(Q51965073)

English

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

scientific article published in July 2001

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scholarly article

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

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

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

3

object named as

Flint J

1 reference

Europe PubMed Central

19 April 2018

author name string

Sismani C

1

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

Armour JA

2

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

Girgalli C

4

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

Regan R

5

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

Patsalis PC

6

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

publication date

1 July 2001

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

European Journal of Human Genetics

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Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

9

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Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

527-532

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Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

7

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200670

0 references

Severe Mental Retardation in a Swedish County – II. Etiologic and Pathogenetic Aspects of Children Born 1959–1970

1 reference

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An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967

1 reference

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7 January 2021

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Aetiology of mild mental retardation

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Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.

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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200670

7 January 2021

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A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

1 reference

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Subtle chromosomal rearrangements in children with unexplained mental retardation

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Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

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Measurement of locus copy number by hybridisation with amplifiable probes

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Sequences from higher primates orthologous to the human Xp/Yp telomere junction region reveal gross rearrangements and high levels of divergence.

1 reference

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How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation

1 reference

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7 January 2021

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The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.

1 reference

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7 January 2021

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Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.

1 reference

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An optimized set of human telomere clones for studying telomere integrity and architecture.

1 reference

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7 January 2021

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The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes.

1 reference

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Molecular-cytogenetic detection of a deletion of 1p36.3.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5200670

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

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0 references

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/11464244

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