DiGeorge syndrome

წყაროები

ძირითადი სტატიები

European Society for Immunodeficiencies. Clinical Working Party diagnostic criteria for PID: DiGeorge syndrome diagnostic criteria [internet publication].სრული ტექსტი

Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100344.სრული ტექსტი  აბსტრაქტი

Óskarsdóttir S, Boot E, Crowley TB, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100338.სრული ტექსტი  აბსტრაქტი

Mustillo PJ, Sullivan KE, Chinn IK, et al. Clinical practice guidelines for the immunological management of chromosome 22q11.2 deletion syndrome and other defects in thymic development. J Clin Immunol. 2023 Feb;43(2):247-70.სრული ტექსტი  აბსტრაქტი

გამოყენებული სტატიები

1. McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.სრული ტექსტი  აბსტრაქტი

2. Du Q, de la Morena MT, van Oers NSC. The genetics and epigenetics of 22q11.2 deletion syndrome. Front Genet. 2019;10:1365.სრული ტექსტი  აბსტრაქტი

3. Cirillo A, Lioncino M, Maratea A, et al. Clinical manifestations of 22q11.2 deletion syndrome. Heart Fail Clin. 2022 Jan;18(1):155-64. აბსტრაქტი

4. European Society for Immunodeficiencies. Clinical Working Party diagnostic criteria for PID: DiGeorge syndrome diagnostic criteria [internet publication].სრული ტექსტი

5. Knutsen AP, Baker MW, Markert ML. Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers. J Allergy Clin Immunol. 2011;128:1375-6. აბსტრაქტი

6. Markert ML, Alexieff MJ, Li J, et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol. 2004;113:734-741. აბსტრაქტი

7. Björk AH, Oskarsdóttir S, Andersson BA, et al. Antibody deficiency in adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2012;158A:1934-1940. აბსტრაქტი

8. Patel K, Akhter J, Kobrynski L, et al. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge syndrome. J Pediatr. 2012;161:950-953. აბსტრაქტი

9. Leana-Cox J, Pangkanon S, Eanet KR, et al. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet. 1996;65:309-316. აბსტრაქტი

10. Mok KY, Sheerin U, Simón-Sánchez J, et al. Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurol. 2016;15:585-596.სრული ტექსტი  აბსტრაქტი

11. Blagojevic C, Heung T, Theriault M, et al. Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening. CMAJ Open. 2021 Jul-Sep;9(3):E802-9.სრული ტექსტი  აბსტრაქტი

12. Panamonta V, Wichajarn K, Chaikitpinyo A, et al. Birth prevalence of chromosome 22q11.2 deletion syndrome: a systematic review of population-based studies. J Med Assoc Thai. 2016 Aug;99 Suppl 5:S187-93. აბსტრაქტი

13. Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101-7. აბსტრაქტი

14. Munoz S, Garay F, Flores I, et al. Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome. Rev Med Chil. 2001;129:515-521. აბსტრაქტი

15. Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100344.სრული ტექსტი  აბსტრაქტი

16. Land MH, Garcia-Lloret MI, Borzy MS, et al. Long-term results of bone marrow transplantation in complete DiGeorge syndrome. J Allergy Clin Immunol. 2007;120:908-15. აბსტრაქტი

17. Wilson DI, Cross IE, Goodship JA, et al. A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet. 1992;51:957-63.სრული ტექსტი  აბსტრაქტი

18. Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 2001;27:286-291. აბსტრაქტი

19. Shaikh TH, Kurahashi H, Saitta SC, et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000;9:489-501.სრული ტექსტი  აბსტრაქტი

20. Baumer A, Riegel M, Schinzel A. Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion. J Med Genet. 2004;41:413-20.სრული ტექსტი  აბსტრაქტი

21. Carlson C, Sirotkin H, Pandita R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997;61:620-629.სრული ტექსტი  აბსტრაქტი

22. Edelmann L, Pandita RK, Spiteri E, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999;8:1157-67. აბსტრაქტი

23. Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003;362:1366-73. აბსტრაქტი

