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Список литературы

1. Детская гематология/ Под ред: А.Г. Румянцева, А.А. Масчана, Е.В. Жуковской. Авторы :Айзенберг В.Л., Балашов Д.Н., Биккулова Д.Ш., и др.// Москва. Издательская группа «ГЭОТАР- Медиа» 2015 г. С. - 656.

2. Bassett AS et al. Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome J Pediatr. 2011 August; 159(2): 332-9.

3. McDonald-McGinn D M, Sullivan K E. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) Medicine (Baltimore) 2011;90(1):1-18.

4. Maggadottir SM, Sullivan KE. The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome). J Allergy Clin Immunol Pract. 2013 Nov-Dec;1(6):589-94.

5. Lindsay EA. Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet. 2001 Nov;2(11):858-68.

6. Oh A K, Workman L A, Wong G B. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome. Cleft Palate Craniofac J. 2007;44(1):62-66.

7. Monteiro F P, Vieira T P, Sgardioli I C. 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. Eur J Pediatr. 2013;172(7):927-945.

8. Zweier C, Sticht H, Aydin-Yaylagul I, Campbell C E, Rauch A. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet. 2007;80(3):510-517.

9. https://esid.org/Education/Diagnostic-Criteria-PID

10. Miller D T, Adam M P, Aradhya S. et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.

11. Davies EG. Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. Front Immunol. 2013 Oct 31;4:322.

12. Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J. International 22q11.2 Deletion Syndrome Consortium. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011 Aug;159(2):332-9.e1.

13. Kobayashi D, Sallaam S, Humes RA. Tetralogy of Fallot with complete DiGeorge syndrome: report of a case and a review of the literature. Congenit Heart Dis. 2013 Jul-Aug;8(4):E119-26.

14. Chinn IK, Markert ML. Induction of tolerance to parental parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly. J Allergy Clin Immunol. 2011 Jun;127(6):1351-5.

15. Saffra N, Reinherz B. Keratoconus in an adult with 22q11.2 deletion syndrome. BMJ Case Rep. 2015 Jan 16;2015. pii: bcr2014203737.

16. Damlaj M, Seguin C. Refractory autoimmune hemolytic anemia in a patient with DiGeorge syndrome treated successfully with plasma exchange: a case report and review of the literature. Int J Hematol. 2014 Nov;100(5):494-7.

17. Baker KD, Skuse DH. Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Br J Psychiatry. 2005;186:115-20.

18. Hacihamdioglu B, Hacihamdioglu D, Delil K. 22q11 deletion syndrome: current perspective. Appl Clin Genet. 2015 May 18;8:123-32.

19. van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM. TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review. J Clin Immunol. 2015 May. 35 (4):416-30.

20. Кузьменко Н.Б., Варламова Т.В., Мерсиянова И.В., Райкина Е.В., Бобрынина В.О., Щербина А.Ю. Молекулярно-генетическая диагностика первичных иммунодефицитных состояний. Вопросы гематологии\онкологии и иммунопатологии в педиатрии. 2016; 15(1):10-16.

21. Francisco A. Bonilla et al; International Consensus Document (ICON): Common Variable Immunodeficiency Disorders.J Allergy Clin Immunol Pract. 2016 ; 4(1): 38-59.

22. Bertini V, Azzara A, Legitimo A, Milone R, Battini R, Consolini R, et al. Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?. Front Genet. 2017. 8:47.

23. Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev. 2008;14(1):35-42.

24. Leopold C, De Barros A, Cellier C, Drouin-Garraud V, Dehesdin D, Marie JP. Laryngeal abnormalities are frequent in the 22q11 deletion syndrome. Int J Pediatr Otorhinolaryngol. 2012;76(1):36-40.

25. Kirschner RE, Baylis AL. Surgical considerations in 22Q11.2 deletion syndrome. Clin Plast Surg. 2014;41(2):271-282.

26. Davies EG, Cheung M, Gilmour K, et al. Thymus transplantation for complete DiGeorge syndrome: European experience. J Allergy Clin Immunol. 2017;140(6):1660-1670.e16.

27. Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, 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.

28. Ciupe SM, Devlin BH, Markert ML, Kepler TB. The dynamics of T-cell receptor repertoire diversity following thymus transplantation for DiGeorge anomaly. PLoS Comput Biol. 2009 Jun. 5(6):e1000396.

29. Markert ML, Devlin BH, Chinn IK, McCarthy EA, Li YJ. Factors affecting success of thymus transplantation for complete DiGeorge anomaly. Am J Transplant. 2008 Aug. 8(8):1729-36.

30. Markert ML, Boeck A, Hale LP, Kloster AL, McLaughlin TM, Batchvarova MN, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. 1999 Oct 14. 341(16):1180-9.

31. Waters V, Peterson KS, LaRussa P. Live viral vaccines in a DiGeorge syndrome patient. Arch Dis Child. 2007 Jun. 92(6):519-20.

32. Azzari C, Gambineri E, Resti M, Moriondo M, Betti L, Saldias LR, et al. Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). Vaccine. 2005 Feb 25. 23(14):1668-71.

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