(Q57757783)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25425167%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

review article

1 reference

title

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature (English)

1 reference

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23 February 2020

1 reference

3

1 reference

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23 February 2020

Didier Lacombe

17

1 reference

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23 February 2020

Marlene Rio

28

1 reference

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23 February 2020

Serge Romana

29

1 reference

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23 February 2020

Laurence Colleaux

31

1 reference

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23 February 2020

Valérie Malan

35

1 reference

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23 February 2020

14

Delphine Héron

1 reference

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23 February 2020

author name string

Mathilde Nizon

1

1 reference

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23 February 2020

Joris Andrieux

2

1 reference

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23 February 2020

Marie-Christine de Blois

4

1 reference

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23 February 2020

Emilie Bourel-Ponchel

5

1 reference

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23 February 2020

Béatrice Bourgois

6

1 reference

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23 February 2020

Odile Boute

7

1 reference

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23 February 2020

Albert David

8

1 reference

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23 February 2020

Bruno Delobel

9

1 reference

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23 February 2020

Bénédicte Duban-Bedu

10

1 reference

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23 February 2020

Fabienne Giuliano

11

1 reference

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23 February 2020

Alice Goldenberg

12

1 reference

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23 February 2020

Sarah Grotto

13

1 reference

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23 February 2020

Houda Karmous-Benailly

15

1 reference

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23 February 2020

Boris Keren

16

1 reference

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23 February 2020

Jean-Michel Lapierre

18

1 reference

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23 February 2020

Cédric Le Caignec

19

1 reference

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23 February 2020

Eric Le Galloudec

20

1 reference

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23 February 2020

Martine Le Merrer

21

1 reference

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23 February 2020

Anne-Gaëlle Le Moing

22

1 reference

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23 February 2020

Michèle Mathieu-Dramard

23

1 reference

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23 February 2020

Sylvie Nusbaum

24

1 reference

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23 February 2020

Olivier Pichon

25

1 reference

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23 February 2020

Lucile Pinson

26

1 reference

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23 February 2020

Odile Raoul

27

1 reference

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23 February 2020

Agnès Roubertie

30

1 reference

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23 February 2020

Catherine Turleau

32

1 reference

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23 February 2020

Michel Vekemans

33

1 reference

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23 February 2020

Rima Nabbout

34

1 reference

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23 February 2020

language of work or name

English

0 references

publication date

25 November 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25425167%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

23 February 2020

published in

1 reference

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23 February 2020

volume

167A

1 reference

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23 February 2020

issue

1

1 reference

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23 February 2020

page(s)

111-122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25425167%20AND%20SRC:MED&resulttype=core&format=json

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

23 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

X-inactivation profile reveals extensive variability in X-linked gene expression in females

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Escapees on the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Autism in two females with duplications involving Xp11.22-p11.23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Genomic organization, expression profile, and characterization of the new protein PRA1 domain family, member 2 (PRAF2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Mechanisms for human genomic rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

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/10.1002%2FAJMG.A.36807

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Expression profile of PRAF2 in the human brain and enrichment in synaptic vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Oocyte-specific overexpression of mouse bone morphogenetic protein-15 leads to accelerated folliculogenesis and an early onset of acyclicity in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

PQBP-1 transgenic mice show a late-onset motor neuron disease-like phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

A novel function of bone morphogenetic protein-15 in the pituitary: selective synthesis and secretion of FSH by gonadotropes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

mShal, a subfamily of A-type K+ channel cloned from mammalian brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

The MECP2 duplication syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

GRASP-1 is a neuronal scaffold protein for the JNK signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

Genes that escape X-inactivation in humans have high intraspecific variability in expression, are associated with mental impairment but are not slow evolving.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36807

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36807

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25425167%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference