Results 91 to 100 of about 1,775 (150)

Diagnosis, treatment management, and challenges in neurofibromatosis type 1: a case report with mixed features. [PDF]

Ann Med Surg (Lond)
Liu Y, Zhang X, Jiang C, Yang X, Luo W, Ai Y, Zhang L.   +6 more
europepmc   +1 more source

Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene [PDF]

, 2017
Delozier-Blanchet, Célla D., E.Antonarakis, Stylianos, Hutter, Pierre, Morris, Michael A.   +3 more
core  

Confounding Association of Lower Limb Hypertrophy With Retarded Long Bone Growth in Mosaic Somatic Neurofibromatosis 1-A Genetic Review and Femoral Lengthening Treatment. [PDF]

J Am Acad Orthop Surg Glob Res Rev
Abraham E, Mungalpara NK, Choubey A, Alvarez J.   +3 more
europepmc   +1 more source

Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series. [PDF]

Neurol Genet
Schatz KS, Applegate CD, Belzberg AJ, Chen Y, Romo CG, Slobogean B, Blakeley J, Dimachkie MM.   +7 more
europepmc   +1 more source

Cobb syndrome: an interdisciplinary approach between neurosurgery and dermatology - case report and review of the literature. [PDF]

J Surg Case Rep
Riveros-Ruiz J, Huancahuari N, Taipe-Huamani LM, Cairapoma M.   +3 more
europepmc   +1 more source

DRI Triton SS-OCT applied to detect choroidal nodules in paediatric patients affected by NF1. [PDF]

Heliyon
Fresno Cañada C, Gispets Parcerisas J, Del Prado Sánchez C, Puigventós Rosanas E, Perez-Jaume S, Salvador H, Llorca Cardeñosa A, Prat Bartomeu J.   +7 more
europepmc   +1 more source

A diagnostic approach to neurocutaneous syndromes. [PDF]

Arq Neuropsiquiatr
Gama SM, Tamanini JVG, Moraes MPM, Silva TYT, Lima FT, Pedroso JL, Barsottini OGP.   +6 more
europepmc   +1 more source

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

Turk J Ophthalmol
Ahmadova N, Kayabaşı M, Köksaldı S, Hümaz E, Saatci AO.   +4 more
europepmc   +1 more source

Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study. [PDF]

Biomedicines
Veres K, Nagy B, Ember Z, Bene J, Hadzsiev K, Medvecz M, Szabó L, Szalai ZZ.   +7 more
europepmc   +1 more source

An Atypical Finding of Peripheral Retinal Ischemia and Neovascularization in Neurofibromatosis Type 1: A Case Report. [PDF]

Cureus
Alsakran WA, Alyousef N, Alhawsawi AA, Aljahdali AA, Elkhamary SM.   +4 more
europepmc   +1 more source