Molecular genetics of neurofibromatosis type 1 (NF1) (Q24518449)

Journal of Medical Genetics

Europe PubMed Central

title

Molecular genetics of neurofibromatosis type 1 (NF1) (English)

0 references

1 reference

M H Shen

1

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P S Harper

series ordinal

2

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M Upadhyaya

series ordinal

3

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language of work or name

English

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publication date

January 1996

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published in

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volume

33

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page(s)

2-17

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issue

1

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cites work

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

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24 March 2017

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The neurofibromatosis type 1 gene encodes a protein related to GAP

24 March 2017

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24 March 2017

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A de novo Alu insertion results in neurofibromatosis type 1

24 March 2017

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24 March 2017

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24 March 2017

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27 September 2017

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The neurofibromatosis type 1 gene

27 September 2017

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

27 September 2017

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An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle

27 September 2017

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Suppression of oncogenic Ras by mutant neurofibromatosis type 1 genes with single amino acid substitutions

27 September 2017

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An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

27 September 2017

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Neurofibromin can inhibit Ras-dependent growth by a mechanism independent of its GTPase-accelerating function

27 September 2017

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Functional evidence for a second tumor suppressor gene on human chromosome 17.

27 September 2017

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Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

27 September 2017

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Current methods of mutation detection

27 September 2017

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Neurofibromatosis: clinical heterogeneity

27 September 2017

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Pulmonary stenosis, cafe-au-lait spots, and dull intelligence

27 September 2017

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A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

27 September 2017

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New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.

27 September 2017

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An exclusion map for Von Recklinghausen neurofibromatosis

27 September 2017

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The genetic aspects of neurofibromatosis

27 September 2017

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Linkage of NF1 to 12 chromosome 17 markers: a summary of eight concurrent reports

27 September 2017

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A transgenic mouse model for human neurofibromatosis

27 September 2017

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27 September 2017

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27 September 2017

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Novel metabolism of several beta zero-thalassemic beta-globin mRNAs in the erythroid tissues of transgenic mice

27 September 2017

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Transplacental induction of peripheral nervous tumor in the Syrian golden hamster by N-nitroso-N-ethylurea. A new animal model for von Recklinghausen's neurofibromatosis

27 September 2017

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ras GTPase activating protein: signal transmitter and signal terminator

27 September 2017

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A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling

27 September 2017

1 reference

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Progress towards identifying the neurofibromatosis (NF1) gene

27 September 2017

1 reference

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Multipoint linkage analysis in neurofibromatosis type I: an international collaboration

27 September 2017

1 reference

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Precise localization of NF1 to 17q11.2 by balanced translocation

27 September 2017

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Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

27 September 2017

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A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

27 September 2017

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The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

27 September 2017

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ras and GAP--who's controlling whom?

27 September 2017

1 reference

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A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region

27 September 2017

1 reference

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Evi-2, a common integration site involved in murine myeloid leukemogenesis

27 September 2017

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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Ras C-terminal processing enzymes--new drug targets?

27 September 2017

1 reference

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Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers

27 September 2017

1 reference

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Posttranslational modification of Ha-ras p21 by farnesyl versus geranylgeranyl isoprenoids is determined by the COOH-terminal amino acid

27 September 2017

1 reference

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ras isoprenylation is required for ras-induced but not for NGF-induced neuronal differentiation of PC12 cells

27 September 2017

1 reference

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The GTPase stimulatory activities of the neurofibromatosis type 1 and the yeast IRA2 proteins are inhibited by arachidonic acid

27 September 2017

1 reference

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Microtubule dynamics: mechanism, regulation, and function.

27 September 2017

1 reference

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis

27 September 2017

1 reference

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

A highly polymorphic cDNA probe in the NF1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

A polymorphic cDNA probe on chromosome 17q11.2 located within the NF1 gene [D17S376].

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Adrenal medullary tumors and iris proliferation in a transgenic mouse model of neurofibromatosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Oncogenes and tumor suppressor genes: new biochemical tests

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

p53: the ultimate tumor suppressor gene?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Familial neurofibromatosis type 1: clinical experience with DNA testing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Signal transduction through small GTPases—A tale of two GAPs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Molecular basis of base substitution hotspots in Escherichia coli

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Neurofibromatosis and childhood leukemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Role for the stem cell factor/KIT complex in Schwann cell neoplasia and mast cell proliferation associated with neurofibromatosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Consequences of frameshift mutations at the immunoglobulin heavy chain locus of the mouse

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Lack of independence between five DNA polymorphisms in the NF1 gene.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Genomic position influences spontaneous mutagenesis of an integrated retroviral vector containing the hprt cDNA as target for mutagenesis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Neurofibromatosis type 1 gene mutations in neuroblastoma

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Specific expression of the neurofibromatosis type 1 gene (NF1) in the hamster Schwann cell

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Unequal expression of NF1 alleles.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Molecular genetic analysis of the von Recklinghausen neurofibromatosis (NF1) gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

