(Q71050039)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

title

Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference

F Greig

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

E Paul

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

J DiMartino-Nardi

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

P Saenger

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

language of work or name

English

0 references

publication date

1 April 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

15 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

volume

128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

page(s)

563-567

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

Human neonatal hypocalcemia

15 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Transient congenital hypoparathyroidism: how transient is it?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

“Transient” congenital hypoparathyroidism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Overt hypoparathyroidism developing after recovery from transient congenital hypoparathyroidism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Partial hypoparathyroidism. A variant of transient congenital hypoparathyroidism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

The spectrum of the DiGeorge syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

DiGeorge syndrome: part of CATCH 22.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Velo-cardio-facial syndrome: a review of 120 patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Deletions within chromosome 22q11 in familial congenital heart disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Parathyroid function tests with EDTA infusions in infancy and childhood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2896%2970372-4

10.1016/S0022-3476(96)70372-4

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8618195%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference