Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome

2014 ◽  
Author(s):  
Jenny Lingman Framme ◽  
Stephan Borte ◽  
Ulrika von Döbeln ◽  
Lennart Hammarström ◽  
Sólveig Óskarsdóttir
Keyword(s):  
Newborn Screening ◽  
Retrospective Analysis ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Clinical Phenotypes

scholarly journals Newborn screening programs: Should 22q11 deletion syndrome be added?

2010 ◽  
Vol 12 (3) ◽  
pp. 135-144 ◽  
Author(s):  
Abigail M Bales ◽  
Christina A Zaleski ◽  
Elizabeth W McPherson
Keyword(s):  
Newborn Screening ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome ◽  
Screening Programs

scholarly journals 19. The search for 22q11 deletion syndrome. Are we doing enough?

2021 ◽  
Vol 2 ◽  
pp. 100047
Author(s):  
Julia Jones ◽  
Chethan Ram Kasargod Prabakhar ◽  
Sayqa Arif ◽  
Sarah Bowater ◽  
Paul Clift ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome

scholarly journals Functional Gene-Expression Analysis Shows Involvement of Schizophrenia-Relevant Pathways in Patients with 22q11 Deletion Syndrome

PLoS ONE ◽  
2012 ◽  
Vol 7 (3) ◽  
pp. e33473 ◽  
Author(s):  
Nico J. M. van Beveren ◽  
Lianne C. Krab ◽  
Sigrid Swagemakers ◽  
Gabriella Buitendijk ◽  
Erik Boot ◽  
...  
Keyword(s):  
Gene Expression ◽  
Expression Analysis ◽  
Gene Expression Analysis ◽  
Functional Gene ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
22Q11 Deletion Syndrome
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