(Q57881740)

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A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism

scientific article published on 02 June 2011

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25 January 2020

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism (English)

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25 January 2020

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Juana Fernàndez-Rodríguez

1

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25 January 2020

Gabriel Capella

5

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25 January 2020

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25 January 2020

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25 January 2020

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Conxi Lázaro

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25 January 2020

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Joan Castellsagué

2

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25 January 2020

Llúcia Benito

3

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25 January 2020

Yolanda Benavente

4

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25 January 2020

publication date

2 June 2011

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25 January 2020

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25 January 2020

32

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25 January 2020

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25 January 2020

705-709

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25 January 2020

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Single nucleotide extension technology for quantitative site-specific evaluation of metC/C in GC-rich regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Gene action in the X-chromosome of the mouse (Mus musculus L.)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

The splicing machinery is a genetic modifier of disease severity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Neurofibromatosis: clinical heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

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.21500

21 January 2018

Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

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

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Evidence for common clonal origin of multifocal lung cancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Mutations in von Recklinghausen neurofibromatosis: an hypothesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

21 January 2018

Cystic fibrosis patients with the 3272-26A?G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

7 January 2021

based on heuristic

inferred from DOI database lookup

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

7 January 2021

based on heuristic

inferred from DOI database lookup

What is segmental neurofibromatosis?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

7 January 2021

based on heuristic

inferred from DOI database lookup

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21500

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21500

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21394830%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21394830%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

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