(Q49075112)

18 February 2018

title

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas (English)

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18 February 2018

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3

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18 February 2018

Geert Mortier

9

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18 February 2018

Frank Speleman

11

object named as

Frank Speleman

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18 February 2018

Ludwine Messiaen

13

object named as

Ludwine Messiaen

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18 February 2018

author name string

Ophélia Maertens

1

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18 February 2018

Hilde Brems

2

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18 February 2018

Thomas De Raedt

4

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18 February 2018

Ine Heyns

5

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18 February 2018

Thorsten Rosenbaum

6

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18 February 2018

Sofie De Schepper

7

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18 February 2018

Anne De Paepe

8

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18 February 2018

Sandra Janssens

10

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18 February 2018

Eric Legius

12

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18 February 2018

publication date

1 October 2006

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18 February 2018

published in

Human Mutation

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18 February 2018

volume

27

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18 February 2018

issue

10

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18 February 2018

page(s)

1030-1040

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18 February 2018

Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

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/10.1002%2FHUMU.20389

7 January 2021

Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Growth of a rat neuroblastoma cell line in serum-free supplemented medium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Mutator phenotypes of yeast strains heterozygous for mutations in the MSH2 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Methylation analysis of the neurofibromatosis type 1 (NF1) promoter in peripheral nerve sheath tumours.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Eukaryotic DNA mismatch repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Genomic organization of the neurofibromatosis 1 gene (NF1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Identification of NF1 mutations in both alleles of a dermal neurofibroma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Associations of clinical features in neurofibromatosis 1 (NF1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Patterns of associations of clinical features in neurofibromatosis 1 (NF1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Quantification of NF1 transcripts reveals novel highly expressed splice variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Elimination of primer-dimer artifacts and genomic coamplification using a two-step SYBR green I real-time RT-PCR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20389

7 January 2021

Identifiers

DOI

10.1002/HUMU.20389

1 reference

18 February 2018

1 reference

18 February 2018