(Q75259315)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14722914%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

title

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

1 reference

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17 November 2019

2

Reiner Siebert

1 reference

Hildegard Kehrer-Sawatzki

17 November 2019

6

object named as

Hildegard Kehrer-Sawatzki

1 reference

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17 November 2019

1

Lan Kluwe

1 reference

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17 November 2019

author name string

Stefan Gesk

3

1 reference

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17 November 2019

Reinhard E Friedrich

4

1 reference

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17 November 2019

Sigrid Tinschert

5

1 reference

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17 November 2019

Victor-F Mautner

7

1 reference

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17 November 2019

publication date

1 February 2004

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17 November 2019

1 reference

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17 November 2019

volume

23

1 reference

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17 November 2019

page(s)

111-116

1 reference

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17 November 2019

issue

2

1 reference

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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

17 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene

1 reference

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7 January 2021

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

1 reference

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7 January 2021

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

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.10299

7 January 2021

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

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.10299

7 January 2021

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

Recent developments in the diagnosis and management of neurofibromatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

Allelic losses at 1p, 9q, 10q, 14q, and 22q in the progression of aggressive meningiomas and undifferentiated meningeal sarcomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

NF1 mutations and clinical spectrum in patients with spinal neurofibromas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

The human gene mutation database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

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.10299

7 January 2021

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

Recombination hotspot in NF1 microdeletion patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

Interphase FISH assays for the detection of translocations with breakpoints in immunoglobulin light chain loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

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.10299

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.10299

7 January 2021

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

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.10299

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.10299

7 January 2021

Malignant peripheral nerve sheath tumor: analysis of treatment outcome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10299

7 January 2021

Identifiers

DOI

10.1002/HUMU.10299

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14722914%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference