(Q38354157)

2 September 2017

title

Deletion in the FMR1 gene in a fragile-X male (English)

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2 September 2017

1

Mannermaa A

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2 September 2017

Pulkkinen L

2

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2 September 2017

Kajanoja E

series ordinal

3

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2 September 2017

Ryynänen M

series ordinal

4

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2 September 2017

Saarikoski S

series ordinal

5

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2 September 2017

publication date

1 August 1996

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American Journal of Medical Genetics Part A

2 September 2017

published in

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2 September 2017

volume

64

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2 September 2017

issue

2

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2 September 2017

page(s)

293-295

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A point mutation in the FMR-1 gene associated with fragile X mental retardation

2 September 2017

cites work

1 reference

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Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

21 January 2018

1 reference

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Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype

21 January 2018

1 reference

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Fragile X syndrome without CCG amplification has an FMR1 deletion

21 January 2018

1 reference

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A de novo deletion in FMR1 in a patient with developmental delay

21 January 2018

1 reference

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Two new cases of FMR1 deletion associated with mental impairment.

21 January 2018

1 reference

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Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

21 January 2018

1 reference

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A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

21 January 2018

1 reference

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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C293%3A%3AAID-AJMG12%3E3.0.CO%3B2-A

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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Population incidence and segregation ratios in the Martin-Bell syndrome.

21 January 2018

1 reference

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Fragile X genotype characterized by an unstable region of DNA.

21 January 2018

1 reference

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Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase

21 January 2018

1 reference

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Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

21 January 2018

1 reference

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An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C293%3A%3AAID-AJMG12%3E3.0.CO%3B2-A

10.1002/(SICI)1096-8628(19960809)64:2<293::AID-AJMG12>3.0.CO;2-A

21 January 2018

Identifiers

DOI

1 reference

2 September 2017

1 reference