Results 191 to 200 of about 108,120,995 (240)

Colon cancer in a patient with a mosaic monoallelic germline pathogenic <i>NF1</i> gene variant. [PDF]

Explor Neurosci
Alsabagh F, Chaaban KM, Girardo M, Harahsheh E, Asif MB, Babovic-Vuksanovic D, Sonbol MB, Osundiji MA.   +7 more
europepmc   +1 more source

Schwannoma Arising from the Deep Peroneal Nerve: A Case Report. [PDF]

J Orthop Case Rep
Jalan D, Jha AK, Singh DK, Khanna G, Gupta V.   +4 more
europepmc   +1 more source

An Overview of Genetics of Moyamoya: Beyond <i>RNF213</i> Gene. [PDF]

Int J Mol Sci
Sorte G, Cantone M, Bella R, Salemi M, Zedde M, Zappia M.   +5 more
europepmc   +1 more source

Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline <i>NF1</i> Pathogenic Variants. [PDF]

Ann Intern Med Clin Cases
Harahsheh EY, Merritt E, Tejon JB, Olarewaju BA, Asif MB, Babovic-Vuksanovic D, Osundiji MA.   +6 more
europepmc   +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

Exome-based cancer driver gene comprehensive testing can provide a genetic diagnosis for individuals with triple-negative breast cancer. [PDF]

PLoS One
Alzate D, Sánchez AY, Pacheco Y, Isaza Ruget M, Sánchez R, Castillo C, Parra-López CA.   +6 more
europepmc   +1 more source

Induced pluripotent stem cell-derived models of malignant nerve sheath tumor progression mimic glial to neuro-mesenchymal transition and uncover therapeutic opportunities. [PDF]

Nat Commun
Uriarte-Arrazola I, Magallón-Lorenz M, Fernández-Rodríguez J, Zhang J, Lee E, Ortega-Bertran S, Creus-Bachiller E, Farrés-Casas J, Wilson KM, McKnight C, Recabo K, Blanco I, Salvador H, Romagosa C, Lázaro C, Mazuelas H, Gel B, Ferrer M, Carrió M, Serra E.   +19 more
europepmc   +1 more source

<i>NF2</i> lacking exon 11 induced by antisense gene therapy is able to partially recover merlin deficiency in <i>NF2</i>-SWN iPSC-derived spheroid model. [PDF]

Mol Ther Nucleic Acids
Casals-Sendra G, Jarne-Sanz I, Catasús N, Boluda-Luis I, Quer A, Amilibia E, Plotkin SR, Lázaro C, Serra E, Blanco I, Castellanos E, NF-SWN Spanish Reference Center (CSUR on Phakomatosis).   +11 more
europepmc   +1 more source