Results 11 to 20 of about 61,198,315 (136)

Multiple Oral and Eyelid Nodules in a Pediatric Patient. [PDF]

Oral Dis
Oral Diseases, Volume 32, Issue 7, Page 1739-1741, July 2026.
Pedroso CM, Penafort PVM, de Souza PV, Pascon FM, Punppin-Rontani RM, Cherve BFP, Robim RM, de Mendonça RMH, Lopes MA, Vargas PA, Santos-Silva AR.   +10 more
europepmc   +2 more sources

Neurofibromatosis Type 1 Tumor Involving the Anterosuperior Mediastinum With a Rare c.147C>G Germline Mutation: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects multiple organ systems, most commonly the skin, peripheral nerves, and skeletal system. However, involvement of the anterior mediastinum is rare and has been sporadically reported in the literature.
Qi Y, Wang S, Sun Z, Du J, Li J.
europepmc   +2 more sources

Lisch nodules. Markers of neurofibromatosis 1 and immunohistochemical references for neuroectodermal differentiation

, 1997
Iris nodules in neurofibromatosis I have become an important tool in the differential diagnosis of phakomatoses. The clinical appearance and importance of these nodules first recognized by Karl Lisch in Munich in 1937.
Stefani, Fritz H, Schirren, C G, Plewig, G, Junk, Anna, Lukacs, A, Kampik, A   +5 more
core   +4 more sources

Grande tache pigmentée pileuse révélant une forme familiale de la maladie de Von Recklinghausen

The Pan African Medical Journal, 2015
La neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen appartient au groupe de maladies appelé phacomatose. C'est une affection autosomique dominante relativement rare.
Anass Es seddiki, Sahar Messaoudi, Dounia Jaafar, Anass Ayyad, Rim Amrani   +4 more
doaj   +1 more source

La neurofibromatose de type I

The Pan African Medical Journal, 2014
La neurofibromatose de type 1 (NF1) ou maladie de Recklinghausen est une génodermatose autosomique dominante, elle touche de 1/3000 à 1/4000 personnes. La NF1 est caractérisée par une variabilité de son expression clinique qu'on peut retrouver au sein de
Kbira El Morabite, Baderddine Hassam
doaj   +1 more source

Neurofibromatose 1: à propos d'un cas historique

The Pan African Medical Journal, 2014
La neurofibromatose 1 (NF1) ou maladie de Von Recklinghausen est une maladie génétique fréquente. C'est une affection autosomique dominante qui se caractérise par une expression clinique variable au sein d'une même famille.
Nada El Moussaoui, Nadia Ismaili
doaj   +1 more source

Multimodal Imaging Characteristics and Diagnostic Value of Choroidal Nodules in Patients with Neurofibromatosis Type 1. [PDF]

Turk J Ophthalmol
Objectives: Yasunari nodules are choroidal lesions observed in patients diagnosed with neurofibromatosis type 1 (NF-1) and characterized by relatively irregular dome-shaped, plaque-like, or patchy boundaries.
Ahmadova N, Kayabaşı M, Köksaldı S, Hümaz E, Saatci AO.   +4 more
europepmc   +2 more sources

Acoustic radiation force impulse imaging for differentiation of thyroid nodules [PDF]

, 2012
Background: Acoustic Radiation Force Impulse (ARFI)-imaging is an ultrasound-based elastography method enabling quantitative measurement of tissue stiffness.
Stefan Zeuzem, Lisa Voelkl (139194), Holzer, Katharina, Katharina Holzer (139190), Schroeter, Hartmut, Friedrich-Rust, Mireen, Dauth, Nina, Christian Berner, Katharina Holzer, Joerg Bojunga, Gesine Meyer (139188), Hartmut Schroeter (139199), Joerg Bojunga (139182), Berner, Christian, Meyer, Gesine, Lisa Voelkl, Herrmann, Eva, Nina Dauth (139184), Hartmut Schroeter, Voelkl, Lisa, Nina Dauth, Mireen Friedrich-Rust, Bojunga, Jörg, Eva Herrmann (139197), Gesine Meyer, Christian Berner (139186), Eva Herrmann, Mireen Friedrich-Rust (139200), Zeuzem, Stefan, Stefan Zeuzem (22856)   +29 more
core   +2 more sources

Neurofibromatose tipo 1 em idade pediátrica: o que vigiar?

Acta Médica Portuguesa, 2008
Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. It is an autosomal dominant hereditary condition, although an half of all cases are related with spontaneous mutations. Mutations within NF1 gene (c17q11.2) result in loss
Cristina L Martins, J Paulo Monteiro, Anabela Farias, Rita Fernandes, Maria José Fonseca   +4 more
doaj   +1 more source

Nódulos de Lisch y ultrabiomicroscopia [PDF]

, 2014
ResumenIntroducciónLa neurofibromatosis tipo 1 es un desorden genético autosómico dominante cuya manifestación oftalmológica más común son los nódulos de Lisch, los cuales son hamartomas benignos, elevaciones bien definidas, en forma de domo de la ...
Carlos Eduardo Estrada Reyes, Koga Nakamura, Wilson, Moreno Londoño, María Victoria, Estrada Reyes, Carlos Eduardo, Islas de la Vega, Gilberto, María Victoria Moreno Londoño, González González, María Cristina, Mariana Takane Imay, María Cristina González González, Gilberto Islas de la Vega, Wilson Koga Nakamura, Takane Imay, Mariana   +11 more
core   +1 more source