NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience (Q46339754)

21 December 2017

title

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience (English)

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21 December 2017

genotype-phenotype correlation

main subject

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based on heuristic

inferred from title

neurofibromatosis type I

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2

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21 December 2017

Audrey Sabbagh

object named as

Audrey Sabbagh

1

0 references

Pierre Wolkenstein

object named as

Pierre Wolkenstein

Christine Bellanné-Chantelot

14

0 references

11

object named as

Christine Bellanné-Chantelot

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21 December 2017

Apolline Imbard

3

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21 December 2017

Armelle Luscan

4

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21 December 2017

Magali Soares

5

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21 December 2017

Hélène Blanché

6

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21 December 2017

Ingrid Laurendeau

7

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21 December 2017

Salah Ferkal

8

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21 December 2017

Michel Vidaud

9

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21 December 2017

Stéphane Pinson

10

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21 December 2017

Dominique Vidaud

12

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Béatrice Parfait

13

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21 December 2017

publication date

26 August 2013

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21 December 2017

published in

Human Mutation

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21 December 2017

volume

34

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21 December 2017

issue

11

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21 December 2017

page(s)

1510-1518

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21 December 2017

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

cites work

1 reference

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Alternative splicing of the neurofibromatosis type I pre-mRNA

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Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

21 January 2018

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Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

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Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

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Elevated risk for MPNST in NF1 microdeletion patients

21 January 2018

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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

21 January 2018

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

21 January 2018

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Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene.

21 January 2018

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

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

21 January 2018

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Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

21 January 2018

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

21 January 2018

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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

21 January 2018

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Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

21 January 2018

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SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

21 January 2018

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Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

21 January 2018

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NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

21 January 2018

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Neurofibromatosis type 1: from genotype to phenotype

21 January 2018

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Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

21 January 2018

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Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).

21 January 2018

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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

21 January 2018

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A highly sensitive genetic protocol to detect NF1 mutations

21 January 2018

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Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

21 January 2018

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Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

21 January 2018

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The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion

21 January 2018

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Characterization of functional elements in the neurofibromatosis (NF1) proximal promoter region

21 January 2018

1 reference

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Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22392

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22392

1 reference

21 December 2017

PubMed ID

23913538

1 reference

21 December 2017