(Q33594521)

28 July 2017

1 reference

title

Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q (English)

1 reference

28 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1433229

26 September 2022

2

J. M. Hertz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1433229

26 September 2022

author name string

C. A. Brandt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1433229

26 September 2022

M. B. Petersen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1433229

26 September 2022

F. Vogel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1433229

26 September 2022

H. Noer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1433229

26 September 2022

M. Mikkelsen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1433229

26 September 2022

language of work or name

English

0 references

publication date

1 October 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1433229

https://europepmc.org/articles/PMC1016127?pdf=render

26 September 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%3A1433229

Journal of Medical Genetics

26 September 2022

published in

1 reference

28 July 2017

volume

29

1 reference

28 July 2017

issue

10

1 reference

28 July 2017

page(s)

704-708

1 reference

Study of two cases of ring 13 chromosome using high-resolution banding

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

The Dr phenotype: a study of threee cases with a ring D chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Malformative syndrome with ring 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=1016127

The behavior of ring 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=1016127

Reexamination of a family with a t(13q14q) and a ring D(13) child.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Clinical features in a case with ring 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=1016127

Tissue-specific mosaicism for the stability of a ring 13 chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

An improved method for labelling of DNA probes by nicktranslation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Retinoblastoma and the progression of tumor genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Dinucleotide repeat polymorphism at the D13S71 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Dinucleotide repeat polymorphism at the human fms-related tyrosine kinase gene (FLT1).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Ring chromosome 13 in a polymalformed anencephalic

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Ring 13 chromosome associated with microcephaly, congenital heart defect, intrauterine growth retardation, and abnormal skin pigmentation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

A case of D13 ring chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016127

Parental origin of a ring 13 chromosome in a female with multiple anomalies

21 June 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13

1 reference

12 December 2020

Ring chromosome D (13) associated with multiple congenital malformations

1 reference

12 December 2020

Two cases of ring chromosome 13. Chromosome banding patterns and mosaic configuration

1 reference

12 December 2020

Prophase analysis of ring chromosome 13--an attempt at phenotype-karyotype correlation

1 reference

12 December 2020

Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome

1 reference

12 December 2020

Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker

1 reference

12 December 2020

The ring chromosome 13 syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.29.10.704

1 reference

28 July 2017

1 reference

28 July 2017

1 reference