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Items: 1 to 20 of 1217

1.
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu’Lock, Helen Firth, Andrew Gennery, Anthony Holland, Claire Illingworth, Nigel Mercer, Merel Pannebakker, Andrew Parry, Anne Roberts, Beverly Tsai-Goodman
Eur J Pediatr. 2014; 173(6): 757–765. Published online 2014 Jan 3. doi: 10.1007/s00431-013-2240-z
PMCID:
PMC4032642
ArticlePDF–460K
2.
Microphthalmia and orbital cysts in DiGeorge syndrome
Arthika Chandramohan, Connie Martin Sears, Laura C. Huang, Shannon Beres, Douglas Fredrick, Andrea Lora Kossler
J AAPOS. Author manuscript; available in PMC 2024 Feb 4.
Published in final edited form as: J AAPOS. 2021 Dec; 25(6): 358–360. Published online 2021 Sep 29. doi: 10.1016/j.jaapos.2021.06.001
PMCID:
PMC10838402
ArticlePDF–214K
3.
Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease – case report and literature review
Aleksandra Janina Wylazłowska, Małgorzata Grabarczyk, Marta Gorczyca, Paweł Matusik
Pediatr Endocrinol Diabetes Metab. 2023 Dec; 29(4): 259–266. Published online 2024 Jan 11. doi: 10.5114/pedm.2023.132030
PMCID:
PMC10826693
ArticlePDF–680K
4.
Comparison of Elicitation Approaches in Early Stage HTA Applied on Artificial Thymus for Patients with DiGeorge Syndrome
Marija Gorelova, Karolina Rysankova, Gleb Donin, Peter Kneppo, Vladimir Rogalewicz
Healthcare (Basel) 2023 Nov; 11(22): 3002. Published online 2023 Nov 20. doi: 10.3390/healthcare11223002
PMCID:
PMC10671534
ArticlePDF–1019K
5.
Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome
Chun-Ho Chan, Yin-Yu Lam, Nicodemus Wong, Lin Geng, Jilin Zhang, Virpi Ahola, Aman Zare, Ronald Adolphus Li, Fredrik Lanner, Wendy Keung, Yiu-Fai Cheung
Commun Biol. 2023; 6: 969. Published online 2023 Sep 22. doi: 10.1038/s42003-023-05344-6
PMCID:
PMC10516936
ArticlePDF–3.8M
6.
DiGeorge syndrome critical region gene 2 (DGCR2), a schizophrenia risk gene, regulates dendritic spine development through cell adhesion
Dongyan Ren, Bin Luo, Peng Chen, Lulu Yu, Mingtao Xiong, Zhiqiang Fu, Tian Zhou, Wen-Bing Chen, Erkang Fei
Cell Biosci. 2023; 13: 134. Published online 2023 Jul 21. doi: 10.1186/s13578-023-01081-9
PMCID:
PMC10362570
ArticlePDF–5.2M
7.
DiGeorge Syndrome With Absence of Speech: A Rare Case
Srilakshmi K Jayaprakasan, Maymona E Nageye, Alveena Siddiqui, Gabriela Suero, Jorge Pimentel Campillo, Shaniah S Holder
Cureus. 2023 Apr; 15(4): e37745. Published online 2023 Apr 18. doi: 10.7759/cureus.37745
PMCID:
PMC10193178
ArticlePDF–102K
8.
Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management
Sarah E. Biggs, Bailee Gilchrist, Kathleen R. May
Curr Allergy Asthma Rep. 2023; 23(4): 213–222. Published online 2023 Mar 10. doi: 10.1007/s11882-023-01071-4
PMCID:
PMC9999075
ArticlePDF–837K
9.
Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome
Michela Menghi, Ginevra Micangeli, Francesca Tarani, Carolina Putotto, Federica Pirro, Alessandro Mariani, Carla Petrella, Federica Pulvirenti, Bianca Cinicola, Fiorenza Colloridi, Luigi Tarani, Marco Fiore
Int J Mol Sci. 2023 Feb; 24(4): 4242. Published online 2023 Feb 20. doi: 10.3390/ijms24044242
PMCID:
PMC9965448
ArticlePDF–1.6M
10.
Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features
Hao Gu, Wenjun Mou, Zhenping Chen, Xingjuan Xie, Jiafeng Yao, Rui Zhang, Runhui Wu, Jingang Gui
Front Pediatr. 2022; 10: 1014249. Published online 2023 Jan 18. doi: 10.3389/fped.2022.1014249
PMCID:
PMC9889826
ArticlePDF–1.9M
11.
