(Q34325665)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications (English)

1 reference

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14 January 2020

1

1 reference

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14 January 2020

Roberto Giorda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Orsetta Zuffardi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

author name string

Angelo Massagli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Rita Galluzzi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Roberto Ciccone

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

language of work or name

1 reference

24 September 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

14 January 2020

published in

1 reference

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14 January 2020

volume

17

1 reference

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14 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

page(s)

179-186

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

14 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Intrastrand annealing leads to the formation of a large DNA palindrome and determines the boundaries of genomic amplification in human cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Structure of a palindromic amplicon junction implicates microhomology-mediated end joining as a mechanism of sister chromatid fusion during gene amplification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Molecular mechanisms for constitutional chromosomal rearrangements in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Human SOX11, an upregulated gene during the neural differentiation, has a long 3' untranslated region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Novel member of the zinc finger superfamily: A C2-HC finger that recognizes a glia-specific gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986066

Molecular cloning and RARE cleavage mapping of human 2p, 6q, 8q, 12q, and 18q telomeres

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.160

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.160

Intrachromosomal gene amplification triggered by hairpin-capped breaks requires homologous recombination and is independent of nonhomologous end-joining.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.160

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.160

Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioral problems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.160

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.160

Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update)

21 January 2018

1 reference

12 December 2020

Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22

1 reference

12 December 2020

Partial duplication 2p as the sole abnormality in two cases with anencephaly

1 reference

12 December 2020

The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm

1 reference

12 December 2020

A novel K(+)-dependent DNA synthesis arrest site in a commonly occurring sequence motif in eukaryotes

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18813332%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

PubMed publication ID

18813332

1 reference