(Q50105155)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

F Martínez

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

L Badía

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

J M Millán

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

M R Montero

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

J Andrés

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

F Prieto

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

publication date

1 September 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

206-211

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

Partial trisomy 14q due to familial t(14q-,11q+) translocation

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

Duplication of the distal segment of 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

Distal duplication 14q: report of three cases and further delineation of the syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

Genetic analysis using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

Paternal uniparental disomy for chromosome 14: a case report and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

Balanced and unbalanced pericentric inversion of a chromosome 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

7 January 2021

Familial pericentric inversion (14) (p11;q24) with a rec dup(q) in one offspring

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

7 January 2021

Distal trisomy 14q syndrome; a case report.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

7 January 2021

Trisomy 14 mosaicism in a 2 year old girl.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

7 January 2021

Partial trisomy of the distal segment 14q

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

7 January 2021

MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

7 January 2021

Familial translocation t(10;14) (q26.1;q32.3): report of three offspring with 10q deletion and 14q duplication.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

7 January 2021

Ultrasensitive staining of nucleic acids with silver

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

7 January 2021

Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600306.X

7 January 2021

10.1034/J.1399-0004.2001.600306.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11595022%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference