A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype. (Q45229258)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

Severe mental retardation

7 January 2020

main subject

karyotype

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Renato Borgatti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Maria Clara Bonaglia

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Orsetta Zuffardi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Romano Tenconi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Marco Pessina

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Tiziano Pramparo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

publication date

1 May 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

7 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

586-591

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201369

7 January 2020

exact match

0 references

cites work

Molecular mechanisms for constitutional chromosomal rearrangements in humans

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Segmental duplications and the evolution of the primate genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

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?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

The first three mosaic cri du chat syndrome patients with two rearranged cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Molecular and cytogenetic characterization of 9p- abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

An assessment of the sequence gaps: unfinished business in a finished human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Inverted duplications: how many of them are mosaic?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

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%2FSJ.EJHG.5201369

Gene dosage evidence for the regional assignment of GPT (glutamate-pyruvate transaminase; E. C. 2.6.1.2) locus to 8q24.2→8qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

7 January 2021

Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

7 January 2021

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

7 January 2021

Chromosome abnormalities and epileptic seizures

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

7 January 2021

The end of the beginning of chromosome ends

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201369

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201369

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15657611%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 January 2020

1003058935

0 references

1 reference