(Q52148691)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420639%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

title

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420639%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

4

1 reference

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25 February 2020

Jeanne Amiel

5

1 reference

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25 February 2020

Annick Toutain

29

1 reference

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25 February 2020

Valérie Cormier-Daire

31

1 reference

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25 February 2020

Marlene Rio

32

1 reference

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25 February 2020

Jean-Paul Bonnefont

33

1 reference

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25 February 2020

Charles Coutton

48

1 reference

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25 February 2020

Didier Lacombe

49

1 reference

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25 February 2020

45

Séverine Drunat

1 reference

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25 February 2020

37

Alexandra Afenjar

1 reference

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25 February 2020

35

Bernard Echenne

1 reference

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25 February 2020

43

Clarisse Baumann

1 reference

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25 February 2020

author name string

Salima El Chehadeh

1

1 reference

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25 February 2020

Laurence Faivre

2

1 reference

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25 February 2020

Anne-Laure Mosca-Boidron

3

1 reference

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25 February 2020

Mathilde Nizon

6

1 reference

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25 February 2020

Renaud Touraine

7

1 reference

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25 February 2020

Fabienne Prieur

8

1 reference

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25 February 2020

Laurent Pasquier

9

1 reference

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25 February 2020

Patrick Callier

10

1 reference

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25 February 2020

Mathilde Lefebvre

11

1 reference

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25 February 2020

Nathalie Marle

12

1 reference

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25 February 2020

Christèle Dubourg

13

1 reference

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25 February 2020

Sophie Julia

14

1 reference

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25 February 2020

Catherine Sarret

15

1 reference

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25 February 2020

Christine Francannet

16

1 reference

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25 February 2020

Fanny Laffargue

17

1 reference

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25 February 2020

Odile Boespflug-Tanguy

18

1 reference

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25 February 2020

Albert David

19

1 reference

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25 February 2020

Bertrand Isidor

20

1 reference

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25 February 2020

Cédric Le Caignec

21

1 reference

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25 February 2020

Jacqueline Vigneron

22

1 reference

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25 February 2020

Bruno Leheup

23

1 reference

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25 February 2020

Laetitia Lambert

24

1 reference

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25 February 2020

Christophe Philippe

25

1 reference

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25 February 2020

Jean-Marie Cuisset

26

1 reference

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25 February 2020

Joris Andrieux

27

1 reference

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25 February 2020

Ghislaine Plessis

28

1 reference

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25 February 2020

Alice Goldenberg

30

1 reference

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25 February 2020

Julien Thevenon

34

1 reference

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25 February 2020

Hubert Journel

36

1 reference

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25 February 2020

Lydie Burglen

38

1 reference

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25 February 2020

Thierry Bienvenu

39

1 reference

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25 February 2020

Marie-Claude Addor

40

1 reference

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25 February 2020

Sébastien Lebon

41

1 reference

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25 February 2020

Danièle Martinet

42

1 reference

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25 February 2020

Laurence Perrin

44

1 reference

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25 February 2020

Pierre-Simon Jouk

46

1 reference

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25 February 2020

Françoise Devillard

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420639%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Marie-Ange Delrue

50

1 reference

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25 February 2020

Nicole Philip

51

1 reference

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25 February 2020

Anne Moncla

52

1 reference

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25 February 2020

Catherine Badens

53

1 reference

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25 February 2020

Nathalie Perreton

54

1 reference

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25 February 2020

Alice Masurel

55

1 reference

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25 February 2020

Christel Thauvin-Robinet

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420639%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

Vincent Des Portes

57

1 reference

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25 February 2020

Laurent Guibaud

58

1 reference

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25 February 2020

language of work or name

English

0 references

publication date

30 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420639%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

25 February 2020

published in

1 reference

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25 February 2020

volume

170A

1 reference

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25 February 2020

issue

1

1 reference

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25 February 2020

page(s)

116-129

1 reference

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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

25 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Unexplained mental retardation: is brain MRI useful?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Neurologic aspects of MECP2 gene duplication in male patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

The Jnk1 and Jnk2 protein kinases are required for regional specific apoptosis during early brain development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Increasing structural atrophy and functional isolation of the temporal lobe with duration of disease in temporal lobe epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

MECP2 duplication syndrome in both genders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.37384

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37384

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26420639%20AND%20SRC:MED&resulttype=core&format=json

release_eg7ckptn5vg5jgikb4kz2nzcma

25 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/eg7ckptn5vg5jgikb4kz2nzcma

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

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