Elevated risk for MPNST in NF1 microdeletion patients (Q33904745)

29 July 2017

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Elevated risk for MPNST in NF1 microdeletion patients (English)

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29 July 2017

De Raedt T

1

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29 July 2017

Brems H

2

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29 July 2017

Wolkenstein P

3

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29 July 2017

Vidaud D

4

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29 July 2017

Pilotti S

5

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29 July 2017

Perrone F

6

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29 July 2017

Mautner V

7

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29 July 2017

Frahm S

8

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29 July 2017

Sciot R

9

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29 July 2017

Legius E

10

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29 July 2017

language of work or name

English

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publication date

26 March 2003

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American Journal of Human Genetics

29 July 2017

published in

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29 July 2017

volume

72

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29 July 2017

issue

5

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29 July 2017

page(s)

1288-1292

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Malignant peripheral nerve sheath tumours in neurofibromatosis 1

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

Do NF1 gene deletions result in a characteristic phenotype?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

Deletion of the entire NF1 gene causing distinct manifestations in a family.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180281

Clinical application of genetic polymorphism in neurofibromatosis type 1

29 October 2018

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

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12 December 2020

Germline mutations in NF1 patients with malignancies

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12 December 2020

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

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12 December 2020

Recombination hotspot in NF1 microdeletion patients

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12 December 2020

Malignant schwannoma of the head and neck

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12 December 2020

Identifiers

DOI

10.1086/374821

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29 July 2017

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29 July 2017

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