(Q52098010)

22 April 2018

review article

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20330

title

Costello syndrome and neurological abnormalities (English)

1 reference

30 March 2024

1 reference

nervous system malformations

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14608654

30 March 2024

skin abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14608654

30 March 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20330

30 March 2024

author

Jean-François Chateil

2

object named as

Jean-François Chateil

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14608654

30 March 2024

author name string

Marie-Ange Delrue

1

1 reference

22 April 2018

Benoit Arveiler

3

1 reference

22 April 2018

Didier Lacombe

4

1 reference

22 April 2018

language of work or name

English

0 references

publication date

1 December 2003

1 reference

22 April 2018

15 December 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14608654

full work available at URL

30 March 2024

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.20330

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14608654

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.20330

30 March 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20330

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.20330

30 March 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.20330

American Journal of Medical Genetics

30 March 2024

published in

1 reference

22 April 2018

volume

123A

1 reference

22 April 2018

page(s)

301-305

1 reference

22 April 2018

issue

3

1 reference

22 April 2018

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.

cites work

https://api.crossref.org/works/10.1002/AJMG.A.20330

2

1 reference

30 March 2024

A NEW SYNDROME

https://api.crossref.org/works/10.1002/AJMG.A.20330

3

1 reference

A new syndrome: mental subnormality and nasal papillomata

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

4

1 reference

Costello syndrome: natural history and differential diagnosis of cutis laxa

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

5

1 reference

30 March 2024

Costello syndrome

https://api.crossref.org/works/10.1002/AJMG.A.20330

6

1 reference

Report on two patients with Costello syndrome and sialuria

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

7

1 reference

Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

11

1 reference

Life-threatening cardiac involvement throughout life in a case of Costello syndrome

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

13

1 reference

Second case of bladder carcinoma in a patient with Costello syndrome

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

14

1 reference

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

15

1 reference

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

16

1 reference

Further delineation of the behavioral and neurologic features in Costello syndrome.

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

17

1 reference

Costello syndrome: two cases with embryonal rhabdomyosarcoma

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

18

1 reference

Further delineation of cardiac abnormalities in Costello syndrome

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

19

1 reference

Delineation of the Costello syndrome

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

20

1 reference

Costello syndrome: a cancer predisposing syndrome?

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

21

1 reference

A Japanese patient with the Costello syndrome.

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

22

1 reference

Costello syndrome in two Brazilian children

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

24

1 reference

30 March 2024

The Costello syndrome

https://api.crossref.org/works/10.1002/AJMG.A.20330

25

1 reference

Costello syndrome with acoustic neuroma and cataract. Is the Costello locus linked to neurofibromatosis type 2 on 22q?

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

26

1 reference

Further delineation of Costello syndrome

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

28

1 reference

Costello syndrome: the natural history of a true postnatal growth retardation syndrome

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

29

1 reference

Costello syndrome: report and review.

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

30

1 reference

Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20330

31

1 reference

30 March 2024

Identifiers

DOI

10.1002/AJMG.A.20330

1 reference

22 April 2018

1 reference

22 April 2018