Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene

Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain

Raimund Fahsold, Sven Hoffmeyer, Claudia Mischung et al. · The American Journal of Human Genetics · 2000 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

A clinical study of type 1 neurofibromatosis in north west England

Julie McGaughran, DianaC. Harris, Dian Donnai et al. · Journal of Medical Genetics · 1999 · 201 citations · Full text

Medicine, Dermatology, Pathology +8

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

Ruth A. Heim, Lauren Kam-Morgan, Cameron G. Binnie et al. · Human Molecular Genetics · 1995 · 186 citations

Life Sciences, Genetics, Molecular Genetics +16

Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety

Sarang D Thakkar, U. Feigen, Viktor-Felix Mautner · Neuroradiology · 1999 · 178 citations

Medicine, Neurology, Oncology +16

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1

Human Molecular Genetics · 1998 · 163 citations · Full text

Medicine, Genetics, Molecular Genetics +17