a possible association to breast ...
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MIA is a potential biomarker for tumour load in neurofibromatosis type 1
... Background: Neurofibromatosis type 1 (NF1) is a frequent genetic disease characterized by multiple benign tumours with increased risk for malignancy. There is currently no biomarker for tumour load ...
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Reassessment of Sphenoid Dysplasia Associated with Neurofibromatosis Type 1
... Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations of the neuro- fibromin gene located on the long arm of chromo- some ...
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Robust surgical approach for cutaneous neurofibroma in neurofibromatosis type 1
... Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders, affect- ing 1 in 3000 live births, and is found worldwide independent of sex, race, or geographic ...
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Neurofibromatosis Type 1 in Four Children Cases
... Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an auto- somal dominant genetic disease, characterized by an extreme variability of its clinical expression which is also found ...
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Moyamoya syndrome and neurofibromatosis type 1
... Neurofibromatosis type 1 (NF1) or von Recklinghausen is the most common neurocutaneous contidion with an autosomal dominant pattern of ...inheritance. 1/3 of cases are new mutations ...
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Endocrinologic Disorders and Optic Pathway Gliomas in Children With Neurofibromatosis Type 1
... Conclusions. It has been suggested that CPP in chil- dren with NF1 is found exclusively in the presence of a chiasma glioma. We conclude that chiasma glioma may not be obligatory in children with NF1 and CPP or GHD. ...
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Giant malignant peripheral nerve sheath tumor of thigh in an adolescent with neurofibromatosis type 1: a case report
... Abstract: Malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas of children and adolescents, and they are aggressive tumors with a high rate of local recurrence. We present a 15-year-old boy with ...
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Medullary unidentified bright objects in Neurofibromatosis type 1: a case series
... Neurofibromatosis type 1 (NF1) is a rare (prevalence of 1 in 2700 newborns) autosomal dominant genetic dis- order [1]. It is diagnosed on the basis of clinical criteria such as the ...
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Oral Manifestations of Neurofibromatosis Type 1
... Neurofibromatosis type 1 is diagnosed based on clinical criteria established by the National Institute of Health (NIH) Consensus Development Conference in 1987 (Table 1) [17] and updated in ...
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Early development of infants with neurofibromatosis type 1: a case series
... The unclear aetiology of ASD in infants at polygenic familial risk makes it difficult to translate such insights to animal models, which are mainly based on single gene knock-out approaches. This in turn limits our ...
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A Giant Lumbar Pseudomeningocele in a Patient with Neurofibromatosis Type 1: A Case Report
... Copyright © 2017 Mauro Dobran et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
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Pulmonary hypertension associated with neurofibromatosis type 1
... ABSTRACT Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in ...
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Neurofibromatosis Type 1 Revisited
... Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of ⬃ 1 per 2500 to 3000 ...of neurofibromatosis type ...the neurofibromatosis ...
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Early development of infants with neurofibromatosis type 1: a case series
... The unclear aetiology of ASD in infants at polygenic familial risk makes it difficult to translate such insights to animal models, which are mainly based on single gene knock-out approaches. This in turn limits our ...
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Constipation in adults with neurofibromatosis type 1
... Background: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and ...
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A porcine model of neurofibromatosis type 1 that mimics the human disease
... Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the neuro- fibromin 1 (NF1) gene that affect approximately 1 in 3,500 individuals ...
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Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis
... level. Neurofibromatosis type-1 (NF1) affects 1/3,000 – 4,000 individuals worldwide and is caused by the inactivation of the NF1 tumour suppres- sor gene, which encodes the protein ...
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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
... both type 1 and type 3 microdeletions, does not include any genes that are known to be associated with epilepsy or ...both type 1 and type 3 microdeletions ...
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