(Q35174859)

6 August 2017

title

Large intron 14 rearrangement in APC results in splice defect and attenuated FAP. (English)

1 reference

6 August 2017

Thérèse M F Tuohy

1

1 reference

6 August 2017

Michelle W Done

2

1 reference

6 August 2017

Michelle S Lewandowski

3

1 reference

6 August 2017

Patricia M Shires

4

1 reference

6 August 2017

Devki S Saraiya

5

1 reference

6 August 2017

Sherry C Huang

6

1 reference

6 August 2017

Deborah W Neklason

7

1 reference

6 August 2017

Randall W Burt

8

1 reference

6 August 2017

publication date

22 December 2009

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6 August 2017

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6 August 2017

volume

127

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6 August 2017

issue

3

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6 August 2017

page(s)

359-369

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-009-0776-9

6 August 2017

exact match

0 references

cites work

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A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

13 July 2018

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Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

13 July 2018

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13 July 2018

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

13 July 2018

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Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.

13 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-009-0776-9

Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients.

21 January 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression.

27 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

Familial Adenomatous Polyposis

27 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

Topoisomerase-I- and Alu-mediated genomic deletions of the APC gene in familial adenomatous polyposis.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

Three novel germline mutations in the adenomatous polyposis coli gene.

27 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

Multiple APC messenger RNA isoforms encoding exon 15 short open reading frames are expressed in the context of a novel exon 10A‐derived sequence

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159508

Phenotypic variation in colorectal adenoma/cancer expression in two families. Hereditary flat adenoma syndrome

27 September 2018

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12 December 2020

Muir-Torre syndrome caused by partial duplication of MSH2 gene by Alu-mediated nonhomologous recombination

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12 December 2020

A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group

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12 December 2020

Upper gastrointestinal manifestations in families with hereditary flat adenoma syndrome

1 reference

12 December 2020

The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis

1 reference

12 December 2020

Germline mutations of the APC gene in Korean familial adenomatous polyposis patients

1 reference

12 December 2020

A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family

1 reference

12 December 2020

10.1007/S00439-009-0776-9

Identifiers

DOI

1 reference

6 August 2017

1 reference

6 August 2017

1 reference