24. Daw SCM, Taylor C, Kraman M, et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet. 1996;13:458-60. აბსტრაქტი

25. Sanka M, Tangsinmankong N, Loscalzo M, et al. Complete DiGeorge syndrome associated with CHD7 mutation. J Allergy Clin Immunol. 2007;120:952-4.სრული ტექსტი

26. Vitelli F, Taddei I, Morishima M, et al. A genetic link between Tbx1 and fibroblast growth factor signaling. Development. 2002;129:4605-11.სრული ტექსტი  აბსტრაქტი

27. Lindstrand A, Malmgren H, Verri A, et al. Molecular and clinical characterization of patients with overlapping 10p deletions. Am J Med Genet A. 2010;152A:1233-43. აბსტრაქტი

28. Rope AF, Cragun DL, Saal HM, et al. DiGeorge anomaly in the absence of chromosome 22q11.2 deletion. J Pediatr. 2009;155:560-5. აბსტრაქტი

29. Guo T, McDonald-McGinn D, Blonska A, et al. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat. 2011;32:1278-1289. აბსტრაქტი

30. Piotrowski T, Ahn D, Schilling TF, et al. The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans. Development. 2003;130:5043-5052.სრული ტექსტი  აბსტრაქტი

31. Lindsay EA, Vitelli F, Su H, et al. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001;410:97-101. აბსტრაქტი

32. Taddei I, Morishima M, Huynh T, et al. Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc Natl Acad Sci U S A. 2001;98:11428-31.სრული ტექსტი  აბსტრაქტი

33. Nowotschin S, Liao J, Gage PJ, et al. Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development. 2006;133:1565-1573.სრული ტექსტი  აბსტრაქტი

34. Swaby JA, Silversides CK, Bekeschus SC, et al. Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome. Am J Cardiol. 2011;107:466-71.სრული ტექსტი  აბსტრაქტი

35. Fénelon K, Mukai J, Xu B, et al. Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex. Proc Natl Acad Sci U S A. 2011;108:4447-4452. აბსტრაქტი

36. Stalmans I, Lambrechts D, De Smet F, et al. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med. 2003;9:173-182. აბსტრაქტი

37. Gothelf D, Eliez S, Thompson T, et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci. 2005;8:1500-1502. აბსტრაქტი

38. Glaser B, Debbane M, Hinard C, et al. No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. Am J Psychiatry. 2006;163:537-539.სრული ტექსტი  აბსტრაქტი

39. Tison BE, Nicholas SK, Abramson SL, et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. J Allergy Clin Immunol. 2011;128:1115-1117. აბსტრაქტი

40. Digilio MC, Angioni A, De Santis M, et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet. 2003;63:308-313. აბსტრაქტი

41. Biggs SE, Gilchrist B, May KR. Chromosome 22q11.2 deletion (DiGeorge syndrome): immunologic features, diagnosis, and management. Curr Allergy Asthma Rep. 2023 Apr;23(4):213-22.სრული ტექსტი  აბსტრაქტი

42. Schecklmann M, Schwenck C, Taurines R, et al. A systematic review on olfaction in child and adolescent psychiatric disorders. J Neural Transm. 2013;120:121-30. აბსტრაქტი

43. Solot CB, Sell D, Mayne A, et al. Speech-language disorders in 22q11.2 deletion syndrome: best practices for diagnosis and management. Am J Speech Lang Pathol. 2019 Aug 9;28(3):984-99.სრული ტექსტი  აბსტრაქტი

44. Biswas AB, Furniss F. Cognitive phenotype and psychiatric disorder in 22q11.2 deletion syndrome: a review. Res Dev Disabil. 2016 Jun-Jul;53-54:242-57. აბსტრაქტი

45. Tarquinio DC, Jones MC, Jones KL, et al. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012;158A:2672-81. აბსტრაქტი

46. Habel A, McGinn MJ 2nd, Zackai EH, et al. Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. Am J Med Genet A. 2012;158A:2665-71. აბსტრაქტი

47. Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med. 2001;3:45-8. აბსტრაქტი

