Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers (Q34278704)

1 August 2017

title

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

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1 August 2017

Verena Wiest

1

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1 August 2017

Ingrid Eisenbarth

2

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1 August 2017

Claudia Schmegner

3

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1 August 2017

Winfrid Krone

4

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1 August 2017

Günter Assum

5

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1 August 2017

publication date

1 December 2003

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1 August 2017

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1 August 2017

volume

22

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1 August 2017

issue

6

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1 August 2017

page(s)

423-427

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Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients

1 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.10272

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.10272

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.10272

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10272

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.10272

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10272

7 January 2021

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

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https://api.crossref.org/works/10.1002%2FHUMU.10272

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.10272

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10272

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10272

7 January 2021

A candidate gene approach within the susceptibility region PCaP on 1q42.2-43 excludes deleterious mutations of the PCTA-1 gene to be responsible for hereditary prostate cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10272

7 January 2021

Site-specific DNA methylation in the neurofibromatosis (NF1) promoter interferes with binding of CREB and SP1 transcription factors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10272

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.10272

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.10272

7 January 2021

Identification of NF1 mutations in both alleles of a dermal neurofibroma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10272

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.10272

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.10272

7 January 2021

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10272

7 January 2021

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.10272

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.10272

7 January 2021

Identifiers

DOI

10.1002/HUMU.10272

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1 August 2017

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