(Q53332341)

13 May 2018

title

Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. (English)

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13 May 2018

author

Nadia Chuzhanova

3

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13 May 2018

Laura Thomas

object named as

Laura Thomas

1

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Victor-Felix Mautner

4

object named as

Victor Mautner

1 reference

13 May 2018

Lan Kluwe

2

object named as

Lan Kluwe

1 reference

13 May 2018

author name string

Meena Upadhyaya

5

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13 May 2018

publication date

1 April 2010

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13 May 2018

published in

Neurogenetics

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13 May 2018

volume

11

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13 May 2018

issue

4

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13 May 2018

page(s)

391-400

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13 May 2018

https://scigraph.springernature.com/pub.10.1007/s10048-010-0240-y

exact match

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cites work

Deletions of the INK4A gene occur in malignant peripheral nerve sheath tumors but not in neurofibromas

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

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A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).

21 January 2018

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Role of a p53 polymorphism in the development of human papillomavirus-associated cancer.

21 January 2018

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12 December 2020

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

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New applications and developments in the use of multiplex ligation-dependent probe amplification

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Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

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

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12 December 2020

Context of deletions and insertions in human coding sequences.

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12 December 2020

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

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12 December 2020

Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas

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12 December 2020

Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse

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12 December 2020

Evidence for three tumor suppressor loci on chromosome 9p involved in melanoma development

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12 December 2020

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

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12 December 2020

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

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12 December 2020

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

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12 December 2020

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

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12 December 2020

Alterations of microsatellites in neurofibromas of von Recklinghausen's disease

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12 December 2020

Neurofibroma development in NF1--insights into tumour initiation

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12 December 2020

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

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12 December 2020

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

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12 December 2020

Analysis of somatic NF1 promoter methylation in plexiform neurofibromas and Schwann cells

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Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report

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An Alu polymorphism intragenic to the TP53 gene

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Laser capture microdissection of mammalian tissue

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12 December 2020

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

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12 December 2020

The MspI polymorphism in intron 6 of p53 (TP53) detected by digestion of PCR products

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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

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Recent advances in neurofibromatosis type 1.

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12 December 2020

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

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12 December 2020

Neurofibromatosis type 1.

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12 December 2020

TP53 mutations are frequent in malignant NF1 tumors

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12 December 2020

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients

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12 December 2020

Mouse models of tumor development in neurofibromatosis type 1

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12 December 2020

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

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12 December 2020

Germline and somatic NF1 gene mutations in plexiform neurofibromas

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12 December 2020

NF1 tumor suppressor gene function: narrowing the GAP

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12 December 2020

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing

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12 December 2020

Breakpoints of gross deletions coincide with non-B DNA conformations

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12 December 2020

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

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12 December 2020

Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types.

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12 December 2020

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

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12 December 2020

Mouse tumor model for neurofibromatosis type 1

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Molecular screening of potential HNPCC patients using a multiplex microsatellite PCR system

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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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12 December 2020

How does the Schwann cell lineage form tumors in NF1?

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12 December 2020

On the complexity measures of genetic sequences.

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12 December 2020

Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas

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12 December 2020

Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice

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12 December 2020

Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors

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12 December 2020

Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications

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12 December 2020

Loss of heterozygosity and microsatellite instability at the retinoblastoma locus in osteosarcomas

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12 December 2020

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

1 reference

12 December 2020

10.1007/S10048-010-0240-Y

Identifiers

DOI

1 reference

13 May 2018

PubMed ID

20358387

1 reference

13 May 2018