(Q80130915)

English

Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity

scientific article published on 01 August 2004

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162125%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162125%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Philippos C Patsalis

1

1 reference

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28 December 2019

Paola Evangelidou

2

1 reference

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28 December 2019

Spyros Charalambous

3

1 reference

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28 December 2019

Carolina Sismani

4

1 reference

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28 December 2019

publication date

1 August 2004

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28 December 2019

European Journal of Human Genetics

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28 December 2019

12

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28 December 2019

8

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28 December 2019

647-653

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28 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201211

0 references

A cytogenetic survey of 11,680 newborn infants

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

Correlation between euploid structural chromosome rearrangements and mental subnormality in humans.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

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Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

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Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

Fetal translocation between chromosomes 2, 18, and 21 resolved by fish

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial complex chromosome rearrangement ascertained by in situ hybridisation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

Cytogenetic studies in couples experiencing repeated pregnancy losses

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo complex chromosome rearrangement in identical twins with multiple congenital anomalies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201211

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201211

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162125%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162125%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

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