(Q39260899)

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Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

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10 September 2017

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study (English)

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10 September 2017

fragile X syndrome

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David E Godler

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David J Amor

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John L Hopper

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Danuta Z Loesch

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Danuta Z Loesch

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Yoshimi Inaba

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Howard R Slater

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Howard R Slater

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Randi J. Hagerman

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Randi J Hagerman

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Cindy Skinner

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Charles E. Schwartz

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Charles E Schwartz

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Elva Z Shi

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Amy S Herlihy

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David Francis

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Alison Arvaj

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Kate Pope

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Tiffany Wotton

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Jonathan Cohen

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Jacqueline K Hewitt

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Sylvia A Metcalfe

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publication date

11 October 2012

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Genetics in Medicine

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290-298

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10 September 2017

https://scigraph.springernature.com/pub.10.1038/gim.2012.134

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Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

The psychosocial impact of Klinefelter syndrome and factors influencing quality of life

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https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review

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https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

A review of trisomy X (47,XXX)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Autism, language and communication in children with sex chromosome trisomies

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Prevalence of the fragile X syndrome in African-Americans

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Absence of expression of the FMR-1 gene in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Synaptic synthesis of the Fragile X protein: possible involvement in synapse maturation and elimination

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Evidence for altered Fragile-X mental retardation protein expression in response to behavioral stimulation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Quantification of mRNA using real-time reverse transcription PCR (RT-PCR): trends and problems.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Advances in the treatment of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Economic evaluation of prenatal population screening for fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Association between carrier screening and incidence of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

A decision-tree approach to cost comparison of newborn screening strategies for cystic fibrosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

21 January 2018

Commentary on population screening for fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

7 January 2021

based on heuristic

inferred from DOI database lookup

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

7 January 2021

based on heuristic

inferred from DOI database lookup

Brain morphology in Klinefelter syndrome: extra X chromosome and testosterone supplementation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.134

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/GIM.2012.134

1 reference

Europe PubMed Central

PubMed publication ID

10 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 September 2017

ResearchGate publication ID

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