PRENATAL DIAGNOSIS OF THE 22q11 DELETION SYNDROME

Prenatal Diagnosis ◽

10.1002/(sici)1097-0223(199704)17:4<380::aid-pd61>3.0.co;2-j ◽

1997 ◽

Vol 17 (4) ◽

pp. 380-383 ◽

Author(s):

ALEXANDER DAVIDSON ◽

MEENA KHANDELWAL ◽

HOPE H. PUNNETT

Keyword(s):

Prenatal Diagnosis ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome

Download Full-text

EXTENSIVE IMMUNOPHENOTYPING IN 22q11 DELETION SYNDROME: DOES B AND T CELLS INFLUENCE CLINICAL HISTORY?

10.26226/morressier.57bc1757d462b80290b4cf0e ◽

2016 ◽

Author(s):

Francesco Licciardi

Keyword(s):

T Cells ◽

Clinical History ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome

Download Full-text

Faculty Opinions recommendation of The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1089068.542893 ◽

2007 ◽

Author(s):

Sissy Jhiang

Keyword(s):

Candidate Gene ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome

Download Full-text

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

International Journal of Cardiology Congenital Heart Disease ◽

10.1016/j.ijcchd.2020.100047 ◽

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

Download Full-text

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

Journal of Clinical Immunology ◽

10.1007/s10875-014-0002-y ◽

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

Download Full-text

22q11 Deletion Syndrome and Multiple Complex Developmental Disorder: A Case Report

Journal of Clinical Medicine Research ◽

10.4021/jocmr1222w ◽

2013 ◽

Author(s):

Scandurra

Keyword(s):

Case Report ◽

Developmental Disorder ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome ◽

Multiple Complex Developmental Disorder ◽

Complex Developmental Disorder

Download Full-text

235 – Cortical thickness in 22q11 deletion syndrome: Alterations in affected children and evolution into adulthood

Schizophrenia Research ◽

10.1016/j.schres.2007.12.302 ◽

2008 ◽

Vol 98 ◽

pp. 130

Author(s):

M. Schaer ◽

M. Debbané ◽

M. Bach Cuadra ◽

B. Glaser ◽

S. Eliez

Keyword(s):

Cortical Thickness ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome

Download Full-text

Teaching NeuroImages: Abnormal cervical and cerebral vasculature in 22q11 deletion syndrome

Neurology ◽

10.1212/wnl.0000000000004065 ◽

2017 ◽

Vol 89 (1) ◽

pp. e6-e6

Author(s):

Divakar S. Mithal ◽

Jonathan E. Kurz

Keyword(s):

Deletion Syndrome ◽

22Q11 Deletion ◽

Cerebral Vasculature ◽

22Q11 Deletion Syndrome

Download Full-text

22q11 deletion syndrome: a genetic subtype of schizophrenia

Biological Psychiatry ◽

10.1016/s0006-3223(99)00114-6 ◽

1999 ◽

Vol 46 (7) ◽

pp. 882-891 ◽

Author(s):

Anne S Bassett ◽

Eva W.C Chow

Keyword(s):

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome ◽

Genetic Subtype

Download Full-text

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

PLoS ONE ◽

10.1371/journal.pone.0033473 ◽

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

Download Full-text

G27(P) 22Q11 deletion syndrome – improving initial investigations at a tertiary cardiac centre

10.1136/archdischild-2020-rcpch.16 ◽

2020 ◽

Author(s):

I Sohal ◽

AJ Pearce ◽

M Harris

Keyword(s):

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome ◽

Download Full-text