(Q40533026)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15266302%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Inverted duplications: how many of them are mosaic? (English)

1 reference

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30 December 2019

4

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30 December 2019

Mariano Rocchi

12

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30 December 2019

Sabrina Giglio

2

1 reference

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30 December 2019

Roberto Giorda

11

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30 December 2019

Orsetta Zuffardi

13

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30 December 2019

author name string

Tiziano Pramparo

1

1 reference

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30 December 2019

Giuliana Gregato

3

1 reference

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30 December 2019

Maria Grazia Patricelli

5

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30 December 2019

Roberto Ciccone

6

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30 December 2019

Susi Scappaticci

7

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30 December 2019

Gaetano Mannino

8

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30 December 2019

Claudio Lombardi

9

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30 December 2019

Barbara Pirola

10

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30 December 2019

publication date

1 September 2004

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European Journal of Human Genetics

30 December 2019

published in

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30 December 2019

volume

12

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30 December 2019

issue

9

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30 December 2019

page(s)

713-717

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201240

30 December 2019

exact match

0 references

cites work

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

The first three mosaic cri du chat syndrome patients with two rearranged cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Molecular and cytogenetic characterization of 9p- abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Confined placental mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

18q- and 18q+ mosaicism in a mentally retarded boy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

7 January 2021

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

7 January 2021

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

7 January 2021

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

7 January 2021

Mechanisms leading to uniparental disomy and their clinical consequences

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

7 January 2021

Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

7 January 2021

Prenatal diagnosis of a case of 46,XY,18p-/46,XY,18p+ mosaicism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

7 January 2021

A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201240

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201240

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15266302%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

30 December 2019

1032692531

0 references

1 reference