Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients. (Q54593019)

1 June 2018

title

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

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1 June 2018

6

Raf Sciot

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10

Frank Speleman

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Ludwine Messiaen

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object named as

Ludwine Messiaen

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Magdalena Chmara

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object named as

Magdalena Chmara

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Joris R Vermeesch

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object named as

Joris Robert Vermeesch

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1 June 2018

author name string

Thomas De Raedt

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1 June 2018

Ophélia Maertens

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Hilde Brems

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Ine Heyns

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Elisa Majounie

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Meena Upadhyaya

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Sofie De Schepper

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Eric Legius

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publication date

1 October 2006

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Genes, Chromosomes and Cancer

published in

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volume

45

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issue

10

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1 June 2018

page(s)

893-904

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1 June 2018

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

cites work

1 reference

7 January 2021

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

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7 January 2021

Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients

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7 January 2021

Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours

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7 January 2021

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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7 January 2021

Genomic organization and evolution of the NF1 microdeletion region.

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7 January 2021

Elevated risk for MPNST in NF1 microdeletion patients

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7 January 2021

Intelligence in individuals with a neurofibromatosis type 1 microdeletion

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7 January 2021

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

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7 January 2021

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

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7 January 2021

Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system

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7 January 2021

Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas

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7 January 2021

Glial membranes at the node of Ranvier prevent neurite outgrowth

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7 January 2021

Recent developments in the diagnosis and management of neurofibromatosis

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7 January 2021

Frag1, a homolog of alternative replication factor C subunits, links replication stress surveillance with apoptosis

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7 January 2021

NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation

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7 January 2021

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene

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7 January 2021

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

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7 January 2021

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

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7 January 2021

The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization

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7 January 2021

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

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NF2 gene deletion in a family with a mild phenotype.

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7 January 2021

Recombination hotspot in NF1 microdeletion patients

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7 January 2021

Alterations at chromosome 17 loci in peripheral nerve sheath tumors

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7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

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7 January 2021

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

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7 January 2021

Pathways of DNA double-strand break repair and their impact on the prevention and formation of chromosomal aberrations

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7 January 2021

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

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7 January 2021

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

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7 January 2021

Long-term culture and characterization of human neurofibroma-derived Schwann cells

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7 January 2021

Identification of NF1 mutations in both alleles of a dermal neurofibroma

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

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7 January 2021

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

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7 January 2021

Childhood overgrowth in patients with common NF1 microdeletions.

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7 January 2021

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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7 January 2021

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome

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7 January 2021

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

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7 January 2021

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

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7 January 2021

Somatic point mutation of the wild-type allele detected in tumors of patients with VHL germline deletion

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7 January 2021

Somatic mutations in VHL germline deletion kindred correlate with mild phenotype.

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7 January 2021

Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers

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7 January 2021

Loss of heterozygosity on the short arm of chromosome 3 in sporadic, von Hippel-Lindau disease-associated, and familial pheochromocytoma

1 reference

7 January 2021

Identifiers

DOI

10.1002/GCC.20353

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1 June 2018

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1 June 2018