Publications:

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Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report.

Medicine

Dong, Meng-Jie MJ; Yang, Zhong-Kun ZK; Yang, Ji J; Guo, Rui-Qin RQ; Xiao, Yu-Yuan YY; Liu, Hai H

Publication Date: 2022-07-08

Variant appearance in text: NF1: Arg1038Gly

PubMed Link: 35801779

Variant Present in the following documents:

• medi-101-e29280.pdf

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Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C.

Journal Of Personalized Medicine

Awad, Elias K EK; Moore, Marc M; Liu, Hui H; Ciszewski, Lukasz L; Lambert, Laura L; Korf, Bruce R BR; Popplewell, Linda L; Kesterson, Robert A RA; Wallis, Deeann D

Publication Date: 2021-12-07

Variant appearance in text: NF1: Arg1038Gly

PubMed Link: 34945792

Variant Present in the following documents:

• jpm-11-01320.pdf

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Restoration of Normal NF1 Function with Antisense Morpholino Treatment of Recurrent Pathogenic Patient-Specific Variant c.1466A>G; p.Y489C.

Journal Of Personalized Medicine

Awad, Elias K EK; Moore, Marc M; Liu, Hui H; Ciszewski, Lukasz L; Lambert, Laura L; Korf, Bruce R BR; Popplewell, Linda L; Kesterson, Robert A RA; Wallis, Deeann D

Publication Date: 2021-12-07

Variant appearance in text: NF1: Arg1038Gly

PubMed Link: 34945792

Variant Present in the following documents:

• jpm-11-01320.pdf

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

European Journal Of Human Genetics : Ejhg

Forde, Claire C; Burkitt-Wright, Emma E; Turnpenny, Peter D PD; Haan, Eric E; Ealing, John J; Mansour, Sahar S; Holder, Muriel M; Lahiri, Nayana N; Dixit, Abhijit A; Procter, Annie A; Pacot, Laurence L; Vidaud, Dominique D; Capri, Yline Y; Gerard, Marion M; Dollfus, Hélène H; Schaefer, Elise E; Quelin, Chloé C; Sigaudy, Sabine S; Busa, Tiffany T; Vera, Gabriella G; Damaj, Lena L; Messiaen, Ludwine L; Stevenson, David A DA; Davies, Peter P; Palmer-Smith, Sheila S; Callaway, Alison A; Wolkenstein, Pierre P; Pasmant, Eric E; Upadhyaya, Meena M

Publication Date: 2022-03

Variant appearance in text: NF1: 3112A>G; Arg1038Gly

PubMed Link: 34897289

Variant Present in the following documents:

• Main text
• 41431_2021_Article_1015.pdf

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Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1.

Frontiers In Neurology

Wang, Wei W; Wei, Cheng-Jiang CJ; Cui, Xi-Wei XW; Li, Yue-Hua YH; Gu, Yi-Hui YH; Gu, Bin B; Li, Qing-Feng QF; Wang, Zhi-Chao ZC

Publication Date: 2021

Variant appearance in text: NF1: 3112A>G; Arg1038Gly

PubMed Link: 34566848

Variant Present in the following documents:

• Main text
• fneur-12-704639.pdf

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.

Cancers

Scala, Marcello M; Schiavetti, Irene I; Madia, Francesca F; Chelleri, Cristina C; Piccolo, Gianluca G; Accogli, Andrea A; Riva, Antonella A; Salpietro, Vincenzo V; Bocciardi, Renata R; Morcaldi, Guido G; Di Duca, Marco M; Caroli, Francesco F; Verrico, Antonio A; Milanaccio, Claudia C; Viglizzo, Gianmaria G; Traverso, Monica M; Baldassari, Simona S; Scudieri, Paolo P; Iacomino, Michele M; Piatelli, Gianluca G; Minetti, Carlo C; Striano, Pasquale P; Garrè, Maria Luisa ML; De Marco, Patrizia P; Diana, Maria Cristina MC; Capra, Valeria V; Pavanello, Marco M; Zara, Federico F

Publication Date: 2021-04-14

Variant appearance in text: NF1: 3112A>G; Arg1038Gly

PubMed Link: 33919865

Variant Present in the following documents:

• Main text

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Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants.

Cancers

Morbidoni, Valeria V; Baschiera, Elisa E; Forzan, Monica M; Fumini, Valentina V; Ali, Dario Seif DS; Giorgi, Gianpietro G; Buson, Lisa L; Desbats, Maria Andrea MA; Cassina, Matteo M; Clementi, Maurizio M; Salviati, Leonardo L; Trevisson, Eva E

Publication Date: 2021-02-27

Variant appearance in text: NF1: 3112A>G; Arg1038Gly

PubMed Link: 33673681

Variant Present in the following documents:

• Main text
• cancers-13-00999.pdf

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Preventative Effect of Mebendazole against Malignancies in Neurofibromatosis 1.

Genes

Staedtke, Verena V; Gray-Bethke, Tyler T; Riggins, Gregory J GJ; Bai, Ren-Yuan RY

Publication Date: 2020-07-08

Variant appearance in text: NF1: Arg1038Gly

PubMed Link: 32650362

Variant Present in the following documents:

• Main text

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Brain tumors in Neurofibromatosis type 1.

Neuro-Oncology Advances

Costa, Amanda De Andrade AA; Gutmann, David H DH

Publication Date: 2019

Variant appearance in text: NF1: Arg1038Gly

PubMed Link: 32642668

Variant Present in the following documents:

• vdz040.pdf

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Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.

Stem Cell Reports

Anastasaki, Corina C; Wegscheid, Michelle L ML; Hartigan, Kelly K; Papke, Jason B JB; Kopp, Nathan D ND; Chen, Jiayang J; Cobb, Olivia O; Dougherty, Joseph D JD; Gutmann, David H DH

Publication Date: 2020-04-14

Variant appearance in text: NF1: 3112A>G

PubMed Link: 32243842

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

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In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

International Journal Of Molecular Sciences

Accetturo, Matteo M; Bartolomeo, Nicola N; Stella, Alessandro A

Publication Date: 2020-01-22

Variant appearance in text: NF1: Arg1038Gly

PubMed Link: 31979111

Variant Present in the following documents:

• ijms-21-00721.pdf

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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V

Publication Date: 2019-11-21

Variant appearance in text: NF1: 3112A>G; Arg1038Gly

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.

Molecular Genetics & Genomic Medicine

Trevisson, Eva E; Morbidoni, Valeria V; Forzan, Monica M; Daolio, Cecilia C; Fumini, Valentina V; Parrozzani, Raffaele R; Cassina, Matteo M; Midena, Edoardo E; Salviati, Leonardo L; Clementi, Maurizio M

Publication Date: 2019-05

Variant appearance in text: NF1: 3112A>G; Arg1038Gly

PubMed Link: 30843352

Variant Present in the following documents:

• Main text
• MGG3-7-e616.pdf

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Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

Italian Journal Of Pediatrics

Corsello, Giovanni G; Antona, Vincenzo V; Serra, Gregorio G; Zara, Federico F; Giambrone, Clara C; Lagalla, Luca L; Piccione, Maria M; Piro, Ettore E

Publication Date: 2018-04-04

Variant appearance in text: NF1: 3112A>G

PubMed Link: 29618358

Variant Present in the following documents:

• Main text
• 13052_2018_Article_483.pdf

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