Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion (Q71050039)

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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

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F Greig

1

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15 October 2019

E Paul

series ordinal

2

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15 October 2019

J DiMartino-Nardi

series ordinal

3

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15 October 2019

P Saenger

series ordinal

4

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15 October 2019

language of work or name

English

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publication date

1 April 1996

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The Journal of Pediatrics

15 October 2019

published in

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15 October 2019

volume

128

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15 October 2019

issue

4

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15 October 2019

page(s)

563-567

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Human neonatal hypocalcemia

15 October 2019

cites work

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Transient congenital hypoparathyroidism: how transient is it?

7 January 2021

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7 January 2021

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Overt hypoparathyroidism developing after recovery from transient congenital hypoparathyroidism

7 January 2021

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Partial hypoparathyroidism. A variant of transient congenital hypoparathyroidism

7 January 2021

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7 January 2021

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7 January 2021

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Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Deletions within chromosome 22q11 in familial congenital heart disease

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Parathyroid function tests with EDTA infusions in infancy and childhood

7 January 2021

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

7 January 2021

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10.1016/S0022-3476(96)70372-4

7 January 2021

Identifiers

DOI

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

15 October 2019

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