Results 101 to 110 of about 81,955,644 (156)

Genetic insights into autism spectrum disorder with intellectual disability: a regional population-based study from Northwest China. [PDF]

Front Pediatr
Dai Y, Yao R, Du T, Wang X, Dou N, Zhang F, Liu L.   +6 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

NF1 and SPRED1/2 cooperate through RAS-MAPK-independent functions. [PDF]

Proc Natl Acad Sci U S A
Silva JM, Canche L, Cheng A, Young LC, McCormick F.   +4 more
europepmc   +1 more source

Immune landscape characterization of neurofibromas with atypical features in Neurofibromatosis1 reveals PD-1 and the Tim-3/Galectin-9 pathway as potential therapeutic targets. [PDF]

Acta Neuropathol Commun
Brunet A, Coulpier F, Onfroy A, Sako N, Radomska KJ, Aftimos V, Lacroix L, Briand-Suleau A, Maille P, Hermeziu O, Laurendeau I, Pasmant E, Wolkenstein P, Topilko P, Ortonne N.   +14 more
europepmc   +1 more source

Embarazada con neurofibromatosis tipo 1

Revista de Ciencias Médicas de Pinar del Río
Amado García Odio, Yanisel Rives González, Ana Ivis Reina Arroyo, Daymeris Álvarez Bolivar   +3 more
doaj  

Clinical and Imaging Phenotype of Schwannomatosis in Children, Adolescents and Young Adults. [PDF]

Cancers (Basel)
Ahlawat S, Blakeley JO, Fayad LM, Schatz KS, Morris SM, Belzberg AJ, Slobogean B, Romo CG.   +7 more
europepmc   +1 more source

Precocious puberty in boys: current insights into etiology, genetic advances, and environmental factors. [PDF]

Front Endocrinol (Lausanne)
Amodeo ME, Mirra G, Deodati A, Cianfarani S.   +3 more
europepmc   +1 more source

Prevalence and characterization of germline RAS pathway variants in children with chronic myeloid leukemia. [PDF]

Leukemia
Ghete T, Gaschler L, Krumbholz M, Sembill S, Behrens YL, Karow A, Wölfl M, Auer F, Hauer J, Carta MG, Ferrazzi F, Hutter S, Horn AHC, Sticht H, Schlegel PG, Metzler M.   +15 more
europepmc   +1 more source