Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review (Q35575754)

8 August 2017

title

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review (English)

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8 August 2017

Ayman W El-Hattab

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8 August 2017

Christian P Schaaf

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8 August 2017

Ping Fang

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8 August 2017

Elizabeth Roeder

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8 August 2017

Virginia E Kimonis

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8 August 2017

Joseph A Church

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8 August 2017

Ankita Patel

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8 August 2017

Sau Wai Cheung

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8 August 2017

publication date

14 March 2015

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8 August 2017

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8 August 2017

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8 August 2017

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Creative Commons Attribution 4.0 International

8 August 2017

start time

14 March 2015

1 reference

April 2022 Public Data File from Crossref

copyrighted

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cites work

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Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and disease

12 July 2018

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Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene

12 July 2018

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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

12 July 2018

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Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya

12 July 2018

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Regulation of the cardiac muscle ryanodine receptor by glutathione transferases

12 July 2018

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MECP2 duplications in six patients with complex sex chromosome rearrangements

12 July 2018

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Detection of clinically relevant exonic copy-number changes by array CGH.

12 July 2018

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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

12 July 2018

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Rab GTPases as coordinators of vesicle traffic

12 July 2018

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

12 July 2018

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CLIC2-RyR1 interaction and structural characterization by cryo-electron microscopy

12 July 2018

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

12 July 2018

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

12 July 2018

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

12 July 2018

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Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes

12 July 2018

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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

26 September 2018

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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.

26 September 2018

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Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture

26 September 2018

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Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.

26 September 2018

1 reference

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X-linked mental retardation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422130

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

26 September 2018

1 reference

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VBP-1 is necessary for morphogenesis in Caenorhabditis elegans.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4422130

X-linked mental retardation

26 September 2018

1 reference

12 December 2020

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

1 reference

12 December 2020

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability

1 reference

12 December 2020

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

1 reference

12 December 2020

10.1186/S12881-015-0157-2

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DOI

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Dimensions Publication ID

8 August 2017

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8 August 2017

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