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Volumn 159, Issue 2, 2011, Pages

Practical guidelines for managing patients with 22q11.2 deletion syndrome

(97)  Bassett, Anne S a,b,c   McDonald McGinn, Donna M d   Devriendt, Koen h   Digilio, Maria Cristina g   Goldenberg, Paula e   Habel, Alex f   Marino, Bruno i   Oskarsdottir, Solveig j   Philip, Nicole k   Sullivan, Kathleen d   Swillen, Ann h   Vorstman, Jacob l   Abadie, Véronique m   Allgrove, Jeremy m   Amati, Francesca m   Baker, Kate m   Baylis, Adriane m   Beaujard, Marie Paule m   Beemer, Frits m   Boers, Maria m   more..


Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; PARATHYROID HORMONE; THYROTROPIN;

EID: 79960444931     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.02.039     Document Type: Article
Times cited : (452)

References (43)
  • 3
    • 0842327784 scopus 로고    scopus 로고
    • Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden
    • DOI 10.1136/adc.2003.026880
    • S. Oskarsdottir, M. Vujic, and A. Fasth Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden Arch Dis Child 89 2004 148 151 (Pubitemid 38168974)
    • (2004) Archives of Disease in Childhood , vol.89 , Issue.2 , pp. 148-151
    • Oskarsdottir, S.1    Vujic, M.2    Fasth, A.3
  • 5
    • 77953299828 scopus 로고    scopus 로고
    • International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies
    • G. Cocchi, S. Gualdi, C. Bower, J. Halliday, B. Jonsson, and A. Myrelid International trends of Down syndrome 1993-2004: births in relation to maternal age and terminations of pregnancies Birth Defects Res A Clin Mol Teratol 88 2010 474 479
    • (2010) Birth Defects Res A Clin Mol Teratol , vol.88 , pp. 474-479
    • Cocchi, G.1    Gualdi, S.2    Bower, C.3    Halliday, J.4    Jonsson, B.5    Myrelid, A.6
  • 9
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 can cause DiGeorge syndrome
    • A. de la Chapelle, R. Herva, M. Koivisto, and P. Aula A deletion in chromosome 22 can cause DiGeorge Syndrome Hum Genet 57 1981 253 256 (Pubitemid 11121071)
    • (1981) Human Genetics , vol.57 , Issue.3 , pp. 253-256
    • De La Chapelle, A.1    Herva, R.2    Koivisto, M.3    Aula, P.4
  • 10
    • 0020026258 scopus 로고
    • The association of the DiGeorge anomalad with partial monosomy of chromosome 22
    • DOI 10.1016/S0022-3476(82)80116-9
    • R.I. Kelley, E.H. Zackai, B.S. Emanuel, M. Kistenmacher, F. Greenberg, and H.H. Punnett The association of the DiGeorge anomalad with partial monosomy of chromosome 22 J Pediatrics 101 1982 197 200 (Pubitemid 12098766)
    • (1982) Journal of Pediatrics , vol.101 , Issue.2 , pp. 197-200
    • Kelly, R.I.1    Zackai, E.H.2    Emanuel, B.S.3
  • 17
    • 33748895740 scopus 로고    scopus 로고
    • Neurocognitive profile in 22q11 deletion syndrome and schizophrenia
    • DOI 10.1016/j.schres.2006.04.007, PII S0920996406001800
    • E.W.C. Chow, M. Watson, D.A. Young, and A.S. Bassett Neurocognitive profile in 22q11 deletion syndrome and schizophrenia Schizophr Res 87 2006 270 278 (Pubitemid 44428110)
    • (2006) Schizophrenia Research , vol.87 , Issue.1-3 , pp. 270-278
    • Chow, E.W.C.1    Watson, M.2    Young, D.A.3    Bassett, A.S.4
  • 18
    • 44149120272 scopus 로고    scopus 로고
    • The neurocognitive phenotype in velo-cardio-facial syndrome: A developmental perspective
    • DOI 10.1002/ddrr.7
    • K.M. Antshel, W. Fremont, and W.R. Kates The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective Dev Disabil Res Rev 14 2008 43 51 (Pubitemid 351716522)
    • (2008) Developmental Disabilities Research Reviews , vol.14 , Issue.1 , pp. 43-51
    • Antshel, K.M.1    Fremont, W.2    Kates, W.R.3
  • 20
    • 71149112408 scopus 로고    scopus 로고
    • Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome
    • T. Green, D. Gothelf, B. Glaser, M. Debbane, A. Frisch, and M. Kotler Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome J Am Acad Child Adolesc Psychiatry 48 2009 1060 1068
    • (2009) J Am Acad Child Adolesc Psychiatry , vol.48 , pp. 1060-1068
    • Green, T.1    Gothelf, D.2    Glaser, B.3    Debbane, M.4    Frisch, A.5    Kotler, M.6
  • 21
    • 77955401776 scopus 로고    scopus 로고
    • Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome
    • W.L.A. Fung, R. McEvilly, J. Fong, C. Silversides, E. Chow, and A.S. Bassett Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome Am J Psychiatry 167 2010 998
    • (2010) Am J Psychiatry , vol.167 , pp. 998
    • Fung, W.L.A.1    McEvilly, R.2    Fong, J.3    Silversides, C.4    Chow, E.5    Bassett, A.S.6
  • 22
    • 42049117507 scopus 로고    scopus 로고
    • Chromosome 22q11.2 Deletion Syndrome: DiGeorge Syndrome/Velocardiofacial Syndrome
    • DOI 10.1016/j.iac.2008.01.003, PII S0889856108000064
    • K.E. Sullivan Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome Immunol Allergy Clin North Am 28 2008 353 366 (Pubitemid 351522411)
