From gene to disease: Neurofibromatosis type 1;Van gen naar ziekte: Neurofibromatosis type I

Nederlands Tijdschrift voor Geneeskunde

Volumn 145, Issue 36, 2001, Pages 1736-1738

  De Goede Bolder, A ^a   Cnossen, M H ^a   Dooijes, D ^a   Van Den Ouweland, A M W ^a   Niermeijer, M F ^a  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CELL GROWTH; CHROMOSOME 17Q; CLINICAL FEATURE; GENE LOCATION; GENE MUTATION; GENETIC COUNSELING; GROWTH INHIBITION; HUMAN; MOLECULAR CLONING; NEUROFIBROMA; NEUROFIBROMATOSIS; SKIN NODULE; TUMOR SUPPRESSOR GENE;

CHILD; CHROMOSOMES, HUMAN, PAIR 17; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GENES, NEUROFIBROMATOSIS 1; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; MUTATION; NERVE TISSUE PROTEINS; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PHENOTYPE; RISK;

EID: 0035828422     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1
2. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
3. Mutation and cancer: Statistical study of retino-blastoma
4. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders
5. Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells
6. Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules
7. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
8. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene