(Q39125843)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

meta-analysis

0 references

title

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Paul Kuentz

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Julien Thevenon

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Jean Muller

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Amélie Piton

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

Brigitte Gilbert-Dussardier

2 April 2020

3

object named as

Brigitte Gilbert-Dussardier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

29

Jean-Louis Mandel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

8

Elsa Nourisson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

10

Claire Redin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

25

Alice Masurel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

23

Bernard Jost

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

28

Bénédicte Gérard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

18

Salima El Chehadeh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

7

Claire Feger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

26

Patrick Edery

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

30

Laurence Faivre

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Christel Thauvin-Robinet

27

object named as

Christel Thauvin-Robinet

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

17

Véronique Geoffroy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

6

Vincent des Portes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

author name string

Hélène Poquet

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Massimiliano Rossi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Anne-Sophie Casteleyn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Anne-Laure Mosca-Boidron

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Patrick Callier

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Gaetan Lesca

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Frédéric Huet

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Matthieu Jung

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Benoit Trojak

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Stéphanie Le Gras

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Daphné Lehalle

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Stéphanie Maury

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

publication date

8 February 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

page(s)

423-431

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2016.204

2 April 2020

exact match

0 references

cites work

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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Translating molecular advances in fragile X syndrome into therapy: a review

15 June 2018

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X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

15 June 2018

1 reference

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15 June 2018

1 reference

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The challenges of clinical trials in fragile X syndrome

15 June 2018

1 reference

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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

15 June 2018

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A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome

15 June 2018

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

15 June 2018

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

15 June 2018

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The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome

15 June 2018

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Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

15 June 2018

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A nonsense mutation in FMR1 causing fragile X syndrome

15 June 2018

1 reference

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The behavioral phenotype of FMR1 mutations

15 June 2018

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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15 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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21 August 2018

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21 August 2018

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21 August 2018

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Diagnostic exome sequencing in persons with severe intellectual disability

21 August 2018

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Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

21 August 2018

1 reference

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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 August 2018

1 reference

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Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome.

21 August 2018

1 reference

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New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA Interval

21 August 2018

1 reference

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7 January 2021

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.204

7 January 2021

Fragile X syndrome and deletions in FMR1: New case and review of the literature

1 reference

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7 January 2021

Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome

1 reference

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7 January 2021

The behavior inventory for rating development (BIRD): assessments of reliability and factorial validity

1 reference

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7 January 2021

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2016.204

7 January 2021

Identifiers

DOI

10.1038/EJHG.2016.204

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28176767%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

1 reference