Fever of Unknown Origin Reveals a Missed Diagnosis of DiGeorge Syndrome in a 21-Year-Old Female
Nicole L Welch, Ashley Selman, Busara Songtanin, James A Tarbox
Cureus. 2022 Dec; 14(12): e32355. Published online 2022 Dec 9. doi: 10.7759/cureus.32355
PMCID:
PMC9827890
ArticlePDF–100K
12.
Safety of Live Immunization in DiGeorge Syndrome: A Retrospective Single-Center Study in Korea, 2005–2021
Sung Min Lim, Je Hee Shin, Jee Yeon Baek, Ji Young Lee, Ji-Man Kang, Jong Gyun Ahn
Vaccines (Basel) 2022 Dec; 10(12): 2165. Published online 2022 Dec 16. doi: 10.3390/vaccines10122165
PMCID:
PMC9781824
ArticlePDF–912K
13.
Psychiatric Comorbidities in Adults with DiGeorge Syndrome
Hiren Patel, Ramu Vadukapuram, Zeeshan Mansuri, Chintan Trivedi, Kanwarjeet Singh Brar, Uzma Beg, Jigar Patel, Aalamgeer Ibrahim, Muhammad Khalid Zafar
Clin Psychopharmacol Neurosci. 2022 Aug 31; 20(3): 498–503. Published online 2022 Aug 31. doi: 10.9758/cpn.2022.20.3.498
PMCID:
PMC9329110
ArticlePDF–261K
14.
Infectious Complications of DiGeorge Syndrome in the Setting of Malignancy
Heather Hare, Pragya Tiwari, Aliyah Baluch, John Greene
Cureus. 2022 Jun; 14(6): e26277. Published online 2022 Jun 24. doi: 10.7759/cureus.26277
PMCID:
PMC9308940
ArticlePDF–272K
15.
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome
Noriko Funato
J Dev Biol. 2022 Jun; 10(2): 18. Published online 2022 May 13. doi: 10.3390/jdb10020018
PMCID:
PMC9149807
ArticlePDF–1.4M
16.
A Prospective Study of Influenza Vaccination and a Comparison of Immunologic Parameters in Children and Adults with Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
Abbas F. Jawad, Eline Luning Prak, Jean Boyer, Donna M. McDonald-McGinn, Elaine Zackai, Kenyetta McDonald, Kathleen E. Sullivan
J Clin Immunol. Author manuscript; available in PMC 2022 Apr 14.
Published in final edited form as: J Clin Immunol. 2011 Dec; 31(6): 927–935. Published online 2011 Aug 24. doi: 10.1007/s10875-011-9569-8
PMCID:
PMC9009240
ArticlePDF–940K
17.
DiGeorge syndrome: consider the diagnosis
Ellery Altshuler, Arwa Saidi, Jeffrey Budd
BMJ Case Rep. 2022; 15(2): e245164. Published online 2022 Feb 2. doi: 10.1136/bcr-2021-245164
PMCID:
PMC8811567
ArticlePDF–270K
18.
Autoimmune hemolytic anemia associated with vitamin B12 deficiency and viral illness in DiGeorge syndrome. Case report and literature review
Zohaib Yousaf, Fateen Ata, Phool Iqbal, Bassam Muthanna, Adeel Ahmad Khan, Jaweria Akram, Anand Kartha
Clin Case Rep. 2021 Jun; 9(6): e04308. Published online 2021 Jun 10. doi: 10.1002/ccr3.4308
PMCID:
PMC8190680
ArticlePDF–224K
19.
The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report
Estephania Candelo, Maria Alejandra Estrada-Mesa, Adriana Jaramillo, Carlos Humberto Martinez-Cajas, Julio Cesar Osorio, Harry Pachajoa
Appl Clin Genet. 2021; 14: 267–277. Published online 2021 Jun 1. doi: 10.2147/TACG.S280066
PMCID:
PMC8179788
ArticlePDF–959K
20.
Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood—a case report
Khuraman Isgandarova, Stephan Molatta, Philipp Sommer
Eur Heart J Case Rep. 2021 May; 5(5): ytab166. Published online 2021 May 12. doi: 10.1093/ehjcr/ytab166
PMCID:
PMC8117462
ArticlePDF–996K

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