Infectious and immunologic phenotype of MECP2 duplication syndrome (Q41344253)

25721700

29 September 2017

title

Infectious and immunologic phenotype of MECP2 duplication syndrome (English)

1 reference

29 September 2017

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Carmen Orellana

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Maria-Isabel Tejada

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Olivier Patat

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Annick Toutain

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Aleksandra Jezela-Stanek

24

object named as

Aleksandra Jezela-Stanek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

21

Alexandra Afenjar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

30

Dagmar Wieczorek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

32

Hilde Van Esch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

27

Bernard Echenne

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Michael Bauer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Uwe Kölsch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Renate Krüger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nadine Unterwalder

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Karin Hameister

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Fabian Marc Kaiser

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Aglaia Vignoli

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Rainer Rossi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Maria Pilar Botella

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Magdalena Budisteanu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Monica Rosello

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sorina Mihaela Papuc

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Sophie Julia

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Renaud Touraine

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Thusari Gomes

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Kirsten Wenner

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Xiu Xu

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nicole Philip

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Ludwig Gortner

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Volker Wahn

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Christian Meisel

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Salima El-Chehadeh

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Horst von Bernuth

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

publication date

27 February 2015

1 reference

25721700

Journal of Clinical Immunology

29 September 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

168-181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

4 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

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/10.1007%2FS10875-015-0129-5

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/10.1007%2FS10875-015-0129-5

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

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/10.1007%2FS10875-015-0129-5

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

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/10.1007%2FS10875-015-0129-5

Distal Xq duplication and functional Xq disomy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

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/10.1007%2FS10875-015-0129-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

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/10.1007%2FS10875-015-0129-5

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/10.1007%2FS10875-015-0129-5

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Neurologic aspects of MECP2 gene duplication in male patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

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/10.1007%2FS10875-015-0129-5

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

MECP2 duplications in six patients with complex sex chromosome rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Second-trimester prenasal and prefrontal skin thickening - association with MECP2 triplication syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Brief report: regression timing and associated features in MECP2 duplication syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

MECP2 duplication phenotype in symptomatic females: report of three further cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

The MECP2 duplication syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

The main Aeromonas pathogenic factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Immunochemical and biological characterization of three capsular polysaccharides from a single Bacteroides fragilis strain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Polysaccharide biosynthesis locus required for virulence of Bacteroides fragilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Capsulate bacteria and the lung

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Capsule polysaccharide is a bacterial decoy for antimicrobial peptides.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

The algR gene, which regulates mucoidy in Pseudomonas aeruginosa, belongs to a class of environmentally responsive genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Staphylococcus aureus capsular polysaccharides

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Development of a vaccine against Staphylococcus aureus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Immune evasion by staphylococci

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

The importance of the group a streptococcus capsule in the pathogenesis of human infections: a historical perspective.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Thermoregulation of capsule production by Streptococcus pyogenes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Primary immunodeficiencies: a rapidly evolving story

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Induction of IgG3 secretion by interferon gamma: a model for T cell-independent class switching in response to T cell-independent type 2 antigens

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

T-bet regulates T-independent IgG2a class switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-015-0129-5

Capsular polysaccharides are an important immune evasion mechanism for Staphylococcus aureus

21 January 2018

1 reference

12 December 2020

MECP2 duplication in a patient with congenital central hypoventilation

1 reference

12 December 2020

Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients

1 reference

12 December 2020

Interferon-gamma and B cell stimulatory factor-1 reciprocally regulate Ig isotype production

1 reference

12 December 2020

MECP2 Duplication Syndrome

1 reference

12 December 2020

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints

1 reference

12 December 2020

The capsular polysaccharide complex of Bacteroides fragilis induces cytokine production from human and murine phagocytic cells.

1 reference

12 December 2020

MECP2 duplication: possible cause of severe phenotype in females

1 reference

12 December 2020

Encapsulated Staphylococcus aureus strains vary in adhesiveness assessed by atomic force microscopy

1 reference

12 December 2020

Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.

1 reference

12 December 2020

Novel clinical finding in MECP2 duplication syndrome

1 reference

12 December 2020

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome

1 reference

12 December 2020

Genome Sequence of Klebsiella oxytoca M5al, a Promising Strain for Nitrogen Fixation and Chemical Production

1 reference

12 December 2020

Upregulation of capsule enables Streptococcus pyogenes to evade immune recognition by antigen-specific antibodies directed to the G-related alpha2-macroglobulin-binding protein GRAB located on the bacterial surface

1 reference

12 December 2020

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses

1 reference

12 December 2020

The ica locus of Staphylococcus epidermidis encodes production of the capsular polysaccharide/adhesin.

1 reference

12 December 2020

Unique ability of the Proteus mirabilis capsule to enhance mineral growth in infectious urinary calculi

1 reference

12 December 2020

MECP2 duplication syndrome in both genders

1 reference

12 December 2020

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2

1 reference

12 December 2020

10.1007/S10875-015-0129-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

25721700

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25721700%20AND%20SRC:MED&resulttype=core&format=json