FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22) (Q81498890)

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scientific article published on 01 May 2005

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English	FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22)	scientific article published on 01 May 2005

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756300%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22) (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756300%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Oliver Bartsch

1

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9 January 2020

Sasan Rasi

2

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9 January 2020

Kristina Hoffmann

3

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9 January 2020

Nikolaus Blin

4

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9 January 2020

publication date

1 May 2005

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9 January 2020

European Journal of Human Genetics

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9 January 2020

13

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9 January 2020

5

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9 January 2020

592-598

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9 January 2020

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

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Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere

1 reference

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7 January 2021

based on heuristic

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Dispersed human immunoglobulin kappa light-chain genes

1 reference

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7 January 2021

based on heuristic

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A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

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The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture

1 reference

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7 January 2021

based on heuristic

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Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

The 11q;22q translocation: a European collaborative analysis of 43 cases

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic disorders on 22q11

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Tandem duplication of proximal 22q: a cause of cat-eye syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

A bacterial artificial chromosome-based framework contig map of human chromosome 22q.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Improved simple generation of GTG-band specific painting probes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201378

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201378

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756300%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756300%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

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