Publications:

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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: 6791_6792insA; Tyr2264*

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

View BVdb publication page

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NF1 Patients Receiving Breast Cancer Screening: Insights from The Ontario High Risk Breast Screening Program.

Cancers

Maani, Nika N; Westergard, Shelley S; Yang, Joanna J; Scaranelo, Anabel M AM; Telesca, Stephanie S; Thain, Emily E; Schachter, Nathan F NF; McCuaig, Jeanna M JM; Kim, Raymond H RH

Publication Date: 2019-05-22

Variant appearance in text: NF1: 6792insA

PubMed Link: 31121919

Variant Present in the following documents:

• Main text
• cancers-11-00707.pdf

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Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Italian Journal Of Pediatrics

Santoro, Claudia C; Bernardo, Pia P; Coppola, Antonietta A; Pugliese, Umberto U; Cirillo, Mario M; Giugliano, Teresa T; Piluso, Giulio G; Cinalli, Giuseppe G; Striano, Salvatore S; Bravaccio, Carmela C; Perrotta, Silverio S

Publication Date: 2018-03-22

Variant appearance in text: NF1: 6791_6792insA

PubMed Link: 29566708

Variant Present in the following documents:

• Main text
• 13052_2018_Article_477.pdf

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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Human Genomics

Alkindy, Adila A; Chuzhanova, Nadia N; Kini, Usha U; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2012-08-13

Variant appearance in text: NF1: 6791insA

PubMed Link: 23244495

Variant Present in the following documents:

• Main text
• 1479-7364-6-12.pdf

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Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics

Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2011-10

Variant appearance in text: NF1: 6791insA

PubMed Link: 22155606

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-623.pdf

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Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

European Journal Of Human Genetics : Ejhg

Thomas, Laura L; Spurlock, Gill G; Eudall, Claire C; Thomas, Nick S NS; Mort, Matthew M; Hamby, Stephen E SE; Chuzhanova, Nadia N; Brems, Hilde H; Legius, Eric E; Cooper, David N DN; Upadhyaya, Meena M

Publication Date: 2012-04

Variant appearance in text: NF1: 6791insA

PubMed Link: 22108604

Variant Present in the following documents:

• Main text

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