Results 31 to 40 of about 61,555 (249)

Learning Disabilities in Neurofibromatosis Type 1

Pediatric Neurology Briefs, 2006
The frequency of specific leaning disabilities (SLD) in neurofibromatosis type 1 (NF1) was determined in a cohort of 81 patients (43 males, 38 females; mean age 11 years 6 months; age range 8-16) followed at Children's Hospital, Westmead, NSW, Australia.
J Gordon Millichap
doaj   +1 more source

Multiple non-ossifying fibromas as a cause of pathological femoral fracture in Jaffe-Campanacci syndrome. [PDF]

, 2014
BACKGROUND: Jaffe-Campanacci is a rare syndrome characterised by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, as well as some features of type 1 neurofibromatosis.
Becce, F., Bildé, Y., Cherix, S., Letovanec, I., Rüdiger, H.A.   +4 more
core   +3 more sources

Actin dynamics controlled by IqgC, a RasGAP at the crossroads between the IQGAP and fungal GAP1 families

FEBS Open Bio, EarlyView.
IqgC is a RasGAP from Dictyostelium discoideum. IqgC binds RasG via its RasGAP domain and deactivates it on macroendocytic cups, thereby suppressing the uptake of fluid and particles. IqgC has a positive effect on cell‐substratum adhesion, and its RGCt domain is required for recruitment to ventral foci.
Vedrana Filić, Darija Putar, Lucija Mijanović, Igor Weber   +3 more
wiley   +1 more source

A multicenter study of neurofibromatosis type 1 utilizing deep learning for whole body tumor identification

npj Digital Medicine
Deep-learning models have shown promise in differentiating between benign and malignant lesions. Previous studies have primarily focused on specific anatomical regions, overlooking tumors occurring throughout the body with highly heterogeneous whole-body
Cheng-Jiang Wei, Yan Tang, Yang-Bai Sun, Tie-Long Yang, Cheng Yan, Hui Liu, Jun Liu, Jing-Ning Huang, Ming-Han Wang, Zhen-Wei Yao, Ji-Long Yang, Zhi-Chao Wang, Qing-Feng Li   +12 more
doaj   +1 more source

Neuronavigational approach for orbital neurofibroma excision: a case report [PDF]

, 2015
Orbital neurofibromas are uncommon in adults, accounting for approximately 1%-3% of all space occupying lesions of the orbit. The complex anatomy of the orbital region, with the pronounced vulnerability of its neurovascular structures, requires ...
CASCONE, PIERO, LAMBIASE, ALESSANDRO, MARENCO, MARCO, MORAMARCO, Antonietta, SCUDERI, LUCA, VELLONE, VALENTINO   +5 more
core   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Type 1 neurofibromatosis with periodontal manifestations

Indian Journal of Dental Sciences, 2016
Neurofibromatosis type 1 (NF1) also known as von Recklinghausen's disease is an autosomal dominant disease transmitted with a high degree of penetrance. The disease is expressed in different forms.
Pramod Kumar, Akshay Dhobley, Harshal Kumar, Sandeep Jain   +3 more
doaj   +1 more source

High axial myopia in neurofibromatosis type 1

Indian Pediatrics Case Reports, 2021
Background: Clinicians must be aware of phenotypic variability in neurofibromatosis type 1 (NF 1) presentations. There is perhaps a limited understanding on progression of NF 1 in prepubertal years and the subsequent threat to vision.
Rajiv Garg, Siddharth Madan, Nisha Yadav, Rekha Yadav   +3 more
doaj   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source