The p21 src genes of Harvey and Kirsten sarcoma viruses originate from divergent members of a family of normal vertebrate genes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Cellular ras activity and phospholipid metabolism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Transmissibility of a neurofibromatosis-like disease in bicolor damselfish.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Neurofibromatosis in the bicolor damselfish (Pomacentrus partitus) as a model of von Recklinghausen neurofibromatosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Changes in the extent of microtubule assembly can regulate initiation of DNA synthesis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Guanosine triphosphatase activating protein (GAP) interacts with the p21 ras effector binding domain

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

The cytoplasmic protein GAP is implicated as the target for regulation by the ras gene product.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

PDGF induction of tyrosine phosphorylation of GTPase activating protein

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Identification of neurofibromatosis type I gene product as an insoluble GTPase-activating protein toward ras p21.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

NF1-related locus on chromosome 15

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

The lethal prune/Killer-of-prune interaction of Drosophila causes a syndrome resembling human neurofibromatosis (NF1)

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Genetic analysis of mammalian GAP expressed in yeast.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Neurofibromin is enriched in the endoplasmic reticulum of CNS neurons.

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

A compound nucleotide repeat in the neurofibromatosis (NF1) gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Characterization of a single base-pair deletion in neurofibromatosis type 1.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

neu proto-oncogene mutation is specific for the neurofibromas in a N-nitroso-N-ethylurea-induced hamster neurofibromatosis model but not for hamster melanomas and human Schwann cell tumors.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

The effect of GTPase activating protein upon ras is inhibited by mitogenically responsive lipids

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Familial spinal neurofibromatosis: Clinical and DNA linkage analysis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051805

Absence of hereditary mutations in exons 5 through 9 of the p53 gene and exon 24 of the neurofibromin gene in families with glioma

29 November 2018

1 reference

12 December 2020

The growth regulation of neurofibroma cells in neurofibromatosis type-1: increased responses to PDGF-BB and TGF-beta 1

1 reference

12 December 2020

Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan

1 reference

12 December 2020

Localization of neurofibromin to keratinocytes and melanocytes in developing rat and human skin

1 reference

12 December 2020

Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation

1 reference

12 December 2020

A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)

1 reference

12 December 2020

Ten base pair duplication in exon 38 of the NF1 gene

1 reference

12 December 2020

PCR-mediated genotyping of Candida albicans strains from bone marrow transplant patients

1 reference

12 December 2020

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

1 reference

12 December 2020

Juvenile chronic granulocytic leukemia: emphasis on cutaneous manifestations and underlying neurofibromatosis

1 reference

12 December 2020

Cutaneous manifestation of neurofibromatosis: cellular interaction, pigmentation, and mast cells

1 reference

12 December 2020

Familial neurofibromatosis and juvenile chronic myelogenous leukemia

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations within the FLR exon of NF1 are rare in myelodysplastic syndromes and acute myelocytic leukemias

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

Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots

1 reference

12 December 2020

A new disease-causing mutation in the GAP-related domain of the NF1 gene

1 reference

12 December 2020

Possible involvement of c-kit receptor and its ligand in increase of mast cells in neurofibroma tissues

1 reference

12 December 2020

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Regulated expression of the neurofibromin type I transcript in the developing chicken brain

1 reference

12 December 2020

An EcoRI RFLP in the 5' region of the human NF1 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Tightly linked markers for the neurofibromatosis type 1 gene

1 reference

12 December 2020

Schwannomatosis. An unusual variant of neurofibromatosis or a distinct clinical entity?

1 reference

12 December 2020

Physical mapping of a translocation breakpoint in neurofibromatosis

1 reference

12 December 2020

Two NF1 translocations map within a 600-kilobase segment of 17q11.2.

1 reference

12 December 2020

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

12 December 2020

Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels

1 reference

12 December 2020

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

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

Analysis of the sequence and embryonic expression of chicken neurofibromin mRNA

1 reference

12 December 2020

A novel RsaI polymorphism within intron 39 of the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Two single base polymorphisms in introns 41 and 16 of the NF1 gene

1 reference

12 December 2020

Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis

1 reference

12 December 2020

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.1.2

7 January 2021

Segmental neurofibromatosis

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.1.2

7 January 2021

Differential regulation of rasGAP and neurofibromatosis gene product activities

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.1.2

7 January 2021

Multiple Cell Origin of Hereditary Neurofibromas

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.1.2

7 January 2021

Identification of the neurofibromatosis type 1 gene product

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.1.2

7 January 2021

Identification and characterization of the neurofibromatosis type 1 protein product

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.1.2

7 January 2021

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.1.2

7 January 2021

A BamHI polymorphism in the human EVI2A gene (human homolog of the murine gene Evi-2).

1 reference

https://api.crossref.org/works/10.1136%2FJMG.33.1.2

7 January 2021

Identifiers

DOI

10.1136/JMG.33.1.2

1 reference

release_dkkdkkbng5drfiyknyqddh6vo4

2325322

Fatcat ID

0 references

2325322

1 reference

1 reference

1 reference