(Q71080041)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7332029%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Malformation syndrome of duplication 12q24.1 leads to qter (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7332029%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Malformation syndrome of duplication 12q24.1→qter (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

9 May 2024

main subject

malformation syndrome

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7332029

9 May 2024

author name string

A. R. Melnyk

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7332029

9 May 2024

L. Weiss

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7332029

9 May 2024

D. L. Van Dyke

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7332029

9 May 2024

P. Jarvi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7332029

9 May 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7332029

9 May 2024

publication date

1 January 1981

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7332029%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

16 October 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320100408

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.1320100408

9 May 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

American Journal of Medical Genetics Part A

9 May 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7332029%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7332029%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7332029%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

page(s)

357-365

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7332029%20AND%20SRC:MED&resulttype=core&format=json

Partial trisomy 12p due to t(12;21)pat translocation

16 October 2019

cites work

3

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring

9 May 2024

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

9 May 2024

12P trisomy: a syndrome?

6

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

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

9 May 2024

7

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

Partial trisomy 12q associated with a familial translocation

9 May 2024

9

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

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

9 May 2024

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

Systematic analysis of 95 reciprocal translocations of autosomes

9 May 2024

14

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

Meiosis in two human reciprocal translocations

9 May 2024

17

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

Cytogenetics and infertility in man. I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic

9 May 2024

18

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

Cytogenetics and infertility in man. II. Testicular histology and meiosis

9 May 2024

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

Meiotic behavior of five human reciprocal translocations

9 May 2024

20

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring

9 May 2024

21

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320100408

9 May 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7332029%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference