(Q40479884)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

review article

1 reference

title

Neurofibromatosis type 1: pathology, clinical features and molecular genetics (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

author name string

Krone W

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

Menon AG

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

publication date

1 April 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

page(s)

153-162

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity

23 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Mouse neurofibromatosis type 1 cDNA sequence reveals high degree of conservation of both coding and non-coding mRNA segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Differential regulation of rasGAP and neurofibromatosis gene product activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

The genetic aspects of neurofibromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Expression of P30, a protein with adhesive properties, in Schwann cells and neurons of the developing and regenerating peripheral nerve

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Identification and characterization of the neurofibromatosis type 1 protein product

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Identification of the neurofibromatosis type 1 gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Modulation of the neurofibromatosis type 1 gene product, neurofibromin, during Schwann cell differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Regulation of Ras-GAP and the neurofibromatosis-1 gene product by eicosanoids

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Antibody against neurofibromatosis type 1 gene product reacts with a triton-insoluble GTPase activating protein toward ras p21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Unequal expression of NF1 alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Differential expression and tissue distribution of type I and type II neurofibromins during mouse fetal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Tumour predisposition in mice heterozygous for a targeted mutation in Nf1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Somatic mutations in the neurofibromatosis 1 gene in human tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Genomic organization of the neurofibromatosis 1 gene (NF1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Alternative splicing of neurofibromatosis type 1 gene transcript in malignant brain tumors: PCR analysis of frozen-section mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Neurofibromatosis. A review of the clinical problem

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis: loss of heterozygosity for chromosome 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

The neurofibromatosis type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

A de novo Alu insertion results in neurofibromatosis type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

The neurofibromatosis type 1 gene encodes a protein related to GAP

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1995.TB00589.X

10.1111/J.1750-3639.1995.TB00589.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7670656%20AND%20SRC:MED&resulttype=core&format=json

23 October 2019

1 reference