The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. (Q53516365)

15 May 2018

title

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. (English)

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15 May 2018

author

Nadia Chuzhanova

4

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15 May 2018

Victor-Felix Mautner

8

object named as

Victor Mautner

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15 May 2018

Lan Kluwe

3

object named as

Lan Kluwe

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15 May 2018

author name string

Meena Upadhyaya

1

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15 May 2018

Gill Spurlock

2

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15 May 2018

Emma Bennett

5

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15 May 2018

Nick Thomas

6

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15 May 2018

Abhijit Guha

7

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15 May 2018

publication date

17 February 2009

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15 May 2018

published in

Neurogenetics

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15 May 2018

volume

10

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15 May 2018

issue

3

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15 May 2018

page(s)

251-263

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15 May 2018

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

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.

1 reference

12 December 2020

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

NF1 mutations and clinical spectrum in patients with spinal neurofibromas

1 reference

12 December 2020

Independent NF1 mutations in two large families with spinal neurofibromatosis

1 reference

12 December 2020

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

1 reference

12 December 2020

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

1 reference

12 December 2020

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

1 reference

12 December 2020

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

1 reference

12 December 2020

An Alu polymorphism intragenic to the TP53 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial spinal neurofibromatosis: Clinical and DNA linkage analysis

1 reference

12 December 2020

Molecular diagnosis of neurofibromatosis type 1: 2 years experience

1 reference

12 December 2020

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1.

1 reference

12 December 2020

Hereditary spinal neurofibromatosis: a rare form of NF1?

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety

1 reference

12 December 2020

TP53 mutations are frequent in malignant NF1 tumors

1 reference

12 December 2020

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

1 reference

12 December 2020

Germline and somatic NF1 gene mutations in plexiform neurofibromas

1 reference

12 December 2020

Familial spinal neurofibromatosis

1 reference

12 December 2020

Breakpoints of gross deletions coincide with non-B DNA conformations

1 reference

12 December 2020

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene

1 reference

12 December 2020

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

1 reference

12 December 2020

Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region

1 reference

12 December 2020

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

1 reference

12 December 2020

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

1 reference

12 December 2020

On the complexity measures of genetic sequences.

1 reference

12 December 2020

Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.

1 reference

12 December 2020

Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formation

1 reference

12 December 2020

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

1 reference

12 December 2020

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

1 reference

12 December 2020

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene

1 reference

12 December 2020

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

1 reference

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/S10048-009-0178-0

Identifiers

DOI

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15 May 2018

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15 May 2018