Results 141 to 150 of about 30,899,307 (191)

Diagnosing metastatic angiosarcoma arising from MPNST using H3K27me3 staining in NF1: illustrative case. [PDF]

J Neurosurg Case Lessons
Hagan MKA, Spinner RJ, Torres-Mora J.
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  

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System. [PDF]

Mol Genet Genomic Med
Carstens N, Mudau M, Essop F, Krause A.
europepmc   +1 more source

pathophysiology of neurofibromatosis type 1

Neurofibromatoses are inherited disorders, designated as neurofibromatosis type 1 (NF1), neurofibromatosis type 2, and schwannomatosis, that tend to result in benign tumors of the nerve sheath.
Theos , A.
core  

Case Report: Schwann cell reprogramming and PDGF-driven nerve hypertrophy in an NF1 patient with CIDP-like autoimmunity. [PDF]

Front Immunol
Wang F, Cao W, Lu J, Huang R, Bai Y, Zhang Y, Wang Z, Chen Z, Wang Z.   +8 more
europepmc   +1 more source

Diagnoses of double heterozygous NF1 variants and dual RASopathy. [PDF]

Mol Cell Pediatr
Angelova-Toshkina D, Schanze D, Vaassen P, Frühwald MC, Rosenbaum T, Zenker M, Kuhlen M.   +6 more
europepmc   +1 more source

Multifocal Small Bowel Gastrointestinal Stromal Tumors and Concurrent Neuroendocrine Tumor in Neurofibromatosis Type 1. [PDF]

ACG Case Rep J
Thakkar B, Da Cunha T, Zanchelli P, Dharan M.   +3 more
europepmc   +1 more source

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
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

DNA Hypomethylation Is Not Cell Intrinsically Toxic to Polycomb Repressive Complex 2 Deficient Malignant Peripheral Nerve Sheath Tumors. [PDF]

Genes Chromosomes Cancer
Stahl MR, Stehn CM, Seeman ZJ, Faulk C, Largaespada DA.   +4 more
europepmc   +1 more source