Results 41 to 50 of about 743 (164)

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

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, Volume 99, Issue 1, Page 73-83, January 2026.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Síndrome de microdeleción en la neurofibromatosis tipo- 1: presentación de un caso Microdeletion syndrome in neurofibromatosis type-1: a case report

Revista de Ciencias Médicas de Pinar del Río, 2011
La neurofibromatosis tipo 1 es una enfermedad genética neuroectodérmica, en la que han sido descritas diferentes tipos de mutaciones en el gen NF1, cuyo locus está en el cromosoma 17 y en este mapean miles de genes; algunos de ellos se encuentran en ...
Miladys Orraca Castillo, Deysi Licourt Otero, Ana Isabel Sánchez Álvarez de La Campa   +2 more
doaj  

Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal

Acta Médica Portuguesa, 2023
Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity.
Mafalda Rebelo, Telma Francisco, Rosário Perry da Câmara, Andreia Pereira, Amets Iraneta, Marta Amorim, Maria João Paiva Lopes, Rita Lopes da Silva, Ana Isabel Cordeiro   +8 more
doaj   +1 more source

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

Evaluation of QoL in neurofibromatosis patients: a systematic review and meta-analysis study

BMC Neurology, 2019
Background The neurofibromatoses (NF) are a group of genetic disorders that interfere negatively with the quality of life (QoL) and influence physical, emotional and social statuses.
Akram Sanagoo, Leila Jouybari, Fatemeh Koohi, Fatemeh Sayehmiri   +3 more
doaj   +1 more source

Nanodroplet‐Array‐Plattform zur integrierten Synthese und Screening von MEK Inhibitoren: Ein miniaturisierter Ansatz für die frühe Pharmaforschung

Angewandte Chemie, Volume 137, Issue 48, November 24, 2025.
Wir präsentieren eine Nanodroplet‐Array‐Plattform, die die Integration von Festphasensynthese, MALDI‐MS‐Analyse und zellbasiertem Screening von 325 potenziellen MEK‐Inhibitoren (Mitogen‐aktivierte‐Proteinkinase‐Kinase) in Nanoliter‐Volumina ermöglicht.
Maximilian Seifermann, Julius Höpfner, Liana Bauer, Divya Varadharajan, Stefan Schmidt, Björn Fröhlich, Benjamin Wellenhofer, Charlotte Luchena, Carsten Hopf, Anna A. Popova, Pavel A. Levkin   +10 more
wiley   +1 more source

Maternal smoking during pregnancy and risk of phacomatoses: results from a Swedish register-based study

Clinical Epidemiology, 2019
Giorgio Tettamanti,1 Hanna Mogensen,1 Ann Nordgren,2,3 Maria Feychting11Institute of Environmental Medicine, Unit of Epidemiology, Karolinska Institutet, Stockholm, Sweden; 2Department of Molecular Medicine and Surgery, Center for Molecular Medicine ...
Tettamanti G, Mogensen H, Nordgren A, Feychting M   +3 more
doaj  

Challenges in staging and surveillance of patients with neurofibromatosis and cutaneous malignant melanoma

JPRAS Open, 2019
Summary: Malignant melanoma is a skin neoplasm with a rising trend of incidence. Positron Emission Tomography in combination with Computed Tomography (PET-CT) imaging is an essential diagnostic tool for both staging and surveillance of melanoma patients;
P.R. Chew, V.V. Toh, A. Kotwal
doaj   +1 more source