(Q34634568)

3 August 2017

title

Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography (English)

1 reference

3 August 2017

main subject

human chromosomes 16-18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646556

16 February 2023

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646556

16 February 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.9.4.462

16 February 2023

author name string

H. Müller

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646556

16 February 2023

E. M. Bühler

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646556

16 February 2023

E. Signer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646556

16 February 2023

F. Egli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646556

16 February 2023

G. R. Stalder

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646556

16 February 2023

language of work or name

English

0 references

publication date

1 December 1972

1 reference

full work available at URL

3 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4646556/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646556

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4646556/pdf/?tool=EBI

16 February 2023

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%3A4646556

https://europepmc.org/articles/PMC1469081

16 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4646556

https://europepmc.org/articles/PMC1469081?pdf=render

16 February 2023

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%3A4646556

https://syndication.highwire.org/content/doi/10.1136/jmg.9.4.462

16 February 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.9.4.462

Journal of Medical Genetics

16 February 2023

published in

1 reference

3 August 2017

volume

9

1 reference

3 August 2017

issue

4

1 reference

3 August 2017

page(s)

462-467

1 reference

A Correlation of Ring-Shaped Chromosomes with Variegation in Zea Mays

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

17-18 TRISOMY SYNDROME; REVIEW AND REPORT OF A CASE.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

The relationship between congenital anomalies and autosomal chromosome abnormalities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

Dermal patterns of 18 and D1 trisomics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

Trisomy-17 syndrome. Report of three cases and review of the literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

7 July 2018

A new trisomic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

Malformations of the central nervous system in trisomy 18 syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

An extra small metacentric chromosome in a mentally retarded boy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

Brain malformations in the trisomy 18 syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

Histologic Structural Anomalies in the Brain in Trisomy 18 Syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

A pedigree of 4/18 translocation chromosomes with type and countertype partial trisomy and partal monosomy for chromosome 18.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

Gene deletion and duplication effects on phenotype and gamma globulin levels

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

MULTIPLE CONGENITAL ANOMALIES IN THE E1-TRISOMY (GROUP 16-18) SYNDROME

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

The E syndrome (trisomy 17-18) resulting from a maternal chromosomal translocation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469081

26 October 2018

PHOCOMELIA AND TRISOMY E

1 reference

12 December 2020

THE MALFORMATIVE SYNDROME OF CHROMOSOME 18 TRISOMY

1 reference

12 December 2020

[On a case of 17 trisomy.]

1 reference

12 December 2020

A DEFECTIVE EXTRA CHROMOSOME ASSOCIATED WITH CLINICAL 17-18 TRISOMY SYNDROME

1 reference

12 December 2020

TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES

1 reference

12 December 2020

CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). 3. FREQUENCY OF INTERCHANGE OF TRISOMICS AND MUTATION RATE OF CHROMOSOME INTERCHANGES

1 reference

12 December 2020

The 18-trisomy syndrome-a spectrum?

1 reference

12 December 2020

A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome

1 reference

12 December 2020

The 16-18 trisomy syndrome

1 reference

12 December 2020

A CASE OF TRISOMY 16-18 SYNDROME. SPECULATION ON PATHOGENESIS OF CHROMOSOME-INDUCED MALFORMATIONS

1 reference

12 December 2020

THE NO. 17-18 (E) TRISOMY SYNDROME. STUDIES ON CYTOGENETICS, DERMATOGLYPHICS, PATERNAL AGE, AND LINKAGE

1 reference

12 December 2020

Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis

1 reference

12 December 2020

Structural Abnormalities of the Y Chromosome in Man

1 reference

12 December 2020

The trisomy 17-18 syndrome. Roentgen features

1 reference

12 December 2020

Structural abnormalities of chromosome 18. II. Two familial translocations, B-18 and 16-18, ascertained through unbalanced forms

1 reference

12 December 2020

Monosomy 21 with mosaicism 45,XX,21--46,XX,21 pi

1 reference

12 December 2020

TRISOMY 18. 5 NEW CASES. REVIEW OF THE LITERATURE

1 reference

12 December 2020

The No. 18 trisomy syndrome

1 reference

12 December 2020

Unbalanced C-e translocation exhibiting some clinical features of trisomy E

1 reference

12 December 2020

Isochromosomes Arising from a Human ‘C’-Autosome

1 reference

12 December 2020

Report on trisomies 18 and a trisomy 18 mosaicism

1 reference

12 December 2020

THE PATHOLOGY OF 18 TRISOMY

1 reference

12 December 2020

Trisomy 18 (16-18) associated with congenital glaucoma and optic atrophy

1 reference

12 December 2020

Observations on the pathology of the trisomy 17-18 syndrome

1 reference

12 December 2020

[Partial trisomy 18 caused by insertion or translocation 4/18.]

1 reference

12 December 2020

MALFORMATIONS AND TRISOMY 17-18 IN A NEWBORN INFANT

1 reference

12 December 2020

The 18-trisomy syndrome-two new clinical variants. One with associated tracheoesophageal fistula and the other with probable familial occurrence

1 reference

12 December 2020

Trisomy 18 associated with a familial translocation t(Bq-; 18q+)

1 reference

12 December 2020

TRISOMY 18. REPORT OF A CASE AND DISCUSSION OF THE SYNDROME

1 reference

12 December 2020

TRISOMY 18 SYNDROME WITH ABSENT RADIUS, VARUS DEFORMITY OF HAND, AND RUDIMENTARY THUMB: REPORT OF A CASE

1 reference

12 December 2020

Trisomy 16-18 in the Bantu

1 reference

12 December 2020

A NEW TRISOMY-TRANSLOCATION CHROMOSOME (LONG-ARM E/E)

1 reference

12 December 2020

THE TRISOMY-18 SYNDROME. REPORT ON 3 CASES

1 reference

12 December 2020

Identifiers

0 references

1 reference

3 August 2017

1 reference