APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes. (Q54193595)

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English	APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

26 May 2018

http://europepmc.org/abstract/MED/25159889

APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes. (English)

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Europe PubMed Central

PubMed publication ID

26 May 2018

http://europepmc.org/abstract/MED/25159889

familial adenomatous polyposis

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based on heuristic

inferred from title

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25159889%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25159889%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Orsetta Zuffardi

8

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25159889%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Guglielmina N Ranzani

9

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25159889%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Marialuisa Quadri

1

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6 June 2020

Viviana Gismondi

3

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6 June 2020

Monica Marabelli

4

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6 June 2020

Paola Sala

6

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6 June 2020

Liliana Varesco

7

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6 June 2020

publication date

1 March 2015

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PubMed publication ID

26 May 2018

http://europepmc.org/abstract/MED/25159889

Familial Cancer

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25159889%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

14

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6 June 2020

1

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6 June 2020

41-49

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6 June 2020

Inherited colorectal cancer syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Familial adenomatous polyposis of the colon

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Detection of genetic alterations in hereditary colorectal cancer screening

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

The many faces and functions of β-catenin

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

APC promoter 1B deletion in familial polyposis--implications for mutation-negative families

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5q.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Genotype-phenotype correlation of a 5q22.3 deletion associated with craniofacial and limb defects.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Signal recognition particle: an essential protein-targeting machine

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

A class of membrane proteins shaping the tubular endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Structural and functional control of the eukaryotic mRNA decapping machinery.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Identification of a Gene Located at Chromosome 5q21 that Is Mutated in Colorectal Cancers

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

The clinical and genetic spectrum of spinocerebellar ataxia 14

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Mutations in NALP12 cause hereditary periodic fever syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Genomic rearrangements in inherited disease and cancer

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Adenomatous Polyposis Families That ScreenAPCMutation–Negative by Conventional Methods Are Genetically Heterogeneous

1 reference

https://api.crossref.org/works/10.1007%2FS10689-014-9750-3

21 January 2018

Allele-specific expression of APC in adenomatous polyposis families.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25159889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of APC gene deletion by double competitive polymerase chain reaction in patients with familial adenomatous polyposis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/25159889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25159889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unexpected results in the constitution of small supernumerary marker chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/25159889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q

1 reference

https://pubmed.ncbi.nlm.nih.gov/25159889

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10689-014-9750-3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25159889%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25159889%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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