Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy. (Q42143538)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Liesbeth Backx

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Joris Vermeesch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Anja Weise

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Nadezda Kosyakova

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Joana B Melo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

publication date

4 August 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

published in

Molecular Cytogenetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

page(s)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

4 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Complex and segmental uniparental disomy updated

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Inverted duplications: how many of them are mosaic?

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Partial tetrasomy of chromosome 3q and mosaicism in a child with autism

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Microdissection based high resolution multicolor banding for all 24 human chromosomes

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Diagnostic uses of the Vineland Adaptive Behavior Scales

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

The Brachmann-de Lange syndrome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Chromosome instability is common in human cleavage-stage embryos.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

A new case of dup(3q) syndrome due to a pure duplication of 3qter.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

17 August 2018

Analphoid 3qter markers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2734522

Brachmann-de Lange syndrome. A continuing enigma

17 August 2018

1 reference

12 December 2020

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

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

Familial de Lange syndrome with chromosome abnormalities

1 reference

12 December 2020

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome

1 reference

12 December 2020

Unusual small supernumerary marker chromosome (sSMC) 9 in a Klinefelter patient

1 reference

12 December 2020

Identifiers

DOI

10.1186/1755-8166-2-16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

PubMed publication ID

19653912

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19653912%20AND%20SRC:MED&resulttype=core&format=json