    • (2008) Immunology and Allergy Clinics of North America , vol.28 , Issue.2 , pp. 353-366
    • Sullivan, K.E.1
  • 23
    • 17644421861 scopus 로고    scopus 로고
    • Presenting phenotype in 100 children with the 22q11 deletion syndrome
    • DOI 10.1007/s00431-004-1577-8
    • S. Oskarsdottir, C. Persson, B.O. Eriksson, and A. Fasth Presenting phenotype in 100 children with the 22q11 deletion syndrome Eur J Pediatr 164 2005 146 153 (Pubitemid 40558177)
    • (2005) European Journal of Pediatrics , vol.164 , Issue.3 , pp. 146-153
    • Oskarsdottir, S.1    Persson, C.2    Eriksson, B.O.3    Fasth, A.4
  • 25
    • 39749127846 scopus 로고    scopus 로고
    • Recognizing a common genetic syndrome: 22q11.2 deletion syndrome
    • DOI 10.1503/cmaj.071300
    • R. Kapadia, and A.S. Bassett Recognizing a common genetic syndrome: 22q11.2 deletion syndrome Can Med Assoc J 178 2008 391 393 (Pubitemid 351303277)
    • (2008) Canadian Medical Association Journal , vol.178 , Issue.4 , pp. 391-393
    • Kapadia, R.K.1    Bassett, A.S.2
  • 27
    • 44149093809 scopus 로고    scopus 로고
    • Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
    • DOI 10.1002/ddrr.3
    • B.S. Emanuel Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements Dev Disabil Res Rev 14 2008 11 18 (Pubitemid 351716518)
    • (2008) Developmental Disabilities Research Reviews , vol.14 , Issue.1 , pp. 11-18
    • Emanuel, B.S.1
  • 28
    • 57049132697 scopus 로고    scopus 로고
    • Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
    • DOI 10.1093/hmg/ddn307
    • A.S. Bassett, C.R. Marshall, A.C. Lionel, E.W.C. Chow, and S.W. Scherer Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome Hum Mol Genet 17 2008 4045 4053 (Pubitemid 352762863)
    • (2008) Human Molecular Genetics , vol.17 , Issue.24 , pp. 4045-4053
    • Bassett, A.S.1    Marshall, C.R.2    Lionel, A.C.3    Chow, E.W.C.4    Scherer, S.W.5
  • 30
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • D.T. Miller, M.P. Adam, S. Aradhya, L.G. Biesecker, A.R. Brothman, and N.P. Carter Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 2010 749 764
    • (2010) Am J Hum Genet , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3    Biesecker, L.G.4    Brothman, A.R.5    Carter, N.P.6
  • 31
    • 0033358588 scopus 로고    scopus 로고
    • Low-copy repeats mediate the common 3-Mb deletion in patients with velo- cardio-facial syndrome
    • DOI 10.1086/302343
    • L. Edelmann, R.K. Pandita, and B.E. Morrow Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome Am J Hum Genet 64 1999 1076 1086 (Pubitemid 30463039)
    • (1999) American Journal of Human Genetics , vol.64 , Issue.4 , pp. 1076-1086
    • Edelmann, L.1    Pandita, R.K.2    Morrow, B.E.3
  • 33
    • 2942709617 scopus 로고    scopus 로고
    • Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion
    • A. Baumer, M. Riegel, and A. Schinzel Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion J Med Genet 41 2004 413 420 (Pubitemid 38788035)
    • (2004) Journal of Medical Genetics , vol.41 , Issue.6 , pp. 413-420
    • Baumer, A.1    Riegel, M.2    Schinzel, A.3
  • 36
    • 0032871644 scopus 로고    scopus 로고
    • Phenotype of adults with the 22q11 deletion syndrome: A review
    • DOI 10.1002/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2- V
    • E. Cohen, E.W.C. Chow, R. Weksberg, and A.S. Bassett The phenotype of adults with the 22q11 deletion syndrome: a review Am J Med Genet 86 1999 359 365 (Pubitemid 29461498)
    • (1999) American Journal of Medical Genetics , vol.86 , Issue.4 , pp. 359-365
    • Cohen, E.1    Chow, E.W.C.2    Weksberg, R.3    Bassett, A.S.4
  • 37
    • 49649124127 scopus 로고    scopus 로고
    • Schizophrenia and 22q11.2 deletion syndrome
    • A.S. Bassett, and E.W.C. Chow Schizophrenia and 22q11.2 deletion syndrome Curr Psychiatry Rep 10 2008 148 157
    • (2008) Curr Psychiatry Rep , vol.10 , pp. 148-157
    • Bassett, A.S.1    Chow, E.W.C.2
  • 38
    • 67651244951 scopus 로고    scopus 로고
    • Evidence-based medicine and practice guidelines: Application to genetics
    • H.V. Toriello, and P. Goldenberg Evidence-based medicine and practice guidelines: application to genetics Am J Med Genet C 151C 2009 235 240
    • (2009) Am J Med Genet C , vol.151 C , pp. 235-240
    • Toriello, H.V.1    Goldenberg, P.2
  • 40
    • 0032581132 scopus 로고    scopus 로고
    • Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11
    • DOI 10.1002/(SICI)1096-8628(19980630)78:2<103::AID-AJMG1>3.0.CO;2-P
    • E. Hatchwell, F. Long, J. Wilde, J. Crolla, and K. Temple Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11 Am J Med Genet 73 1998 103 106 (Pubitemid 28298464)
    • (1998) American Journal of Medical Genetics , vol.78 , Issue.2 , pp. 103-106
    • Hatchwell, E.1    Long, F.2    Wilde, J.3    Crolla, J.4    Temple, K.5


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