Goldenhar syndrome phenotypes and 22q11 deletion

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.33754 ◽

2011 ◽

Vol 155 (2) ◽

pp. 458-458 ◽

Author(s):

Sevim Balcı ◽

Özlem Engiz

Keyword(s):

Goldenhar Syndrome ◽

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Goldenhar Syndrome: A Cause of Hearing Loss and Other Defects in Children

Perspectives on Hearing and Hearing Disorders in Childhood ◽

10.1044/hhdc13.2.10 ◽

2003 ◽

Vol 13 (2) ◽

pp. 10-17

Author(s):

R. Steven Ackley ◽

Kerri McDill ◽

Elizabeth Hellmuth

Keyword(s):

Hearing Loss ◽

Goldenhar Syndrome

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Management of a Goldenhar Syndrome patient with a custom-made osteosynthesis mesh

European Journal of Oral and Maxillofacial Surgery ◽

10.23736/s2532-3466.19.00201-7 ◽

2020 ◽

Vol 4 (3) ◽

Author(s):

Carlo Tian ◽

Ingrid Tonni ◽

Umberto Zanetti ◽

Luca Visconti ◽

Francesco Daleffe ◽

...

Keyword(s):

Goldenhar Syndrome ◽

Syndrome Patient ◽

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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

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Faculty Opinions recommendation of Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.

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

10.3410/f.1030265.357524 ◽

2006 ◽

Author(s):

Peter Scambler

Keyword(s):

Mouse Model ◽

22Q11 Deletion ◽

Fgf8 Signaling ◽

Deletion Syndromes

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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

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Cortical dysgenesis in 2 patients with chromosome 22q11 deletion

Clinical Genetics ◽

10.1034/j.1399-0004.2000.580111.x ◽

2000 ◽

Vol 58 (1) ◽

pp. 64-68 ◽

Author(s):

Lynne M. Bird ◽

Peter Scambler

Keyword(s):

22Q11 Deletion ◽

Cortical Dysgenesis ◽

Chromosome 22Q11

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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

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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

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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

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Goldenhar Syndrome

Encyclopedia of Autism Spectrum Disorders ◽

10.1007/978-1-4614-6435-8_102078-1 ◽

2018 ◽

pp. 1-4

Author(s):

Carson Kautz

Keyword(s):

Goldenhar Syndrome

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