(Q35447154)

8 August 2017

0 references

Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report (English)

1 reference

8 August 2017

1 reference

Shiyu Luo

1

1 reference

8 August 2017

Wen Huang

2

1 reference

8 August 2017

Qiuping Xia

3

1 reference

8 August 2017

Yan Xia

4

1 reference

8 August 2017

Qian Du

5

1 reference

8 August 2017

Lingqian Wu

6

1 reference

8 August 2017

Ranhui Duan

7

1 reference

8 August 2017

25 November 2014

1 reference

8 August 2017

1 reference

8 August 2017

15

1 reference

8 August 2017

125

1 reference

Creative Commons Attribution 4.0 International

8 August 2017

start time

25 November 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s12881-014-0125-2

0 references

cites work

The fragile X gene and its function

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411709

Fragile X syndrome and deletions in FMR1: new case and review of the literature

12 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411709

Fragile X syndrome without CCG amplification has an FMR1 deletion

12 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4411709

263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype

12 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0125-2

Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0125-2

Mutational analyses of the FMR1 gene in Chinese pediatric population of fragile x suspects: low tolerance for point mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0125-2

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0125-2

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0125-2

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0125-2

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25421229

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-014-0125-2

1 reference

Dimensions Publication ID

8 August 2017

0 references

1 reference

8 August 2017

1 reference