Results 81 to 90 of about 1,775 (150)

Cutaneous Neufibroma in the Absence of Classical NF1 Features: A Case Report and Literature Review. [PDF]

Dermatopathology (Basel)
Sutrisno CSN, Pramita DH, Dewi IP.
europepmc   +1 more source

Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia. [PDF]

Diagnostics (Basel), 2023
de Rivas MO, Gabás JM, Cabeza MÁT, Floría OE, Latorre RH, Moscarda EN, Clavería JA, Rivasés GP, Puyuelo JA.   +8 more
europepmc   +1 more source

Oncogenetic testing, diagnosis and follow-up in Birt-Hogg-Dubé syndrome, familial atypical multiple mole melanoma syndrome and neurofibromatosis 1 and 2 [PDF]

, 2015
't Kint de Roodenbeke, Daphné, Baurain, Jean-François, Brochez, Lieve, Caplanusi, Teofila, Claes, Kathleen, Hulstaert, Frank, Legius, Eric, Poppe, Bruce, Robays, Jo, Rottey, Sylvie, Schrijvers, Dirk, Stordeur, Sabine, Ullman, Urielle, Van Maerken, Tom   +13 more
core  

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants. [PDF]

J Med Genet
Pacot L, Blok M, Vidaud D, Fertitta L, Laurendeau I, Coustier A, Maillard T, Barbance C, Hadjadj D, Ye M, Lallemand D, Ferkal S, Funalot B, Lunati-Rozie A, Hebrard B, Bhouri R, Spruijt L, Bessis D, Geneviève D, Vernimmen V, Broen MPG, Sigaudy S, Odent S, Damaj L, Quélin C, Pasquier L, Layet V, Gilbert-Dussardier B, Nicolas G, Guerrot AM, Leheup B, Bursztejn AC, Petit F, Boute-Bénéjean O, Capri Y, Guimier A, Lyonnet S, Baujat G, Bourrat E, Isidor B, Nizon M, Barbarot S, Toutain A, Blesson S, Van-Gils J, Morice-Picard F, Audebert-Bellanger S, Mazereeuw-Hautier J, Ziegler A, Alembik Y, Piard J, Brischoux-Boucher E, Guerrini-Rousseau L, Morera J, Paquis-Flucklinger V, Delobel B, Alessandri JL, Parfait B, NF-France network, Wolkenstein P, Pasmant E.   +60 more
europepmc   +1 more source

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional study. [PDF]

JAAD Int
Wang Z, Hu X, Mo H, Shen M, Romo CG, Vera K, Liu Z, Li Q, Li C, Sarin KY.   +9 more
europepmc   +1 more source

Pulmonary emphysema associated with skin nodules. [PDF]

J Bras Pneumol, 2023
Souza LVS, Souza AS, Marchiori E.
europepmc   +1 more source

Unilateral Yasunari Nodule-Like Appearance in a Patient Without Neurofibromatosis Type 1. [PDF]

Eur J Case Rep Intern Med
Ali H, Ahmadova N, Fatihoglu OU, Kocabey M, Caglayan AO, Saatci AO.   +5 more
europepmc   +1 more source

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb [PDF]

, 2015

core   +1 more source

Recurrent metastatic malignant peripheral nerve sheath tumor associated with neurofibromatosis I: a rare case with atypical immunohistochemistry. [PDF]

An Bras Dermatol
Dias LR, Coimbra BZ, Tiezzi M, Landgraf MM, Abreu MAMM.   +4 more
europepmc   +1 more source

Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1. [PDF]

Int J Mol Sci, 2023
Mallone F, Alisi L, Lucchino L, Di Martino V, Nebbioso M, Armentano M, Lambiase A, Moramarco A.   +7 more
europepmc   +1 more source