(Q81471342)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16283621%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients (English)

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9 January 2020

3

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9 January 2020

author name string

Wimmer K

1

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9 January 2020

Yao S

2

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9 January 2020

Kehrer-Sawatzki H

4

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9 January 2020

Tinschert S

5

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9 January 2020

De Raedt T

6

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9 January 2020

Legius E

7

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9 January 2020

Callens T

8

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9 January 2020

Beiglböck H

9

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9 January 2020

Maertens O

10

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9 January 2020

Messiaen L

11

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9 January 2020

publication date

1 March 2006

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Genes, Chromosomes and Cancer

9 January 2020

published in

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9 January 2020

volume

45

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9 January 2020

issue

3

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9 January 2020

page(s)

265-276

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

9 January 2020

cites work

1 reference

7 January 2021

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

1 reference

7 January 2021

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

1 reference

7 January 2021

Distribution of 13 truncating mutations in the neurofibromatosis 1 gene

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7 January 2021

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

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7 January 2021

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions

1 reference

7 January 2021

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

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7 January 2021

Screening for large mutations of the NF2 gene

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7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Recombination hotspot in NF1 microdeletion patients

1 reference

7 January 2021

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

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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

7 January 2021

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.

1 reference

7 January 2021

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

1 reference

7 January 2021

Extended-term cultures of human T-lymphocytes: a practical alternative to primary human lymphocytes for use in genotoxicity testing

1 reference

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

7 January 2021

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

1 reference

7 January 2021

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

1 reference

7 January 2021

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1

1 reference

7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/GCC.20289

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16283621%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

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