(Q41904758)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

title

Noonan's and DiGeorge syndromes with monosomy 22q11 (English)

1 reference

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13 October 2019

7

1 reference

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13 October 2019

author name string

D I Wilson

1

1 reference

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13 October 2019

S B Britton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

C McKeown

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

D Kelly

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

I E Cross

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

S Strobel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

language of work or name

English

0 references

publication date

1 February 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

Archives of Disease in Childhood

13 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

volume

68

1 reference

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13 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

page(s)

187-189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

A case of Noonan's syndrome and hypoparathyroidism presenting with epilepsy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

Noonan syndrome: a review

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

Noonan's syndrome and its cardiovascular dysplasia. Apropos of 64 cases

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

A clinical study of Noonan syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

The spectrum of the DiGeorge syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1029231

Partial deficiency of coagulation factor XI as a newly recognized feature of Noonan syndrome

5 June 2018

1 reference

12 December 2020

1 reference

12 December 2020

Noonan and Klinefelter syndromes in a child

1 reference

12 December 2020

Noonan syndrome: partial factor XI deficiency

1 reference

12 December 2020

Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.68.2.187

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8481040%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

PubMed publication ID

8481040

1 reference