(Q51895423)

English

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

scientific article published in September 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

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

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

author name string

M Smyk

1

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

E Obersztyn

2

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

B Nowakowska

3

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

M Nawara

4

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

S W Cheung

5

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

T Mazurczak

6

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

P Stankiewicz

7

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

E Bocian

8

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

publication date

1 September 2008

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

147B

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

6

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

799-806

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Association of partial AZFc region deletions with spermatogenic impairment and male infertility

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Disomy of distal Xq in males: case report and overview.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

MECP2 mutation in male patients with non-specific X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

X-linked mental retardation: many genes for a complex disorder

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Functional disomy of the Xq28 chromosome region

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

A familial Xp+ chromosome, dup (Xq26.3-->qter).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Rett syndrome: new clinical and molecular insights.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Epithelial NEMO links innate immunity to chronic intestinal inflammation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.30683

21 January 2018

Identifiers

10.1002/AJMG.B.30683

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18165974

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