Deletion 14q and pericentric inversion 14 (Q33588131)

28 July 2017

Deletion 14q and pericentric inversion 14 (English)

1 reference

28 July 2017

human chromosomes 13-15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

chromosomal deletion syndrome

19 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

19 July 2022

chromosomal inversion

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

19 July 2022

author name string

Saldana-Garcia P

6

1 reference

28 July 2017

J. Nielsen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

19 July 2022

A. Homma

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

19 July 2022

K. Rasmussen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

19 July 2022

E. Ried

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

19 July 2022

K. Sorensen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

19 July 2022

P. Saldana-Garcia

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

19 July 2022

language of work or name

English

0 references

publication date

1 June 1978

1 reference

full work available at URL

28 July 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/671492/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/671492/pdf/?tool=EBI

19 July 2022

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

http://jmg.bmjjournals.com/cgi/content/abstract/15/3/236

19 July 2022

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

https://europepmc.org/articles/PMC1013686

19 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

https://europepmc.org/articles/PMC1013686?pdf=render

19 July 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A671492

Journal of Medical Genetics

19 July 2022

published in

1 reference

28 July 2017

15

1 reference

28 July 2017

3

1 reference

28 July 2017

236-238

1 reference

The 13q-deletion syndrome

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013686

Retinoblastoma and deletion D (14) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013686

The syndrome associated with the partial D-monosomy. Case report and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013686

Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013686

Retinoblastoma and D-chromosome deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013686

Pericentric inversion of a number 15 chromosome in nine members of one family.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013686

Deletion of long arms of chromosome 13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013686

Dermatoglyphic findings in 54 triple-X females and a review of some general principles applying to the soles in sex chromosome aneuploidy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013686

New Chromosomal Syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1013686

The distal triradius t on the hands of parents and sibs of mongol imbeciles

21 June 2018

1 reference

12 December 2020

Chromosome banding patterns in an infant with 13q minus syndrome

1 reference

12 December 2020

[Deletion of chromosome D (13q - ) in a child with psychomotor retardation]

1 reference

12 December 2020

[A new syndrome caused by deletion of a part of a chromosome (13 q-). Case descriptions and compilation of symptoms (author's transl)]

1 reference

12 December 2020

Duplication/deficiency product of a pericentric inversion in man: A cause of D1 trisomy syndrome

1 reference

12 December 2020

Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations

1 reference

12 December 2020

Elucidation of a pericentric inversion of a D-group chromosome in the mother of a child with Patau's syndrome

1 reference

12 December 2020

Dq-, multiple malformations and retinoblastoma

1 reference

12 December 2020

Pericentric inversion in a group D chromosome (13?15) associated with amenorrhea and gonadal dysgenesis

1 reference

12 December 2020

Identifiers

0 references

1 reference

28 July 2017

1 reference