NF1 microdeletion syndrome: case report of two new patients
Italian Journal of Pediatrics, 2019 Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients.
Gregorio Serra +5 more
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Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]
, 2018 Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F +21 more
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The emerging roles of ribosome biogenesis in craniofacial development. [PDF]
, 2014 Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
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Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]
, 2013 Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO +6 more
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Different de novo mutations in the
Pediatric DermatologyAbstractThe criteria for clinical diagnosis of neurofibromatosis type 1 (NF1) are not sensitive in young children. Recognition is easier when one of their parents has been diagnosed with this condition, and the causal mutation is known. We present a case of a girl with isolated café‐au‐lait spots, whose father was diagnosed with NF1. However, both were
Juan de Dios García‐Díaz +3 more
openaire +2 more sources
A conserved circadian function for the Neurofibromatosis 1 gene [PDF]
, 2018 Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Bai, Lei +10 more
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Manejo quirúrgico de malformaciones del pie por neurofibromatosis tipo 1. Reporte de caso
Revista Colombiana de Ortopedia y TraumatologíaIntroducción. La neurofibromatosis (NF) es un síndrome neurocutáneo que puede afectar diferentes órganos y sistemas. Esta es una enfermedad huérfana-rara y su manejo representa un desafío clínico. Presentación del caso. Mujer de 33 años con malformación
Nathaly Patiño-Vargas +5 more
doaj +1 more source
Emerging genotype-phenotype relationships in patients with large NF1 deletions. [PDF]
, 2017 The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions).
Cooper, David N +2 more
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Telomere erosion in NF1 tumorigenesis [PDF]
, 2017 Neurofibromatosis type 1 (NF1; MIM# 162200) is a familial cancer syndrome that affects 1 in 3,500 individuals worldwide and is inherited in an autosomal dominant fashion.
Baird, Duncan +4 more
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The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis [PDF]
, 2016 Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations ...
Cooper, David Neil +3 more
core +1 more source