Results 41 to 50 of about 922 (157)

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

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

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  

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

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

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

Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists

Orphanet Journal of Rare Diseases, 2022
Introduction The neurofibromatoses (NF) are a group of rare, genetic diseases sharing a predisposition to develop multiple benign nervous system tumors.
Vanessa L. Merker, Pamela Knight, Heather B. Radtke, Kaleb Yohay, Nicole J. Ullrich, Scott R. Plotkin, Justin T. Jordan   +6 more
doaj   +1 more source

Epidemiological, clinical and genetic aspects of neurofibromatoses in Northern Finland [PDF]

, 1999
A population-based study to investigate the epidemiological, genetic and clinical features of neurofibromatoses (NF) in Northern Finland was carried out between 1989–1996.
Pöyhönen, M. (Minna)
core   +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

Mariage consanguin et morbi-mortalité, courte revue de la littérature à partir d'une association exceptionnelle: syndrome de Usher et Neurofibromatose de Von Recklinghausen

The Pan African Medical Journal, 2016
Le syndrome de Usher est défini par l'association d''une surdité de perception congénitale de sévérité variable évolutive ou non et d'une rétinopathie pigmentaire progressivement cécitante. La Neurofibromatose de Von Recklinghausen ou Neurofibromatose de
Pépin-Williams Atipo-Tsiba
doaj   +1 more source