Results 41 to 50 of about 2,439 (246)

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, Frayling, Ian Martin, Philpott, Charlotte, Tovell, Hannah, Upadhyaya, Meena   +4 more
core   +2 more sources

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 [PDF]

, 2018
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation.
Balasubramanian, M. (Meena), Barnett, C.P. (Christopher P.), Becker, T.A. (Troy A.), Ben-Shachar, S. (Shay), Bertola, D.R. (Débora Romeo), Blakeley, J.O. (Jaishri O.), Burkitt-Wright, E.M.M. (Emma M.M.), Callaway, A. (Alison), Callens, T. (Tom), Chen, Y. (Yunjia), Chen, Z. (Zhenbin), Claes, K. (Kathleen), Crenshaw, M. (Melissa), Cunha, K.S. (Karin S.), Cunningham, M. (Mitch), D'Agostino, M.D. (Maria Daniela), Dahan, K. (Karin), De Luca, A. (Alessandro), Destrée, A. (Anne), Dhamija, R. (Radhika), Eoli, M. (Marica), Evans, D.G.R. (D. Gareth R.), Galvin-Parton, P. (Patricia), George-Abraham, J.K. (Jaya K.), Gomes, A. (Alicia), Gripp, K.W. (Karen), Guevara-Campos, J. (Jose), Hanchard, N.A. (Neil A.), Hernández-Chico, C. (Concepcion), Hsiao, M.-C. (Meng-Chang), Immken, L. (LaDonna), Janssens, S. (Sandra), Johnson, S. (Sherrell), Jones, K.J. (Kristi), Keena, B.A. (Beth A.), Kochhar, A. (Aaina), Koczkowska, M. (Magdalena), Korf, B. (Bruce), Legius, E. (Eric), Liebelt, J. (Jan), Mahoney, M.J. (Maurice J.), Martin, Y. (Yolanda), Martir-Negron, A. (Arelis), Maystadt, I. (Isabelle), McDougall, C. (Carey), McEntagart, M. (Meriel), Mendelsohn, N.J., Messiaen, L.M. (Ludwine), Miller, D.T. (David T.), Mortier, G. (Geert), Morton, J. (Jenny), Pappas, J. (John), Plotkin, S.R. (Scott R.), Pond, D. (Dinel), Rosenbaum, K. (Kenneth), Rubin, K. (Karol), Russell, L. (Laura), Rutledge, L.S. (Lane S.), Saletti, V. (Veronica), Schonberg, R. (Rhonda), Schreiber, A. (Allison), Seidel, M. (Meredith), Sharp, A. (Angela), Siqveland, E. (Elizabeth), Stockton, D.W. (David), Thornton, A.S. (Andrew), Trevisson, E. (Eva), Ullrich, N.J. (Nicole J.), Upadhyaya, M. (Meena), Verhelst, H. (H.), Wallace, M.R. (Margaret), Yap, Y.-S. (Yoon-Sim), Zackai, E. (Elaine), Zonana, J. (Jonathan), Zurcher, V. (Vickie)   +74 more
core   +1 more source

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich, Darren R. Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne   +6 more
wiley   +1 more source

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis [PDF]

, 2011
Background Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic NF2 mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients.
C Bacci, C Boyd, C Lu-Emerson, Guillaume Rousseau, Hagay Sobol, I Christiaans, KD Hadfield, KD Hadfield, M MacCollin, MJ Smith, R Sestini, Sylviane Olschwang, Tetsuro Noguchi, TJ Hulsebos, TJ Hulsebos, Violaine Bourdon   +15 more
core   +6 more sources

Une tumeur maligne des gaines des nerfs périphériques compliquant la maladie de Von Recklinghausen

The Pan African Medical Journal, 2015
Les tumeurs malignes des gaines des nerfs périphériques ou MPNST (Malign Peripheral Nerve Sheath Tumors selon les anglo-saxons) sont des tumeurs rares qui constituent la principale complication des neurofibromatoses de type 1 (NF1) à l'âge adulte.
Tilila Hajjad, Samir El Mazouz, Noureddine Gharib, Abdellah El Abbassi   +3 more
doaj   +1 more source

Assessing Executive Functions in Children With Developmental Dyslexia: A Comprehensive Approach

Dyslexia, Volume 32, Issue 1, February 2026.
ABSTRACT Developmental dyslexia (DD) is frequently associated with executive function (EF) deficits, particularly in inhibition, working memory and cognitive flexibility. This study assessed EF in 40 children with DD, aged 7–16, using both performance‐based tests and rating measures, and examined the role of co‐occurring attention deficit hyperactivity
Amanda Guerra, Julie Remaud, Olivier Cadeau, Valérie Charbonnier, Marie‐Charlotte Dubrey, Julie Proteau, Morgane Daheron, Martine Le Roch, Jean‐Luc Roulin, Nathalie Fournet, Didier Le Gall, Arnaud Roy   +11 more
wiley   +1 more source

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
core   +1 more source

Neurofibromatose Segmentar

Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa), 2016
Portuguese Journal of Pediatrics, Vol. 47 No. 4 (2016)
Rebelo, Alícia, Costeira, Mónica, Dias, Ângela   +2 more
openaire   +2 more sources

Prevalence of Oral Alterations and Correlation Between Oral and Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Retrospective Case–Control Study

Journal of Oral Pathology &Medicine, Volume 55, Issue 1, Page 155-160, January 2026.
ABSTRACT Objective The aim of this study was to determine the prevalence of oral alterations detectable through physical examination in NF1 individuals. Additionally, we assessed the correlation between the number of oral and cutaneous neurofibromas. Design This retrospective study evaluated oral alterations in individuals with and without NF1.
Pâmella de Pinho Montovani, Gabriela Pizão Werneck Moreira da Costa, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +3 more
wiley   +1 more source