(Q34450526)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

X-linked recessive chondrodysplasia punctata

8 November 2019

main subject

0 references

author

Brunella Franco

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Nicola Brunetti-Pierri

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Andrea Ballabio

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

G Parenti

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

P Buttitta

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

G Meroni

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

L Bernard

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M G Rizzolo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

G Andria

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

publication date

1 December 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

8 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

139-143

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

Chondrodysplasia punctata with X;Y translocation

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata ? a complementation study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

Chondrodysplasia punctata: another possible X-linked recessive case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819971212%2973%3A2%3C139%3A%3AAID-AJMG7%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19971212)73:2<139::AID-AJMG7>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9409863%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference