(Q54439493)

29 May 2018

reason for preferred rank

title

Partial trisomy 1, karyotype 46,XY,12-,t(1q, 12p)+ (English)

1 reference

24 February 2023

Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+ (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4719634

24 February 2023

main subject

karyotype

0 references

human chromosomes 1-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4719634

24 February 2023

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4719634

24 February 2023

1 reference

24 February 2023

author name string

H. Van den Berghe

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4719634

24 February 2023

M. Van Eygen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4719634

24 February 2023

J. P. Fryns

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4719634

24 February 2023

W. Tanghe

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4719634

24 February 2023

H. Verresen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4719634

24 February 2023

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=4719634

24 February 2023

publication date

1 May 1973

1 reference

29 May 2018

25 May 1973

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=4719634

full work available at URL

24 February 2023

http://link.springer.com/content/pdf/10.1007/BF00290601.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00290601/fulltext.html

24 February 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00290601

24 February 2023

1 reference

24 February 2023

1 reference

29 May 2018

volume

18

1 reference

29 May 2018

page(s)

225-230

1 reference

29 May 2018

issue

3

1 reference

29 May 2018

RING-1 CHROMOSOME AND MICROCEPHALIC DWARFISM

cites work

1 reference

12 December 2020

Probable pericentric inversion in chromosome No. 1 in a female child (46,XX,inv(Ip+q-))

1 reference

12 December 2020

Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter

1 reference

12 December 2020

Somatic cell genetic assignment of peptidase C and the Rh linkage group to chromosome A-1 in man.

1 reference

12 December 2020

A large deletion of chromosome no. 1 (46,XY,1?--)

1 reference

12 December 2020

A 1/G translocation in a member of a kindred with a marker chromosome

1 reference

12 December 2020

Chromosomal study in patients with cysts of the jaw, multiple nevoid basal cell carcinomata and bifid rib syndrome

1 reference

12 December 2020

Chromoosome 1 abnormality in a child with multiple malformations

1 reference

12 December 2020

[Translocation of a part of chromosome 1 on chromosome 9-12 with a syndrome of congenital anomalies and mental deficiency]

1 reference

12 December 2020

Chromosome abnormalities in spontaneous abortion

1 reference

12 December 2020

[Sterility and familial t (1q-;Xq+) translocation]

1 reference

12 December 2020

A FAMILIAL CHROMOSOME VARIANT IN A SUBJECT WITH ANOMALOUS SEX DIFFERENTIATION

1 reference

12 December 2020

[Cytogenetic study of a mother and her son presenting the same ocular malformation]

1 reference

12 December 2020

[Frequency of chromosomal aberrations in spontaneous human abortions]

1 reference

12 December 2020

Probable assignment of the Duffy blood group locus to chromosome 1 in man

1 reference

12 December 2020

An interstitial translocation: chromosome no. 1p to 4q

1 reference

12 December 2020

Persistent truncus arteriosus; a classification according to anatomic types

1 reference

12 December 2020

[Apert's syndrome (acrocephalo-syndactyly). A case with 1 abnormal chromosome]

1 reference

12 December 2020

Chromosome studies in repeated spontaneous abortions and stillbirths.

1 reference

12 December 2020

46, XX, 1q-, 2q-, Dq+, 16q+ karyotype in a polymalformed child

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00290601

1 reference

29 May 2018

1 reference

29 May 2018