Results 161 to 170 of about 24,558 (240)

The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing. [PDF]

Front Neurol
Du Y, Bai T, Song J, Zhang L, Huang H, Han P, Gai F, Guo J, Li J, Lv C, Shao J, Zhang G, Tao H, Xi Y.   +13 more
europepmc   +1 more source

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth [PDF]

, 2017
Anastasaki, Corina, Dahiya, Sonika, Gutmann, David H   +2 more
core   +3 more sources

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  

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal. [PDF]

Clinics (Sao Paulo)
de Francisco DD, Silva IMW, Saraiva JM, Steiner CE, Gil-da-Silva-Lopes VL.   +4 more
europepmc   +1 more source

Hybrid neurofibroma/schwannoma in schwannomatosis-a diagnostically challenging benign peripheral nerve sheath tumour. [PDF]

Fam Cancer
Tippner D, Anokhin M, Scheffler J, Hellmann F, Plontke SK, Leisz S, Harder A.   +6 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

Neurofibromatosis 2 : Genetic Analysis of Mild Disease, and Biology of the Gene Product, Merlin [PDF]

, 2000
Sainio, Markku
core  

Encephalocraniocutaneous lipomatosis: a rare and sporadic phakomatosis. [PDF]

An Bras Dermatol
Palhano ACM, Neumayer JMO, Ferradoza MTN, Samorano LP, Rivitti-Machado MC, de Oliveira ZNP.   +5 more
europepmc   +1 more source

IFN signaling is associated with radiotherapy response in malignant peripheral nerve sheath tumors. [PDF]

J Clin Invest
Zhu I, Chien J, Rech GE, Mirchia K, Pan S, Miller K, Pak J, Wustrack R, Monga V, Braunstein SE, Adams MD, Jacques L, Pekmezci M, Liu SJ, Vasudevan HN.   +14 more
europepmc   +1 more source