Page 80 - Read Online

Page 287 Jyonouchi. J Transl Genet Genom 2023;7:274-90 https://dx.doi.org/10.20517/jtgg.2023.32

14. Menghi M, Micangeli G, Tarani F, et al. Neuroinflammation and oxidative stress in individuals affected by digeorge syndrome. Int J
Mol Sci 2023;24:4242. DOI PubMed PMC
15. Fiksinski AM, Schneider M, Zinkstok J, Baribeau D, Chawner SJRA, Vorstman JAS. Neurodevelopmental trajectories and
psychiatric morbidity: lessons learned from the 22q11.2 deletion syndrome. Curr Psychiatry Rep 2021;23:13. DOI PubMed PMC
16. Gothelf D, Law AJ, Frisch A, et al. Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome. Biol
Psychiatry 2014;75:406-13. DOI PubMed PMC
17. Radoeva PD, Coman IL, Salazar CA, et al. Association between autism spectrum disorder in individuals with velocardiofacial
(22q11.2 deletion) syndrome and PRODH and COMT genotypes. Psychiatr Genet 2014;24:269-72. DOI PubMed PMC
18. Basson MA, van Ravenswaaij-Arts C. Functional insights into chromatin remodelling from studies on CHARGE syndrome. Trends
Genet 2015;31:600-11. DOI PubMed PMC
19. Dijk DR, Bocca G, van Ravenswaaij-Arts CM. Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach. J
Multidiscip Healthc 2019;12:607-20. DOI PubMed PMC
20. Blake KD, Hudson AS. Gastrointestinal and feeding difficulties in CHARGE syndrome: a review from head-to-toe. Am J Med Genet
C Semin Med Genet 2017;175:496-506. DOI PubMed
21. Thomas AT, Waite J, Williams CA, Kirk J, Oliver C, Richards C. Phenotypic characteristics and variability in CHARGE syndrome: a
PRISMA compliant systematic review and meta-analysis. J Neurodev Disord 2022;14:49. DOI PubMed PMC
22. Zhang R, He H, Yuan B, et al. An intronic variant of CHD7 identified in autism patients interferes with neuronal differentiation and
development. Neurosci Bull 2021;37:1091-106. DOI PubMed PMC
23. Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY. Congenital athymia: genetic etiologies, clinical manifestations, diagnosis, and
treatment. J Clin Immunol 2021;41:881-95. DOI PubMed PMC
24. Mai CT, Isenburg JL, Canfield MA, et al; National Birth Defects Prevention Network. National population-based estimates for major
birth defects, 2010-2014. Birth Defects Res 2019;111:1420-35. DOI PubMed PMC
25. Jenner L, Richards C, Howard R, Moss J. Heterogeneity of autism characteristics in genetic syndromes: key considerations for
assessment and support. Curr Dev Disord Rep 2023;10:132-46. DOI PubMed PMC
26. Micangeli G, Menghi M, Profeta G, et al. The impact of oxidative stress on pediatrics syndromes. Antioxidants 2022;11:1983. DOI
PubMed PMC
27. Marcovecchio GE, Ferrua F, Fontana E, et al. Premature senescence and increased oxidative stress in the thymus of down syndrome
patients. Front Immunol 2021;12:669893. DOI PubMed PMC
28. Janoff EN, Tseng HF, Nguyen JL, et al. Incidence and clinical outcomes of pneumonia in persons with down syndrome in the United
States. Vaccine 2023;41:4571-8. DOI
29. Peeters D, Pico-Knijnenburg I, Wieringa D, et al. AKT hyperphosphorylation and T cell exhaustion in down syndrome. Front
Immunol 2022;13:724436. DOI PubMed PMC
30. Edmister S, Ibrahim R, Kakodkar R, Kreiling JA, Creton R. A zebrafish model for calcineurin-dependent brain function. Behav Brain
Res 2022;416:113544. DOI PubMed PMC
31. Li Y, Bögershausen N, Alanay Y, et al. A mutation screen in patients with kabuki syndrome. Hum Genet 2011;130:715-24. DOI
32. Boniel S, Szymańska K, Śmigiel R, Szczałuba K. kabuki syndrome-clinical review with molecular aspects. Genes 2021;12:468. DOI
PubMed PMC
33. Barry KK, Tsaparlis M, Hoffman D, et al. From genotype to phenotype-a review of kabuki syndrome. Genes 2022;13:1761. DOI
PubMed PMC
34. Kurahashi N, Miyake N, Mizuno S, et al. Characteristics of epilepsy in patients with kabuki syndrome with KMT2D mutations. Brain
Dev 2017;39:672-7. DOI
35. Orange JS, Ballow M, Stiehm ER, et al. Use and interpretation of diagnostic vaccination in primary immunodeficiency: a working
group report of the basic and clinical immunology interest section of the American academy of allergy, asthma & immunology. J
Allergy Clin Immunol 2012;130:S1-24. DOI
36. McCusker C, Upton J, Warrington R. Primary immunodeficiency. Allergy Asthma Clin Immunol 2018;14:61. DOI PubMed PMC
37. Paris K, Wall LA. The Treatment of primary immune deficiencies: lessons learned and future opportunities. Clin Rev Allergy
Immunol 2023;65:19-30. DOI PubMed PMC
38. Zengeler KE, Lukens JR. Innate immunity at the crossroads of healthy brain maturation and neurodevelopmental disorders. Nat Rev
Immunol 2021;21:454-68. DOI PubMed PMC
39. International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial
Mediterranean fever. Cell 1997;90:797-807. DOI
40. Ben-Chetrit E, Touitou I. Familial mediterranean fever in the world. Arthritis Rheum 2009;61:1447-53. DOI PubMed
41. Georgin-Lavialle S, Ducharme-Benard S, Sarrabay G, Savey L, Grateau G, Hentgen V. Systemic autoinflammatory diseases: clinical
state of the art. Best Pract Res Clin Rheumatol 2020;34:101529. DOI PubMed
42. Maggio MC, Corsello G. FMF is not always “fever”: from clinical presentation to “treat to target”. Ital J Pediatr 2020;46:7. DOI
PubMed PMC
43. Migita K, Fujita Y, Asano T, Sato S. The expanding spectrum of autoinflammatory diseases. Intern Med 2023;62:43-50. DOI
PubMed PMC
44. Vanzo RJ, Prasad A, Staunch L, et al. The temple grandin genome: comprehensive analysis in a scientist with high-functioning