Concepedia

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Pietro Palumbo, Antonio Petracca, Roberto Maggi, Tommaso Biagini, Grazia Nardella, Michele Sacco, Elia Di Schiavi, Massimo Carella, Lucia Micale, Marco Castori

European Journal of Human Genetics · 2019 · 20 citations · 22 references

DOIFull text

Open access

Concepts

References

22

Primer3 on the WWW for General Users and for Biologist Programmers

Steve Rozen, Helen Skaletsky · Humana Press eBooks · 2003 · 15.1K citations

, , +7

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont et al. · Nature Genetics · 2003 · 830 citations

, , +9

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Maximilian Muenke, Ute Schell, Andreas Hehr et al. · Nature Genetics · 1994 · 623 citations

, , +10

Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation

Kenneth E. White, J. M. Segura Cabral, Siobhan I. Davis et al. · The American Journal of Human Genetics · 2005 · 320 citations · Full text

, , +12

Fibroblast growth factor (FGF) signaling in development and skeletal diseases

Chad M. Teven, Evan M. Farina, Jane Rivas et al. · Genes & Diseases · 2014 · 237 citations · Full text

, , +17