Results 81 to 90 of about 15,451 (115)

On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1

Human Molecular Genetics, 1995
The autosomal dominantly inherited disease neurofibromatosis type 1 (NF1) is caused by mutations of a large gene comprising 59 exons, which code for a protein with 2818 amino acids called neurofibromin. Employing an expressed polymorphic site in exon 5 of the neurofibromin gene, the expression of its alleles was analysed quantitatively by scanning ...
S, Hoffmeyer, G, Assum, J, Griesser, D, Kaufmann, P, Nürnberg, W, Krone   +5 more
openaire   +2 more sources

Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma

Cancer Genetics and Cytogenetics, 1997
The neurofibromatosis type 1 (von Recklinghausen, NF1) gene has been proposed as a suppressor gene in tumors associated with neurofibromatosis. Recent publications have indicated that the NF1 gene can be rearranged in neuroblastoma cell lines. We analyzed DNA from a neuroblastoma patient with NF1 inherited as a familial trait on the paternal side ...
T, Martinsson, R M, Sjöberg, F, Hedborg, P, Kogner   +3 more
openaire   +2 more sources

The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17

Human Genetics, 1990
We have investigated genetic linkage of von Recklinghausen neurofibromatosis (NF1) and achondroplasia (ACH) using chromosome-17 markers that are known to be linked to NF1. Physical proximity of the two loci was suggested by the report of a patient with mental retardation and the de novo occurrence of both NF1 and ACH.
S M, Pulst, J M, Graham, P, Fain, D, Barker, T, Pribyl, J R, Korenberg   +5 more
openaire   +2 more sources

Genomic characterization of the Neurofibromatosis Type 1 gene of Fugu rubripes

Gene, 1998
The genomic structure of the Neurofibromatosis Type1 (NF1) gene of Fugu rubripes was investigated by sequence analysis of two overlapping cosmids. The Fugu NF1 gene spans 27 kb and is 13 times smaller than the human counterpart owing primarily to reduced intron size.
H, Kehrer-Sawatzki, C, Maier, E, Moschgath, G, Elgar, W, Krone   +4 more
openaire   +2 more sources

Regulation of Ras-GAP and the Neurofibromatosis-1 Gene Product by Eicosanoids

Science, 1991
Ras-GAP (GTPase activating protein) is a regulatory protein that stimulates the intrinsic guanosine triphosphatase (GTPase) activity of the proto-oncogene product p21 ras . A domain of the neurofibromatosis gene product (NF1) that has sequence similarity to the catalytic domain of Ras-GAP
J W, Han, F, McCormick, I G, Macara
openaire   +2 more sources

Genetics of neurofibromatosis 1 and the NF1 gene.

Journal of child neurology, 2003
Neurofibromatosis 1 serves as a paradigm for understanding the principles of human genetics. The concepts of gene mutation, penetrance of the condition, variable clinical expressivity, mosaicism, age-dependent expression of clinical manifestations, and pleiotropy are evident in this autosomal dominant condition.
openaire   +1 more source

[From gene to disease; neurofibromatosis type 1].

Nederlands tijdschrift voor geneeskunde, 2001
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterised by café-au-lait spots, freckling in the axillary or inguinal region, dermal and plexiform neurofibromas and Lisch nodules. Complications are severe in one third of patients, and the clinical variability is pronounced, even within families.
A, de Goede-Bolder, M H, Cnossen, D, Dooijes, A M, van den Ouweland, M F, Niermeijer   +4 more
openaire   +1 more source

Management of Neurofibromatosis Type 1-Associated Plexiform Neurofibromas

Neuro-Oncology, 2022
Kaleb Yohay, Robert Listernick, Nicole J Ullrich   +2 more
exaly  

Histogenesis control genes and neurofibromatosis 1

European Journal of Pediatrics, 2000
openaire   +1 more source

Neurofibromatoses

Ca-A Cancer Journal for Clinicians, 1992
D W Dunn, Karen L Roos
exaly