(Q41936275)

14 October 2017

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization (English)

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14 October 2017

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Irene Madrigal

1

1 reference

14 October 2017

Miguel Fernández-Burriel

2

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14 October 2017

Laia Rodriguez-Revenga

3

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14 October 2017

Jose Carlos Cabrera

4

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14 October 2017

Milagros Martí

5

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14 October 2017

Antonio Mur

6

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14 October 2017

Montserrat Milà

7

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14 October 2017

23 September 2010

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Journal of Human Genetics

14 October 2017

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14 October 2017

55

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14 October 2017

12

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14 October 2017

822-826

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https://scigraph.springernature.com/pub.10.1038/jhg.2010.119

14 October 2017

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cites work

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/10.1038%2FJHG.2010.119

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

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/10.1038%2FJHG.2010.119

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

A new syndrome with mental retardation, short stature and an Xq duplication.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Physical mapping of an Xq-proximal interstitial duplication in a male

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

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/10.1038%2FJHG.2010.119

7 January 2021

Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangements.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Molecular cytogenetic identification of four X chromosome duplications

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

The GTPase superfamily: a conserved switch for diverse cell functions

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Gene duplication and inactivation in the HPRT gene family

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Molecular physiology of vertebrate Na+/H+ exchangers

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

The expanding family of eucaryotic Na(+)/H(+) exchangers

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

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/10.1038%2FJHG.2010.119

7 January 2021

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.119

7 January 2021

Identifiers

DOI

10.1038/JHG.2010.119

1 reference

14 October 2017

1 reference