48. Unolt M, Versacci P, Anaclerio S, et al. Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: from well-established knowledge to new frontiers. Am J Med Genet A. 2018 Oct;176(10):2087-98.სრული ტექსტი  აბსტრაქტი

49. Bayat M, Bayat A. Neurological manifestation of 22q11.2 deletion syndrome. Neurol Sci. 2022 Mar;43(3):1695-700. აბსტრაქტი

50. Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89:148-51.სრული ტექსტი  აბსტრაქტი

51. Halder A, Jain M, Kalsi AK. SNP microarray in FISH negative clinically suspected 22q11.2 microdeletion syndrome. Scientifica (Cairo). 2016;2016:5826431.სრული ტექსტი  აბსტრაქტი

52. Óskarsdóttir S, Boot E, Crowley TB, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100338.სრული ტექსტი  აბსტრაქტი

53. Corsten-Janssen N, Saitta SC, Hoefsloot LH, et al. More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated. Mol Syndromol. 2013 Jun;4(5):235-45.სრული ტექსტი  აბსტრაქტი

54. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021 [internet publication]. სრული ტექსტი

55. Mustillo PJ, Sullivan KE, Chinn IK, et al. Clinical practice guidelines for the immunological management of chromosome 22q11.2 deletion syndrome and other defects in thymic development. J Clin Immunol. 2023 Feb;43(2):247-70.სრული ტექსტი  აბსტრაქტი

56. Stewart TL, Irons MB, Cowan JM, et al. Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology. 1999;59:20-22. აბსტრაქტი

57. Lay-Son G, Palomares M, Guzman ML, et al. Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome. Int J Pediatr Otorhinolaryngol. 2012;76:1726-1728. აბსტრაქტი

58. Verheij E, Kist AL, Mink van der Molen AB, et al. Otologic and audiologic findings in 22q11.2 deletion syndrome. Eur Arch Otorhinolaryngol. 2017 Feb;274(2):765-71.სრული ტექსტი  აბსტრაქტი

59. Yi JJ, Calkins ME, Tang SX, et al. Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome. J Clin Psychiatry. 2015 Oct;76(10):e1262-70. აბსტრაქტი

60. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34:798-804.სრული ტექსტი  აბსტრაქტი

61. Oskarsdottir S, Persson C, Eriksson BO, et al. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005;164:146-153. აბსტრაქტი

62. Goldberg R, Motzkin B, Marion R, et al. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet. 1993;45:313-319. აბსტრაქტი

63. Zori RT, Boyar FZ, Williams NW, et al. Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. Am J Med Genet. 1998;77:8-11. აბსტრაქტი

64. D'Antonio LL, Scherer NJ, Miller LL, et al. Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS. Cleft Palate Craniofac J. 2001;38:455-467.სრული ტექსტი  აბსტრაქტი

65. Wang PP, Woodin MF, Kreps-Falk R, et al. Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). Dev Med Child Neurol. 2000;42:422-427.სრული ტექსტი  აბსტრაქტი

66. Bassett AS, Chow EW. 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry. 1999;46:882-891. აბსტრაქტი

67. Arinami T, Ohtsuki T, Takase K, et al. Screening for 22q11 deletions in a schizophrenia population. Schizophr Res. 2001;52:167-170. აბსტრაქტი

68. Barrett DJ, Ammann AJ, Wara DW, et al. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol. 1981;6:1-6. აბსტრაქტი

69. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370:1443-52. აბსტრაქტი

70. Piliero LM, Sanford AN, McDonald-McGinn DM, et al. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004;103:1020-5.სრული ტექსტი  აბსტრაქტი

71. Chaoui R, Heling KS, Lopez AS, et al. The thymic-thoracic ratio in fetal heart defects: a simple way to identify fetuses at high risk for microdeletion 22q11. Ultrasound Obstet Gynecol. 2011;37:397-403. აბსტრაქტი

72. Lammer EJ, Chen DT, Hoar RM, et al. Retinoic acid embryopathy. N Engl J Med. 1985 Oct 3;313(14):837-41. აბსტრაქტი

73. Zhang L, Zhong T, Wang Y, et al. TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid. Int J Dev Biol. 2006;50(1):55-61. აბსტრაქტი

