(Q80998304)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16077735%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies (English)

1 reference

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5 January 2020

author name string

Oliver Bartsch

1

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5 January 2020

Anne Loitzsch

2

1 reference

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5 January 2020

Peter Kozlowski

3

1 reference

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5 January 2020

Marie-Luise Mazauric

4

1 reference

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5 January 2020

Gabriele Hickmann

5

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5 January 2020

publication date

1 November 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16077735%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

5 January 2020

published in

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5 January 2020

volume

13

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5 January 2020

issue

11

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5 January 2020

page(s)

1192-1204

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201473

5 January 2020

exact match

0 references

cites work

Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Marker chromosomes in a series of 10,000 prenatal diagnoses. Cytogenetic and follow-up studies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescencein situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

A 10-year survey, 1980-1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by FISH analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12,699 prenatal samples

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Two new cases of analphoid marker chromosomes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Definition of a new alpha satellite suprachromosomal family characterized by monomeric organization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

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.5201473

7 January 2021

Failure to detect DUP25 in lymphoblastoid cells derived from patients with panic disorder and control individuals representing European and American populations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

A search for uniparental disomy in carriers of supernumerary marker chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: trisomy rescue due to marker chromosome formation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Kousseff syndrome caused by deletion of chromosome 22q11-13

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Hedgehog signaling and human disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

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.5201473

7 January 2021

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201473

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201473

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16077735%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference