(Q82489492)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Tahsin Yakut

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Sara Sebnem Kilic

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Ergun Cil

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Esra Yapici

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Unal Egeli

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

publication date

4 February 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

Pediatric Surgery International

16 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

380-383

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16463032%20AND%20SRC:MED&resulttype=core&format=json

The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome)

16 January 2020

cites work

1 reference

12 December 2020

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

1 reference

12 December 2020

Structural airway anomalies in patients with DiGeorge syndrome: a current review

1 reference

12 December 2020

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

1 reference

12 December 2020

Transplantation of thymus tissue in complete DiGeorge syndrome

1 reference

12 December 2020

A deletion in chromosome 22 can cause DiGeorge syndrome

1 reference

12 December 2020

Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears

1 reference

12 December 2020

Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome

1 reference

12 December 2020

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

1 reference

12 December 2020

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

1 reference

12 December 2020

DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.

1 reference

12 December 2020

Towards earlier diagnosis of 22q11 deletions

1 reference

12 December 2020

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

1 reference

12 December 2020

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes

1 reference

12 December 2020

The velo-cardio-facial syndrome: a clinical and genetic analysis

1 reference

12 December 2020

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

1 reference

12 December 2020

Complete DiGeorge syndrome: persistence of profound immunodeficiency

1 reference

12 December 2020

Hypoparathyroidism and 22q11 deletion syndrome

1 reference

12 December 2020

Complete-type DiGeorge syndrome treated by bone marrow transplantation

1 reference

12 December 2020