(Q52618070)

4 May 2018

title

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay. (English)

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4 May 2018

author name string

Trilochan Sahoo

1

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4 May 2018

Aaron Theisen

2

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4 May 2018

Michael Marble

3

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4 May 2018

Raymond Tervo

4

1 reference

4 May 2018

Jill A Rosenfeld

5

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4 May 2018

Beth S Torchia

6

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4 May 2018

Lisa G Shaffer

7

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4 May 2018

language of work or name

English

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publication date

7 November 2011

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4 May 2018

American Journal of Medical Genetics

published in

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4 May 2018

volume

155A

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4 May 2018

issue

12

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4 May 2018

page(s)

3110-3115

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4 May 2018

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

cites work

1 reference

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FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

21 January 2018

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FRAXE mutation analysis in three Spanish families.

21 January 2018

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A candidate gene for mild mental handicap at the FRAXE fragile site

21 January 2018

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Expression of the murine homologue of FMR2 in mouse brain and during development

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Monogenic causes of X-linked mental retardation.

21 January 2018

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

21 January 2018

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The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.34345

Identification of the gene FMR2, associated with FRAXE mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34345

FMR2 expression in families with FRAXE mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34345

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34345

Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator

21 January 2018

1 reference

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Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders.

21 January 2018

1 reference

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Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.

21 January 2018

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The genetic basis of non-syndromic intellectual disability: a review

21 January 2018

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Non-specific X linked mental retardation

21 January 2018

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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

21 January 2018

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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

21 January 2018

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FRAXE and mental retardation

21 January 2018

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Amplification of the Xq28 FRAXE repeats: extreme phenotype variability?

21 January 2018

1 reference

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Microdeletions in FMR2 may be a significant cause of premature ovarian failure

21 January 2018

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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

21 January 2018

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Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.

21 January 2018

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Clinical and molecular contributions to the understanding of X-linked mental retardation

21 January 2018

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

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Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34345

FRAXA and FRAXE: the results of a five year survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34345

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34345

1 reference

4 May 2018

1 reference

4 May 2018