(Q80497233)

English

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia

scientific article published on 16 January 2008

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scholarly article

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1 January 2020

Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia (English)

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1 January 2020

4

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Alain Verloes

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1 January 2020

author name string

Anouck Schneider

1

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1 January 2020

Brigitte Benzacken

2

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1 January 2020

Agnès Guichet

3

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1 January 2020

Dominique Bonneau

5

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1 January 2020

Nathalie Collot

6

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1 January 2020

Florence Dastot-Le-Moal

7

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1 January 2020

Michel Goossens

8

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1 January 2020

Laurence Taine

9

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1 January 2020

Emilie Landais

10

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1 January 2020

Dominique Gaillard

11

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1 January 2020

Martine Doco-Fenzy

12

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1 January 2020

publication date

16 January 2008

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1 January 2020

European Journal of Human Genetics

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1 January 2020

16

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1 January 2020

6

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1 January 2020

680-687

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1 January 2020

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201977

0 references

Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion 14q and pericentric inversion 14

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the chromosome 14 origin of a C-negative marker associated with a 14q32 deletion by chromosome painting

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Terminal 14q32.33 deletion: genotype-phenotype correlation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Distal monosomy 14 not associated with ring formation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis redefines three human chromosome 14 deletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Child with multiple congenital anomalies and mosaicism 46, XX/46,XX, del (14)(q32.3)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Terminal deletion (14)(q32.3): a new case

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Delineation of 14q32.3 deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Further delineation of the chromosome 14q terminal deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Retinal/macular pigmentation in conjunction with ring 14 chromosome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Distal trisomy 17q

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Epigenetic detection of human chromosome 14 uniparental disomy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Type 3 deiodinase is critical for the maturation and function of the thyroid axis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201977

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201977

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18197200%20AND%20SRC:MED&resulttype=core&format=json

1 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:18197200%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

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