(Q41936508)

14 October 2017

title

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

1 reference

14 October 2017

A W El-Hattab

1

1 reference

14 October 2017

J Bournat

2

1 reference

14 October 2017

P A Eng

3

1 reference

14 October 2017

J B S Wu

4

1 reference

14 October 2017

B A Walker

5

1 reference

14 October 2017

P Stankiewicz

6

1 reference

14 October 2017

S W Cheung

7

1 reference

14 October 2017

C W Brown

8

1 reference

14 October 2017

publication date

1 June 2011

1 reference

14 October 2017

1 reference

14 October 2017

volume

79

1 reference

14 October 2017

issue

6

1 reference

14 October 2017

page(s)

531-538

1 reference

14 October 2017

cites work

XLMR genes: update 2007.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

High-resolution genomic microarrays for X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

STRING 8--a global view on proteins and their functional interactions in 630 organisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Impairment of axonal development and of synaptogenesis in hippocampal neurons of synapsin I-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

KAP-1, a novel corepressor for the highly conserved KRAB repression domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Targeting histone deacetylase complexes via KRAB-zinc finger proteins: the PHD and bromodomains of KAP-1 form a cooperative unit that recruits a novel isoform of the Mi-2alpha subunit of NuRD

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

SETDB1: a novel KAP-1-associated histone H3, lysine 9-specific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Direct interaction of the KRAB/Cys2-His2 zinc finger protein ZNF74 with a hyperphosphorylated form of the RNA polymerase II largest subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Structure and function of the ftsH gene in Escherichia coli.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

The FtsJ/RrmJ heat shock protein of Escherichia coli is a 23 S ribosomal RNA methyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Spb1p is a yeast nucleolar protein associated with Nop1p and Nop58p that is able to bind S-adenosyl-L-methionine in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

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/10.1111%2FJ.1399-0004.2010.01496.X

Natural history of Williams syndrome: physical characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Williams syndrome: cognition, personality, and adaptive behavior

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Pragmatic language impairment and social deficits in Williams syndrome: a comparison with Down's syndrome and specific language impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Analysis of knock-out mice to determine the role of HPC-1/syntaxin 1A in expressing synaptic plasticity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

Vesicular restriction of synaptobrevin suggests a role for calcium in membrane fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01496.X

10.1111/J.1399-0004.2010.01496.X

21 January 2018

Identifiers

DOI

1 reference

14 October 2017

1 reference