(Q52069053)

21 April 2018

title

Chondrodysplasia punctata with X;Y translocation (English)

1 reference

chondrodysplasia punctata

9 January 2023

main subject

1 reference

chromosomal translocation

inferred from title

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3417299

9 January 2023

1 reference

9 January 2023

author name string

K. Agematsu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3417299

9 January 2023

K. Koike

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3417299

9 January 2023

H. Morosawa

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3417299

9 January 2023

Y. Nakahori

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3417299

9 January 2023

Y. Nakagome

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3417299

9 January 2023

T. Akabane

6

1 reference

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9 January 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=3417299

9 January 2023

publication date

1 September 1988

1 reference

21 April 2018

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00451470.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00451470/fulltext.html

9 January 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00451470

9 January 2023

1 reference

9 January 2023

1 reference

21 April 2018

volume

80

1 reference

21 April 2018

page(s)

105-107

1 reference

21 April 2018

issue

1

1 reference

21 April 2018

https://scigraph.springernature.com/pub.10.1007/bf00451470

exact match

0 references

cites work

Heterogeneity of Chondrodysplasia punctata

1 reference

12 December 2020

Chondrodysplasia punctata-23 cases of a mild and relatively common variety

1 reference

12 December 2020

Y to X translocation in man

1 reference

12 December 2020

Y-to-X chromosome translocation observed in two generations.

1 reference

12 December 2020

Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation.

1 reference

12 December 2020

Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants

1 reference

12 December 2020

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

1 reference

12 December 2020

Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers

1 reference

12 December 2020

Clinical and genetic aspects of Conradi-Hünermann disease. A report of three familial cases and review of the literature

1 reference

12 December 2020

Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.

1 reference

12 December 2020

A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation.

1 reference

12 December 2020

Homologous genes for X-linked chondrodysplasia punctata in man and mouse

1 reference

12 December 2020

Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata

1 reference

12 December 2020

A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides

1 reference

12 December 2020

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation

1 reference

12 December 2020

Subglottic pseudotumor, laryngeal dysplasia, and chondrodysplasia calcificans congenita with a t(D;B) chromosomal translocation

1 reference

12 December 2020

Trisomy 9 mosaicism with punctate mineralization in developing cartilages

1 reference

12 December 2020

Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00451470

1 reference

21 April 2018

1 reference

21 April 2018