(Q34080211)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author

Lucia Anna Muscarella

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Vito Guarnieri

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Paola Parrella

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Michelina Coco

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Serena Belli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Giuseppe Pulcrano

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Domenico Catapano

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Vincenzo A D'Angelo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Leopoldo Zelante

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Leonardo D'Agruma

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

publication date

27 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biomedicine and Biotechnology

12 February 2020

published in

1 reference

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12 February 2020

volume

2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

4597-4605

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

12 February 2020

copyright license

start time

1 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

The MTERF family proteins: mitochondrial transcription regulators and beyond.

1 reference

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Mutation of an A-kinase-anchoring protein causes long-QT syndrome

5 July 2018

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Deletions in CCM2 are a common cause of cerebral cavernous malformations

5 July 2018

1 reference

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5 July 2018

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CCM3 mutations are uncommon in cerebral cavernous malformations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2926733

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2926733

Analysis of the role of ubiquitin-interacting motifs in ubiquitin binding and ubiquitylation

5 July 2018

1 reference

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Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

5 July 2018

1 reference

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Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

5 July 2018

1 reference

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2926733

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2926733

Anticipation in familial cavernous angioma: ascertainment bias or genetic cause.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2926733

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2926733

Cerebral cavernous malformations. Incidence and familial occurrence

5 July 2018

1 reference

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Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie.

5 July 2018

1 reference

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Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F854737

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F854737

Large germline deletions and duplication in isolated cerebral cavernous malformation patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F854737

Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F854737

Identification of two novel mutations and of a novel critical region in the KRIT1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F854737

Rapid detection of VHL exon deletions using real-time quantitative PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F854737

Anticipation in familial cavernous angioma: a study of 52 families from International Familial Cavernous Angioma Study. IFCAS Group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F854737

Antifungal drug resistance in pathogenic fungi

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2926733

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20798775

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20798775

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1155/2010/854737

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20798775%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference