Concepedia

NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

Alessandro De Luca, Irene Bottillo, Anna Sárközy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia,

The American Journal of Human Genetics · 2005 · 153 citations · 51 references

DOIFull text

Open access

Concepts

References

51

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

Nicolas Guex, Manuel C. Peitsch · Electrophoresis · 1997 · 11.3K citations

, , +7

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

, , +11

Neurofibromatosis

Archives of Neurology · 1988 · 1.5K citations

, , +11

The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2

David H. Gutmann · JAMA · 1997 · 1.3K citations

, , +14

Neurofibromatosis. Conference statement, National Institute of Health development conference

Da Stumpf · JAMA Neurology · 1988 · 1.2K citations

, , +5