Results 111 to 120 of about 16,386 (154)

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

Glial-to-mesenchymal transition of tumor Schwann cells drives the genetic burden in MPNSTs from neurofibromatosis type 1 mouse model. [PDF]

Sci Adv
Radomska KJ, Onfroy A, Lecerf L, Job B, Beaude A, Sanz LS, El Jalkh T, Thieffry D, Charnay P, Wolkenstein P, Ortonne N, Coulpier F, Topilko P.   +12 more
europepmc   +1 more source

Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol. [PDF]

Saudi Med J
Alfahaad HA.
europepmc   +1 more source

Mapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing. [PDF]

Int J Med Sci
Luo F, Jiang L, Pan Y, Li H, Tan J, Wu C, Liu Q.   +6 more
europepmc   +1 more source

NF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction. [PDF]

Diagnostics (Basel)
Ye J, Jiang Y, Wang H, Wang D.
europepmc   +1 more source

Congenital neurodevelopmental anomalies in pediatric and young adult cancer [PDF]

, 2017
Agha, Altmann, Bailey, Baptiste, Birch, Birch, Bjorge, Bjorge, Botto, Bueno, Bursen, Carozza, Chmielecki, Ciofi, Dawson, DeBaun, Durmaz, Fisher, Gold, Good, Greenough, Hall, Harris, Hoyert, Janitz, Johnson, Johnson, Jones, Knapke, Korf, Mallol-Mesnard, Mathews, Matsumoto, McCarthy, Mili, Mili, Miller, Montes, Moore, Narod, Nishi, Partap, Rankin, Riccardi, Rice, Rios, Rosano, Samuelsen, Schmidt, Shu, Steliarova-Foucher, Sun, Sun, Sun, Vogelstein, Wilson, Windham, Witelson, Yoon, Zhang   +59 more
core   +2 more sources

HMGB1 affects the progression of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors through E2F2. [PDF]

Cancer Cell Int
Sun S, Hu C, Yu L, Li D, Guo C, Liu S.
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  

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants. [PDF]

Mol Syndromol
Ates K, Ozturk M, Esener Z, Dogan M, Gezdirici A, Sarac H, Yeninarcilar B, Fettahlioglu A, Camtosun E, Dundar I, Güngör S, Ozgor B, Tekedereli I.   +12 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