(Q52126510)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746042%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

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

1 reference

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5 December 2019

1

1 reference

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5 December 2019

Elena Rossi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746042%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Sabrina Giglio

3

1 reference

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5 December 2019

author name string

A D'Agostino

4

1 reference

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5 December 2019

L Titomanlio

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746042%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

V Farina

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746042%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

G Andria

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746042%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

G Sebastio

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746042%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

publication date

1 November 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11746042%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

5 December 2019

published in

1 reference

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5 December 2019

volume

104

1 reference

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5 December 2019

issue

2

1 reference

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5 December 2019

page(s)

127-130

1 reference

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Partial trisomy 1(q42-->qter): a new case with a mild phenotype

5 December 2019

cites work

1 reference

Duplication of the distal part of the long arm of chromosome 1.

21 January 2018

1 reference

Dup(1q)(q42-->qter) syndrome: case report and review of literature

21 January 2018

1 reference

Duplication of part of chromosome 1q: clinical report and review of literature

21 January 2018

1 reference

Trisomy 1q42 --> qter in a sister and brother: further delineation of the "trisomy 1q42 --> qter syndrome".

21 January 2018

1 reference

Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation

21 January 2018

1 reference

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

21 January 2018

1 reference

The common features of patients with partial trisomy of the long arm of chromosome 1

21 January 2018

1 reference