Publications:

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.

Molecular Therapy. Nucleic Acids

Leier, André A; Moore, Marc M; Liu, Hui H; Daniel, Michael M; Hyde, Alexis M AM; Messiaen, Ludwine L; Korf, Bruce R BR; Selvakumaran, Jamuna J; Ciszewski, Lukasz L; Lambert, Laura L; Foote, Jeremy J; Wallace, Margaret R MR; Kesterson, Robert A RA; Dickson, George G; Popplewell, Linda L; Wallis, Deeann D

Publication Date: 2022-06-14

Variant appearance in text: NF1: Ser465_Cys509del

PubMed Link: 35433111

Variant Present in the following documents:

• mmc1.pdf

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Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Genes

Bianchessi, Donatella D; Ibba, Maria Cristina MC; Saletti, Veronica V; Blasa, Stefania S; Langella, Tiziana T; Paterra, Rosina R; Cagnoli, Giulia Anna GA; Melloni, Giulia G; Scuvera, Giulietta G; Natacci, Federica F; Cesaretti, Claudia C; Finocchiaro, Gaetano G; Eoli, Marica M

Publication Date: 2020-06-19

Variant appearance in text: NF1: Ser465_Cys509del

PubMed Link: 32575496

Variant Present in the following documents:

• Main text
• genes-11-00671.pdf

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Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Orphanet Journal Of Rare Diseases

Zhu, Guanghui G; Zheng, Yu Y; Liu, Yaoxi Y; Yan, An A; Hu, Zhengmao Z; Yang, Yongjia Y; Xiang, Shiting S; Li, Liping L; Chen, Weijian W; Peng, Yu Y; Zhong, Nanbert N; Mei, Haibo H

Publication Date: 2019-09-18

Variant appearance in text: NF1: 1393_4110del

PubMed Link: 31533797

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1196.pdf

View BVdb publication page