Results 201 to 210 of about 61,555 (249)

Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1 [PDF]

Anna G. W. Rosenberg, Ké Mochèl, Lorena M. Hähner, Lara Ruules, Kirsten Davidse, Anja G. Bos‐Roubos, Sarah A. van Dijk, M. Carola Zillikens, Walter Taal, A. J. van der Lely, Laura C. G. de Graaff   +10 more
openalex   +1 more source

Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations. [PDF]

MedComm (2020)
Kim S, Do H, Heo SH, Kang M, Hwang S, Kim D, Chang MH, Kim K, Lee BH.   +8 more
europepmc   +1 more source

Dermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1. [PDF]

J Clin Med
Kerekes K, Boostani M, Metyovinyi Z, Kiss N, Medvecz M.   +4 more
europepmc   +1 more source

Surgical treatment of bilateral pheochromocytoma unresponsive to doxazosin in a patient with type 1 neurofibromatosis – a case report [PDF]

Martyna Łukasiewicz, Monika Berendt-Obołończyk, Irmina Anna Śmietańska, Paweł Topolewski, Maciej Śledziński, Renata Świątkowska−Stodulska, Andrzej Hellmann   +6 more
openalex   +1 more source

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

Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1. [PDF]

Bone Res
Kovaci F, Goachet C, Perrin S, Slimani L, Coulpier F, Tilotta F, Topilko P, Colnot C.   +7 more
europepmc   +1 more source

A Systematic Review on Visual-Processing Deficits in Neurofibromatosis Type 1: What Possible Impact on Learning to Read? [PDF]

Marie Vernet, Stéphanie Ducrot, Yves Chaix   +2 more
openalex   +1 more source

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study. [PDF]

Genes (Basel)
Idrissova Z, Rakhimbekova F, Orazgaliyeva M, Zhaksybek M, Kovaleva K, Abdikerim S, Ormankyzy A, Vasiluev P.   +7 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  

Penile squamous cell carcinoma in neurofibromatosis type 1 (NF1): RAS-pathway mechanisms and management - A case report. [PDF]

Urol Case Rep
Javanmard B, Samenezhad S, Rafighi D, Yaghoubpour L, Dehghan N.   +4 more
europepmc   +1 more source