(Q41965319)

English

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency

scientific article published on November 1, 1991

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

14 October 2017

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency (English)

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

chondrodysplasia punctata

1 reference

based on heuristic

inferred from title

X-linked ichthyosis

1 reference

based on heuristic

inferred from title

chromosomal deletion syndrome

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1785631

22 November 2022

author name string

Ballabio A

1

1 reference

Europe PubMed Central

14 October 2017

Zollo M

2

1 reference

Europe PubMed Central

14 October 2017

Carrozzo R

3

1 reference

Europe PubMed Central

14 October 2017

Caiulo A

4

1 reference

Europe PubMed Central

14 October 2017

Zuffardi O

5

1 reference

Europe PubMed Central

14 October 2017

Cascioli CF

6

1 reference

Europe PubMed Central

14 October 2017

Viggiano D

7

1 reference

Europe PubMed Central

14 October 2017

Strisciuglio P

8

1 reference

Europe PubMed Central

14 October 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 November 1991

1 reference

Europe PubMed Central

14 October 2017

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320410210

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320410210

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

14 October 2017

41

1 reference

Europe PubMed Central

14 October 2017

184-187

1 reference

Europe PubMed Central

14 October 2017

2

1 reference

Europe PubMed Central

14 October 2017

Chondrodysplasia punctata with X;Y translocation

1

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

3

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

4

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis

5

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

6

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

7

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

8

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

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

9

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

High resolution R- and G-banding on the same preparation

10

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

12

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

Contiguous gene syndromes: a component of recognizable syndromes

13

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

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

15

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

An unusual variant chromosome 9 with an extra C-negative, G-dark segment in the short arm.

16

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C

17

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

18

1 reference

10.1002/AJMG.1320410210

https://api.crossref.org/works/10.1002/AJMG.1320410210

22 November 2022

Identifiers

10.1002/AJMG.1320410210

1 reference

Europe PubMed Central

14 October 2017

1 reference

Europe PubMed Central

14 October 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q41965319&oldid=1777325405"