Have a personal or library account? Click to login
Open Access
|Oct 2024

References

  1. Kraus, C., Vanicek, T., Weidenauer, A., Khanaqa, T., Stamenkovic, M., Lanzenberger, R., Willeit, M., & Kasper, S. (2018). DiGeorge syndrome: Relevance of psychiatric symptoms in undiagnosed adult patients. Wiener klinische Wochenschrift, 130(7-8), 283–287. DOI: 10.1007/s00508-018-1335-y.
  2. Isgandarova, K., Molatta, S., & Sommer, P. (2021). Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood-a case report. European heart journal. Case reports, 5(5), ytab166. DOI: 10.1093/ehjcr/ytab166.
  3. Alghamdi, M., Al Khalifah, R., Al Homyani, D. K., Alkhamis, W. H., Arold, S. T., Ekhzaimy, A., El-Wetidy, M., Kashour, T., & Halwani, R. (2019). A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness. Journal of the Endocrine Society, 4(2), bvz028. DOI: 10.1210/jendso/bvz028.
  4. Seroogy, C. (2021) DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogensis. UpToDate. https://www.uptodate.com/contents/digeorge-22q11-2-deletion-syndrome-epidemiology-and-pathogenesis
  5. Cioffi, S., Martucciello, S., Fulcoli, F. G., Bilio, M., Ferrentino, R., Nusco, E., & Illingworth, E. (2014). Tbx1 regulates brain vascularization. Human molecular genetics, 23(1), 78–89. DOI: 10.1093/hmg/ddt400.
  6. Kurtovic-Kozaric, A., Mehinovic, L., Stomornjak-Vukadin, M., Kurtovic-Basic, I., Catibusic, F., Kozaric, M., Mesihovic-Dinarevic, S., Hasanhodzic, M., & Glamuzina, D. (2016). Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country. Bosnian journal of basic medical sciences, 16(2), 121–125 DOI: 10.17305/bjbms.2016.994.
  7. Pietryga, M., Toboła, K. (2017). Ultrasonograficzna diagnostyka prenatalna- możliwości technik 3D. Tom 2, nr 4, strony 143-154 https://journals.viamedica.pl/ginekologia_perinatologia_prakt/article/view/55879 [Prenatal ultrasound diagnostics - possibilities of 3D techniques. Volume 2, No. 4, pages 143-154]
  8. Khan, A. A., AbuAlrob, H., Punthakee, Z., Shrayyef, M., Werfalli, R. E., Kassem, H. A., Braga, M., Millar, A., Hussain, S., Iqbal, S., Khan, T., Paul, T., Van Uum, S., & Young, J. (2021). Canadian national hypoparathyroidism registry: an overview of hypoparathyroidism in Canada. Endocrine, 72(2), 553–561. DOI: 10.1007/s12020-021-02629-w.
  9. Giardino, G., Radwan, N., Koletsi, P., Morrogh, D. M., Adams, S., Ip, W., Worth, A., Jones, A., Meyer-Parsonson, I., Gaspar, H. B., Gilmour, K., Davies, E. G., & Ladomenou, F. (2019). Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center. Blood, 133(24), 2586–2596. DOI: 10.1182/blood.2018885244.
  10. Davies, E. G., Cheung, M., Gilmour, K., Maimaris, J., Curry, J., Furmanski, A., Sebire, N., Halliday, N., Mengrelis, K., Adams, S., Bernatoniene, J., Bremner, R., Browning, M., Devlin, B., Erichsen, H. C., Gaspar, H. B., Hutchison, L., Ip, W., Ifversen, M., Leahy, T. R., … Thrasher, A. J. (2017). Thymus transplantation for complete DiGeorge syndrome: European experience. The Journal of allergy and clinical immunology, 140(6), 1660–1670.e16. DOI: 10.1016/j.jaci.2017.03.020.
  11. Butts S. C. (2009). The facial phenotype of the velo-cardio-facial syndrome. International journal of pediatric otorhinolaryngology, 73(3), 343–350. doi: 10.1016/j.ijporl.2008.10.011
  12. Goldmuntz E. (2005). DiGeorge syndrome: new insights. Clinics in perinatology, 32(4), 963–x. DOI: 10.1016/j.clp.2005.09.006.
  13. Tarquinio, D. C., Jones, M. C., Jones, K. L., & Bird, L. M. (2012). Growth charts for 22q11 deletion syndrome. American journal of medical genetics. Part A, 158A(11), 2672–2681. DOI: 10.1002/ajmg.a.35485.
  14. Swillen, A., & McDonald-McGinn, D. (2015). Developmental trajectories in 22q11.2 deletion. American journal of medical genetics. Part C, Seminars in medical genetics, 169(2), 172–181. DOI: 10.1002/ajmg.c.31435.
  15. Shaw N. J. (2015). A Practical Approach to Hypocalcaemia in Children. Endocrine development, 28, 84–100. DOI: 10.1159/000380997.
  16. Kirschner, R. E., & Baylis, A. L. (2014). Surgical considerations in 22Q11.2 deletion syndrome. Clinics in plastic surgery, 41(2), 271–282. DOI: 10.1016/j.cps.2013.12.002
  17. Kreins, A. Y., & Graham Davies, E. (2020). Replacing defective thymus function. Current opinion in allergy and clinical immunology, 20(6), 541–548. DOI: 10.1097/ACI.0000000000000695.
  18. Yeoh, T. Y., Scavonetto, F., Hamlin, R. J., Burkhart, H. M., Sprung, J., & Weingarten, T. N. (2014). Perioperative management of patients with DiGeorge syndrome undergoing cardiac surgery. Journal of cardiothoracic and vascular anesthesia, 28(4), 983–989. DOI: 10.1053/j.jvca.2013.10.025.
DOI: https://doi.org/10.2478/phr-2023-0023 | Journal eISSN: 2084-0535 | Journal ISSN: 1734-7009
Language: English
Page range: 73 - 82
Submitted on: Oct 12, 2023
Accepted on: Oct 27, 2023
Published on: Oct 12, 2024
Published by: Polish Hyperbaric Medicine and Technology Society
In partnership with: Paradigm Publishing Services
Publication frequency: 4 times per year

© 2024 Wiktoria Czuj, published by Polish Hyperbaric Medicine and Technology Society
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.