Publications:

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: 2546insG; Val850SerfsX15

PubMed Link: 22155606

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-623.pdf

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A highly sensitive genetic protocol to detect NF1 mutations.

The Journal Of Molecular Diagnostics : Jmd

Valero, María Carmen MC; Martín, Yolanda Y; Hernández-Imaz, Elisabete E; Marina Hernández, Alba A; Meleán, Germán G; Valero, Ana María AM; Javier Rodríguez-Álvarez, Francisco F; Tellería, Dolores D; Hernández-Chico, Concepción C

Publication Date: 2011-03

Variant appearance in text: NF1: 2546_2547insG; Val850SerfsX15

PubMed Link: 21354044

Variant Present in the following documents:

• Main text

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Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Cancer Research

Brems, Hilde H; Park, Caroline C; Maertens, Ophélia O; Pemov, Alexander A; Messiaen, Ludwine L; Messia, Ludwine L; Upadhyaya, Meena M; Claes, Kathleen K; Beert, Eline E; Peeters, Kristel K; Mautner, Victor V; Sloan, Jennifer L JL; Yao, Lawrence L; Lee, Chyi-Chia Richard CC; Sciot, Raf R; De Smet, Luc L; Legius, Eric E; Stewart, Douglas R DR

Publication Date: 2009-09-15

Variant appearance in text: NF1: 2546dupG

PubMed Link: 19738042

Variant Present in the following documents:

• Main text

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