메뉴 건너뛰기




Volumn 65, Issue 9, 2010, Pages 865-869

DiGeorge Syndrome: A not so rare disease

Author keywords

22q11.2 deletion; DiGeorge syndrome; Immunologic deficiency syndromes; Thymus

Indexed keywords


EID: 78249289994     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1807-59322010000900009     Document Type: Article
Times cited : (43)

References (24)
  • 1
    • 35348822545 scopus 로고    scopus 로고
    • Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2.2 deletion syndrome
    • doi: 10.1016/S0140-6736(07)61601-8
    • Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2.2 deletion syndrome. Lancet. 2007; 370:1443-52, doi: 10.1016/S0140-6736(07)61601-8.
    • (2007) Lancet. , vol.370 , pp. 1443-1452
    • Kobrynski, L.J.1    Sullivan, K.E.2
  • 3
  • 4
    • 1642581677 scopus 로고    scopus 로고
    • T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome
    • doi: 10.1182/blood-2003-08-2824
    • Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004; 103:1020-25, doi: 10.1182/blood-2003-08-2824.
    • (2004) Blood. , vol.103 , pp. 1020-1025
    • Piliero, L.M.1    Sanford, A.N.2    McDonald-McGinn, D.M.3    Zackai, E.H.4    Sullivan, K.E.5
  • 5
    • 78249255763 scopus 로고    scopus 로고
    • Isolated congenital heart disease is associated with the 22q11.2 deletion even though it is rare
    • Nov 16. [Epub ahead of print] PubMed PMID: 19923022
    • Jiang L, Hou Z, Duan C, Chen B, Chen Z, Li Y, Huan Y, et al. Isolated congenital heart disease is associated with the 22q11.2 deletion even though it is rare. Int J Cardiol. 2009 Nov 16. [Epub ahead of print] PubMed PMID: 19923022.
    • (2009) Int J Cardiol.
    • Jiang, L.1    Hou, Z.2    Duan, C.3    Chen, B.4    Chen, Z.5    Li, Y.6    Huan, Y.7
  • 6
  • 7
    • 33646062006 scopus 로고    scopus 로고
    • Primary immunodeficiency diseases: An update from the International Union of Immunological Societ ies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005
    • doi: 10.1016/ j.jaci.2005.12.1347
    • Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, et al. Primary immunodeficiency diseases: An update from the International Union of Immunological Societ ies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol. 2006; 117:883-96, doi: 10.1016/ j.jaci.2005.12.1347.
    • (2006) J Allergy Clin Immunol. , vol.117 , pp. 883-896
    • Notarangelo, L.1    Casanova, J.L.2    Conley, M.E.3    Chapel, H.4    Fischer, A.5    Puck, J.6
  • 9
    • 0031132215 scopus 로고    scopus 로고
    • Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician
    • doi: 10.1177/000992289703600502
    • Thomas JA, Graham JM Jr. Chromosome 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1997; 36:253-66, doi: 10.1177/000992289703600502.
    • (1997) Clin Pediatr (Phila). , vol.36 , pp. 253-266
    • Thomas, J.A.1    Graham Jr., J.M.2
  • 10
    • 0031659846 scopus 로고    scopus 로고
    • Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
    • doi: 10. 1007/s004390050786
    • Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet. 1998; 103:70-80, doi: 10. 1007/s004390050786.
    • (1998) Hum Genet. , vol.103 , pp. 70-80
    • Matsuoka, R.1    Kimura, M.2    Scambler, P.J.3    Morrow, B.E.4    Imamura, S.5    Minoshima, S.6
  • 11
    • 33646889085 scopus 로고    scopus 로고
    • PCR screening for 22q11.2.2 microdeletion: Development of a new costeffective diagnostic tool
    • doi: 10.1016/j. cca.2006.01.005
    • Gioli-Pereira L, Pereira AC, Mesquita SM, Lopes AA, Krieger JE. PCR screening for 22q11.2.2 microdeletion: development of a new costeffective diagnostic tool. Clin Chim Acta. 2006; 369:78-81, doi: 10.1016/j. cca.2006.01.005.
    • (2006) Clin Chim Acta. , vol.369 , pp. 78-81
    • Gioli-Pereira, L.1    Pereira, A.C.2    Mesquita, S.M.3    Lopes, A.A.4    Krieger, J.E.5
  • 13
    • 0031671548 scopus 로고    scopus 로고
    • A population study of chromosome 21q11 deletions in infancy
    • doi: 10.1136/adc.79.4.348
    • Goodship J, Cross L, Liling J, Wren C. A population study of chromosome 21q11 deletions in infancy. Arch Dis Child. 1998; 79:348-51, doi: 10.1136/adc.79.4.348.
    • (1998) Arch Dis Child. , vol.79 , pp. 348-351
    • Goodship, J.1    Cross, L.2    Liling, J.3    Wren, C.4
  • 14
    • 44149115417 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome: 30 years of study
    • doi: 10.1002/ddrr.2
    • Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev. 2008; 14:3-10, doi: 10.1002/ddrr.2.
    • (2008) Dev Disabil Res Rev. , vol.14 , pp. 3-10
    • Shprintzen, R.J.1
  • 15
    • 10744223651 scopus 로고    scopus 로고
    • Role of TBX1 in human del 22q11.2 syndrome
    • doi: 10.1016/S0140-6736(03)14632-6
    • Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, et al. Role of TBX1 in human del 22q11.2 syndrome. Lancet. 2003; 362:1366-73, doi: 10.1016/S0140-6736(03)14632-6.
    • (2003) Lancet , vol.362 , pp. 1366-1373
    • Yagi, H.1    Furutani, Y.2    Hamada, H.3    Sasaki, T.4    Asakawa, S.5    Minoshima, S.6
  • 17
    • 67649196114 scopus 로고    scopus 로고
    • A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
    • doi: 10.1186/1471-2350-10-48
    • Fernandez L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, Garcia-Miñaur S, et al. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Medical Genetics. 2009; 10:48, doi: 10.1186/1471-2350-10-48.
    • (2009) BMC Medical Genetics. , vol.10 , pp. 48
    • Fernandez, L.1    Nevado, J.2    Santos, F.3    Heine-Suñer, D.4    Martinez-Glez, V.5    Garcia-Miñaur, S.6
  • 18
    • 0842327784 scopus 로고    scopus 로고
    • Incidence and prevalence for the 22q11.2 deletion syndrome: A population-based study in Western Sweden
    • doi: 10.1136/adc.2003.026880
    • Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence for the 22q11.2 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004; 89:148-51, doi: 10.1136/adc.2003.026880.
    • (2004) Arch Dis Child. , vol.89 , pp. 148-151
    • Oskarsdottir, S.1    Vujic, M.2    Fasth, A.3
  • 19
    • 17444434198 scopus 로고    scopus 로고
    • Frequency of 22q11.2 deletions in patients with conotruncal defects
    • doi: 10.1016/S0735-1097(98)00259-9
    • Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, et al. Frequency of 22q11.2 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998; 32:492-8, doi: 10.1016/S0735-1097(98)00259-9.
    • (1998) J Am Coll Cardiol. , vol.32 , pp. 492-498
    • Goldmuntz, E.1    Clark, B.J.2    Mitchell, L.E.3    Jawad, A.F.4    Cuneo, B.F.5    Reed, L.6
  • 20
    • 9644274030 scopus 로고    scopus 로고
    • The clinical, immunological and molecular spectrum of chromosome 22q11.2.2 deletion syndrome and DiGeorge syndrome
    • doi: 10.1097/00130832-200412000-00006
    • Sullivan KE. The clinical, immunological and molecular spectrum of chromosome 22q11.2.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol. 2004; 4:505-12, doi: 10.1097/00130832-200412000-00006.
    • (2004) Curr Opin Allergy Clin Immunol. , vol.4 , pp. 505-512
    • Sullivan, K.E.1
  • 21
    • 0032749270 scopus 로고    scopus 로고
    • Longitudinal analysis of Lymphocyte function and numbers in the first year of life and chromosome 22q11.2.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    • Sullivan KE, McDonald-McGinn DM, Driscoll D, Emanuel BS, Zackai EH, Jawad AF. Longitudinal analysis of Lymphocyte function and numbers in the first year of life and chromosome 22q11.2.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Labor Diag Immunol. 1999; 6:906-11.
    • (1999) Clin Labor Diag Immunol. , vol.6 , pp. 906-911
    • Sullivan, K.E.1    McDonald-McGinn, D.M.2    Driscoll, D.3    Emanuel, B.S.4    Zackai, E.H.5    Jawad, A.F.6
  • 23
    • 58649117974 scopus 로고    scopus 로고
    • The facial phenotype of the velo-cardio-facial syndrome
    • doi: 10.1016/j.ijporl.2008.10.011
    • Butts SC. The facial phenotype of the velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol. 2008; 73:343-50, doi: 10.1016/j.ijporl.2008.10.011.
    • (2008) Int J Pediatr Otorhinolaryngol. , vol.73 , pp. 343-350
    • Butts, S.C.1
  • 24
    • 34247842799 scopus 로고    scopus 로고
    • Association of the low activity COMT 158 Met allelete with ADHD and OCD in subjects with velocardiofacial syndrome
    • doi: 10.1017/S1461145706006699
    • Gothelf D, Michaelovsky E, Frish A, Burg M, Carmel M, Steinberg T, et al. Association of the low activity COMT 158 Met allelete with ADHD and OCD in subjects with velocardiofacial syndrome. Int Neuropsychopharmaco. 2007; 10:301-8, doi: 10.1017/S1461145706006699.
    • (2007) Int Neuropsychopharmaco. , vol.10 , pp. 301-308
    • Gothelf, D.1    Michaelovsky, E.2    Frish, A.3    Burg, M.4    Carmel, M.5    Steinberg, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.