(Q28144835)

5 July 2017

Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. (English)

1 reference

5 July 2017

Eisenbarth I

1

1 reference

5 July 2017

Beyer K

series ordinal

2

1 reference

5 July 2017

Krone W

series ordinal

3

1 reference

5 July 2017

Assum G

series ordinal

4

1 reference

5 July 2017

language of work or name

English

0 references

publication date

1 February 2000

1 reference

American Journal of Human Genetics

5 July 2017

1 reference

5 July 2017

66

1 reference

5 July 2017

393-401

1 reference

5 July 2017

2

1 reference

A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors

5 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP.Ras

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Mutation and cancer: statistical study of retinoblastoma

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

RNA processing and clinical variability in neurofibromatosis type I (NF1)

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

APC gene: database of germline and somatic mutations in human tumors and cell lines

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Methylation at dinucleotides other than CpG: implications for human maintenance methylation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288091

Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31

27 November 2018

1 reference

12 December 2020

Identification of NF1 mutations in both alleles of a dermal neurofibroma

1 reference

12 December 2020

Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene

1 reference

12 December 2020

Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps

1 reference

12 December 2020

Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma

1 reference

12 December 2020

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference

1 reference

12 December 2020

Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines

1 reference

12 December 2020

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

1 reference

12 December 2020

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Identifiers

DOI

10.1086/302747

1 reference

5 July 2017

1 reference

5 July 2017

1 reference