(Q55472386)

English

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

scientific article published in February 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Martino Ruggieri

9

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

David N. Cooper

11

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Andreas von Deimling

10

object named as

Andreas von Deimling

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

author name string

Meena Upadhyaya

1

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Song Han

2

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Claudia Consoli

3

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Elisa Majounie

4

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Martin Horan

5

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Nick S Thomas

6

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Christopher Potts

7

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

Sian Griffiths

8

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

publication date

1 February 2004

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

23

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

2

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

134-146

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

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Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation

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Validation of denaturing high performance liquid chromatography as a rapid detection method for the identification of human INK4A gene mutations

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Rb and TP53 pathway alterations in sporadic and NF1-related malignant peripheral nerve sheath tumors

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Clonality and genetic divergence in multifocal low-grade superficial urothelial carcinoma as determined by chromosome 9 and p53 deletion analysis

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Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene

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Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.

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

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Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q

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Frequency of homozygous deletion at p16/CDKN2 in primary human tumours

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NF1 tumor suppressor gene function: narrowing the GAP

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7 January 2021

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

1 reference

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7 January 2021

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Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression

1 reference

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7 January 2021

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Identification and mapping of type 1 neurofibromatosis (NF1) homologous loci

1 reference

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7 January 2021

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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

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7 January 2021

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Elevated risk for MPNST in NF1 microdeletion patients

1 reference

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7 January 2021

based on heuristic

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

1 reference

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7 January 2021

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Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.

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7 January 2021

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Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

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7 January 2021

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Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q

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7 January 2021

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An Alu polymorphism intragenic to the TP53 gene

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7 January 2021

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

1 reference

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7 January 2021

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Molecular and cytogenetic analysis of tumors in von Recklinghausen neurofibromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

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The neurofibromatoses: when less is more

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7 January 2021

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Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes

1 reference

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7 January 2021

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Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.

1 reference

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7 January 2021

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Identification and characterization of NF1 -related loci on human chromosomes 22, 14 and 2

1 reference

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7 January 2021

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Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours

1 reference

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Tumour predisposition in mice heterozygous for a targeted mutation in Nf1

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7 January 2021

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Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

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Cytogenetic analysis of soft tissue sarcomas. Recurrent chromosome abnormalities in malignant peripheral nerve sheath tumors (MPNST).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

A search for evidence of somatic mutations in the NF1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Low level mosaicism detectable by DHPLC but not by direct sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

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A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.

1 reference

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7 January 2021

based on heuristic

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Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro

1 reference

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7 January 2021

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Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas

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7 January 2021

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Mutation and cancer: statistical study of retinoblastoma

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7 January 2021

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Losses in chromosomes 17, 19, and 22q in neurofibromatosis type 1 and sporadic neurofibromas: a comparative genomic hybridization analysis

1 reference

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7 January 2021

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NF1-related locus on chromosome 15

1 reference

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7 January 2021

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

TP53 mutations are frequent in malignant NF1 tumors

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic mutations in the neurofibromatosis 1 gene in human tumors

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Recombination hotspot in NF1 microdeletion patients

1 reference

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7 January 2021

based on heuristic

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Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22.

1 reference

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7 January 2021

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p53 mutation as the second event in juvenile chronic myelogenous leukemia in a patient with neurofibromatosis type 1

1 reference

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7 January 2021

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A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene

1 reference

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7 January 2021

based on heuristic

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Immunohistochemical and molecular analysis of p53, RB, and PTEN in malignant peripheral nerve sheath tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

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Thinking beyond the tumor cell: Nf1 haploinsufficiency in the tumor environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of chromosomal imbalances in sporadic and NF1-associated peripheral nerve sheath tumors by comparative genomic hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the p53 gene occur in diverse human tumour types

1 reference

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7 January 2021

based on heuristic

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Computer-assisted cytogenetic analysis of 51 malignant peripheral-nerve-sheath tumors: sporadic vs. neurofibromatosis-type-1-associated malignant schwannomas

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of NF1 mutations in both alleles of a dermal neurofibroma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic analysis of a NF1-related pseudogene on human chromosome 21.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Pathogenesis of hereditary tumors: beyond the "two-hit" hypothesis

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Lack of genetic and epigenetic changes in CDKN2A in melanocytic nevi.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Spidey: a tool for mRNA-to-genomic alignments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurofibromin, a tumor suppressor in the nervous system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10305

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10305

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 July 2018

http://europepmc.org/abstract/MED/14722917

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