74. Vermot J, Niederreither K, Garnier JM, et al. Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1763-8.სრული ტექსტი  აბსტრაქტი

75. Roberts C, Ivins SM, James CT, et al. Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Dev Dyn. 2005 Apr;232(4):928-38.სრული ტექსტი  აბსტრაქტი

76. de Lonlay-Debeney P, Cormier-Daire V, Amiel J, et al. Features of DiGeorge syndrome and CHARGE association in five patients. J Med Genet. 1997 Dec;34(12):986-9.სრული ტექსტი  აბსტრაქტი

77. Markert ML, Devlin BH, Alexieff MJ, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007 May 15;109(10):4539-47.სრული ტექსტი  აბსტრაქტი

78. Janda A, Sedlacek P, Mejstrikova E, et al. Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome. Pediatr Transplant. 2007 Jun;11(4):441-7. აბსტრაქტი

79. Gennery AR, Slatter MA, Rice J, et al. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol. 2008 Jul;153(1):75-80. აბსტრაქტი

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81. Lee KD, Okazaki T, Kato Y, et al. Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. Pediatr Surg Int. 2008 Oct;24(10):1153-6. აბსტრაქტი

82. Martin-Nalda A, Cueto-González AM, Argudo-Ramírez A, et al. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain). Mol Genet Genomic Med. 2019 Dec;7(12):e1016.სრული ტექსტი  აბსტრაქტი

83. Liao HC, Liao CH, Kao SM, et al. Detecting 22q11.2 deletion syndrome in newborns with low T cell receptor excision circles from severe combined immunodeficiency acreening. J Pediatr. 2019 Jan;204:219-24.e1. აბსტრაქტი

84. Barry JC, Crowley TB, Jyonouchi S, et al. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. J Clin Immunol. 2017 Jul;37(5):476-85. აბსტრაქტი

85. Agergaard P, Hebert A, Sørensen KM, et al. Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review. Eur J Med Genet. 2011;54:3-8. აბსტრაქტი

86. Tomita-Mitchell A, Mahnke DK, Larson JM, et al. Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics. 2010;42A:52-60. აბსტრაქტი

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88. Peyvandi S, Lupo PJ, Garbarini J, et al. 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol. 2013;34:1687-1694. აბსტრაქტი

89. Agergaard P, Olesen C, Østergaard JR, et al. The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations: a population-based study. Am J Med Genet A. 2012;158A:498-508. აბსტრაქტი

90. Monteiro FP, Vieira TP, Sgardioli IC, et al. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. 2013;172:927-45. აბსტრაქტი

91. European Society for Immunodeficiencies. Working definitions for clinical diagnosis of PID. November 2019 [internet publication].სრული ტექსტი

92. Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. აბსტრაქტი

93. Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998:32;492-98.სრული ტექსტი  აბსტრაქტი

94. Van Mierop LH, Kutsche LM. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol. 1986;58:133-7. აბსტრაქტი

95. McDonald R, Dodgen A, Goyal S, et al. Impact of 22q11.2 deletion on the postoperative course of children after cardiac surgery. Pediatr Cardiol. 2013;34:341-7. აბსტრაქტი

96. Rayannavar A, Levitt Katz LE, Crowley TB, et al. Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome. Am J Med Genet A. 2018 Oct;176(10):2099-103.სრული ტექსტი  აბსტრაქტი

97. Filip C, Matzen M, Aukner R, et al. Superiorly based pharyngeal flap for treatment of velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome. J Craniofac Surg. 2013;24:501-4. აბსტრაქტი

98. Markert ML, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. 1999;341:1180-9.სრული ტექსტი  აბსტრაქტი

99. Moylett EH, Wasan AN, Noroski LM, et al. Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity. Clin Immunol. 2004;112:106-112. აბსტრაქტი

100. Perez EE, Bokszczanin A, McDonald-McGinn D, et al. Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics. 2003;112:e325.სრული ტექსტი  აბსტრაქტი

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