(Q33670243)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

author name string

N R Pratt

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

D T Bulugahapitiya

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

language of work or name

English

0 references

publication date

1 April 1983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

20 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

86-89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

Partial trisomy 12q: report of a case and review

20 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049004

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049004

Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049004

Systematic analysis of 95 reciprocal translocations of autosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049004

Confirmation of the assignment of the gene for galactose-1-phosphate uridylyltransferase (E.C. 2.7.7.12) to human chromosome 9

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049004

Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049004

Rare translocation 47,XY,t(12;21) in Down's syndrome

21 June 2018

1 reference

12 December 2020

Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies

1 reference

12 December 2020

Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)

1 reference

12 December 2020

A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat

1 reference

12 December 2020

Cytogenetic study of a recent case of trisomy 12p

1 reference

12 December 2020

Partial trisomy 12q associated with a familial translocation

1 reference

12 December 2020

Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing

1 reference

12 December 2020

Duplication 12q mosaicism in two unrelated patients with a similar syndrome

1 reference

12 December 2020

Partial distal 12q trisomy

1 reference

12 December 2020

Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12

1 reference

12 December 2020

Malformation syndrome of duplication 12q24.1→qter

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.20.2.86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6842562%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PubMed publication ID

6842562

1 reference