Neurofibromatosis type 1: a multidisciplinary approach to care
AC Hirbe, DH Gutmann - The Lancet Neurology, 2014 - thelancet.com
Neurofibromatosis type 1 is a relatively common inherited disorder. Patients have a high
predisposition to develop both benign and malignant tumours. Although many …
predisposition to develop both benign and malignant tumours. Although many …
Neurofibromatosis type 1 revisited
VC Williams, J Lucas, MA Babcock, DH Gutmann… - …, 2009 - publications.aap.org
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide
incidence of∼ 1 per 2500 to 3000 individuals. Caused by a germ-line–inactivating mutation …
incidence of∼ 1 per 2500 to 3000 individuals. Caused by a germ-line–inactivating mutation …
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options
F Elefteriou, M Kolanczyk, A Schindeler… - American journal of …, 2009 - Wiley Online Library
The skeleton is frequently affected in individuals with neurofibromatosis type 1, and some of
these bone manifestations can result in significant morbidity. The natural history and …
these bone manifestations can result in significant morbidity. The natural history and …
Oral manifestations in patients with neurofibromatosis type-1: a comprehensive literature review
F Javed, S Ramalingam, HB Ahmed, B Gupta… - Critical reviews in …, 2014 - Elsevier
Oral health status is jeopardized in patients with neurofibromatosis (NF) type-1 (NF-1). The
aim of the present study was to comprehensively review the oral manifestations in NF-1 …
aim of the present study was to comprehensively review the oral manifestations in NF-1 …
Calvarial defects and skeletal dysplasia in patients with neurofibromatosis type 1
DK Arrington, AR Danehy, A Peleggi… - Journal of …, 2013 - thejns.org
Object Skull defects, including sphenoid dysplasia and calvarial defects, are rare but distinct
findings in patients with neurofibromatosis Type 1 (NF1). The underlying pathophysiology is …
findings in patients with neurofibromatosis Type 1 (NF1). The underlying pathophysiology is …
RASopathies: the musculoskeletal consequences and their etiology and pathogenesis
JL Fowlkes, KM Thrailkill, RC Bunn - Bone, 2021 - Elsevier
The RASopathies comprise an ever-growing number of clinical syndromes resulting from
germline mutations in components of the RAS/MAPK signaling pathway. While multiple …
germline mutations in components of the RAS/MAPK signaling pathway. While multiple …
Understanding the biological activities of vitamin D in type 1 neurofibromatosis: new insights into disease pathogenesis and therapeutic design
C Riccardi, L Perrone, F Napolitano, S Sampaolo… - Cancers, 2020 - mdpi.com
Simple Summary We herein describe the relevance of Vitamin D for human health, with a
special focus on its role in Neurofibromatosis type 1 (NF1) disease. Indeed, epidemiological …
special focus on its role in Neurofibromatosis type 1 (NF1) disease. Indeed, epidemiological …
Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”
W Cung, LA Friedman, NE Khan, E Romberg… - European journal of …, 2015 - Elsevier
Abstract Background Neurofibromatosis type 1 (NF1) is a common, autosomal dominant
tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor …
tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor …
Local low‐dose lovastatin delivery improves the bone‐healing defect caused by Nf1 loss of function in osteoblasts
W Wang, JS Nyman, HE Moss… - Journal of Bone and …, 2010 - academic.oup.com
Postfracture tibial nonunion (pseudoarthrosis) leads to lifelong disability in patients with
neurofibromatosis type I (NF1), a disorder caused by mutations in the NF1 gene. To …
neurofibromatosis type I (NF1), a disorder caused by mutations in the NF1 gene. To …
[HTML][HTML] Peripheral nerve sheath tumors of the upper extremity and hand in patients with neurofibromatosis type 1: topography of tumors and evaluation of surgical …
RE Friedrich, C Diekmeier - GMS Interdisciplinary Plastic and …, 2017 - ncbi.nlm.nih.gov
Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition
syndrome with a tendency to develop peripheral nerve sheath tumors (PNST). Plexiform …
syndrome with a tendency to develop peripheral nerve sheath tumors (PNST). Plexiform …