Results 161 to 170 of about 25,034,870 (238)

Optic Nerve Glioma, Plexiform Neurofibroma, and Secondary Glaucoma in a Child With a Rare NF1 Variant (p.Gln83Ter): A Case Report. [PDF]

Cureus
Chaudhary K, Dubey S.
europepmc   +1 more source

Peer Review Report For: Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype [version 1; peer review: 2 approved]

, 2021
openaire   +2 more sources

<i>MAP3K7CL</i> Inhibits the Inflammatory Responses in Goose Fatty Liver. [PDF]

J Poult Sci
Zhao M, Lv M, Li J, Fan X, Liu L, Gong D, Zhang Y.   +6 more
europepmc   +1 more source

A haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/- mice. [PDF]

J Clin Invest
Park SJ, Lukkes JL, Chan KK, Drozd HP, Burgin CB, Qian S, Sullivan MM, Guevara CG, Cunningham N, Arenas S, Collins MA, Zucker J, Won J, Smith A, Jiang L, Mitchell DK, Rhodes SD, Angus SP, Clapp DW.   +18 more
europepmc   +1 more source

Neurofibromin 1 (<i>NF1</i>) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico. [PDF]

Int J Mol Sci
Blazyte A, Lee H, Yoon C, Jeon S, Lee J, Bayarsaikhan D, Kim J, Park S, Cho J, Baek SA, Byun G, Lee B, Bhak J.   +12 more
europepmc   +1 more source

Alternative Splicing of Exon 23a in Neurofibromatosis Type 1 Pre-mRNA: Its Contribution to the Protein Structure and Function of Neurofibromin. [PDF]

Wiley Interdiscip Rev RNA
Elsner Pacheco AG, Lou H.
europepmc   +1 more source

The Genetic Landscape of Malignant Pleural Mesothelioma: Results from Massively Parallel Sequencing

Journal of Thoracic Oncology, 2016
Marieke Hylebos, G. Van Camp, J. V. van Meerbeeck, K. Op de Beeck   +3 more
semanticscholar   +1 more source

Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1). [PDF]

Acta Neuropathol Commun
Aghoghovwia BE, Shen CE, Bano S, Shyamala N, Echeandia Marrero A, Irshad K, Sharafaldin S, Brossier NM, Pan Y.   +8 more
europepmc   +1 more source

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications. [PDF]

Eur J Pediatr
Yahia S, Abdelmoneim Z, Ghozzy D, Wahba Y, Abo-Haded HM.   +4 more
europepmc   +1 more source

The benefits of exploiting rare genetic disorders to better understand human health and disease [PDF]

, 2016
Tee, Andrew
core   +2 more sources